AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy(DR) in Chinese population.·METHODS: A case-control study was performed to investigate the genetic association between DR ...AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy(DR) in Chinese population.·METHODS: A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus(T2DM). A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant(rs10946398) of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression(MLR) analysis.· RESULTS: There were significant differences in C allele frequencies of rs10946398(CDKAL1) between control and DR groups(45.06% versus 55.00%, P 〈0.05).The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION: Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.展开更多
Fructans are major nonstructural carbohydrates in wheat (Triticum aestivum L.). Fructan 1-fructosyltransferase (1-FFT) is the key enzyme in fructan biosynthesis. In the present study, 96 sequence variants were det...Fructans are major nonstructural carbohydrates in wheat (Triticum aestivum L.). Fructan 1-fructosyltransferase (1-FFT) is the key enzyme in fructan biosynthesis. In the present study, 96 sequence variants were detected in the 1-FFT-A 1 gene among 26 wheat accessions including UR208, and 15 of them result in amino acid substitutions, forming four haplotypes. Two markers M39 and M2164 were developed based on the InDe121-39 and SNP-2164 polymorphisms to distinguish the three haplotypes in the 1-FFT-AI. 1-FFT-A1 was located on chromosome 4A using marker M2164 and was flanked by markers Xcwm27 and 6-SFT-A 1. By association analysis using a natural wheat population consisted of 154 accessions, the results showed that the two markers were significantly associated with water-soluble carbohydrate (WSC) content in the lower internode stem and total stem at the early and middle grain filling stages, 1 000-grain weight (TGW) at different grain filling stages and peduncle length (PLE). Comparison of the effects of three haplotypes on agronomic traits indicated that TGW, PLE and total number of spikelets per spike (TNSS)were significantly influenced by haplotypes. Haplll showed a significant positive effect on TGW, PLE and TNSS.展开更多
Lipid transfer protein (LTP) is a kind of small molecular protein, which is named for its ability to transfer lipid between cell membranes. It has been proved that the protein is involved in the responding to abioti...Lipid transfer protein (LTP) is a kind of small molecular protein, which is named for its ability to transfer lipid between cell membranes. It has been proved that the protein is involved in the responding to abiotic stresses. In this study, TaLTP-s, a genomic sequence of TaLTP was isolated from A genome of wheat (Triticum aestivum L). Sequencing analysis exhibited that there was no diversity in the coding region of TaLTP-s, but seven single nucleotide polymorphisms (SNPs) and 1 bp insertion/deletion (InOel) were detected in the promoter regions of different wheat accessions. Nucleotide diversity (T1) in the region was 0.00033, and linkage disequilibrium (LD) extended over almost the entire TaLTP-s region in wheat. The dCAPS markers based on sequence variations in the promoter regions (SNP-207 and SNP-1696) were developed, and three haplotypes were identified based on those markers. Association analysis between the haplotypes and agronomic traits of natural population consisted of 262 accessions showed that three haplotypes of TaLTP-s were significantly associated with plant height (PH). Among the three haplotypes, Haplll is considered as the superior haplotype for increasing plant height in the drought stress environments. The G variance at the position of 207 bp could be a superior allele that significantly increased number of spikes per plant (NSP). The functional marker of TaLTP-s provide a tool for marker-assisted selection regarding to plant height and number of spikelet per plant in wheat.展开更多
AIM: To investigate the association between the polymorphism of TBX21 gene and the risk of gastric cancer in a Chinese population. METHODS: The -1993 polymorphism located in TBX21 gene promoter region was identified b...AIM: To investigate the association between the polymorphism of TBX21 gene and the risk of gastric cancer in a Chinese population. METHODS: The -1993 polymorphism located in TBX21 gene promoter region was identified by polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) method. The risk between TBX21 gene genotype and gastric cancer was determined by multivariate logistic regression analysis in 220 gastric cancer patients and 262 cancer-free controls matched by age, sex and ethnicity. RESULTS: Compared with the TBX21 -1993TT genotype, the -1993CC genotype exhibited a significantly elevated risk for gastric cancer [Odds ratio (OR) = 3.42, 95% confidence interval (CI): 1.41-8.31]. The relation-ship between the -1993 polymorphic genotype and the invasive status such as lymph node and distant metastasis was found among the gastric cancer patients (OR = 4.02, 95% CI: 1.87-8.66; OR = 7.02, 95% CI: 3.44-14.34, respectively). CONCLUSION: TBX21 -1993 polymorphism might contribute to the risk of gastric cancer, especially to the distant metastasis.展开更多
Puccinia striiformis f. sp. tritici (Pst) is one of the pathogenic fungi on wheat, caused stripe rust that is a great threat for wheat production all over the world. Intensive efforts have been made to study genetics ...Puccinia striiformis f. sp. tritici (Pst) is one of the pathogenic fungi on wheat, caused stripe rust that is a great threat for wheat production all over the world. Intensive efforts have been made to study genetics of wheat resistance to this disease, but few on avirulence of the pathogen due mainly to the nature of obligate biotrophism and the lack of systems for studying its genetics and molecular manipulations. To overcome these limitations, a natural Pst population comprising 352 isolates representative of a diverse virulence spectrum was genotyped using 97 secreted protein-single nucleotide polymorphism (SP-SNP) markers to identify candidate avirulence genes using association analysis. Among avirulence genes corresponding to 19 resistance genes, significantly associated SP-SNP markers were detected for avirulence genes AvYr1, AvYr2, AvYr6, AvYr7, AvYr8, AvYr44, AvYrExp2, AvYrSP, and AvYrTye. These results indicate that association analysis can be used to identify markers for avirulence genes. This study has laid the foundation for developing more SP-SNPs for mapping avirulence genes using segregating populations that can be generated through sexual reproduction on alternate hosts of the pathogen.展开更多
Fast chlorophyll fluorescence parameters are widely used to characterize the photosynthetic efficiency of plants. In this study, a genome-wide association analysis was used to detect key single-nueleotide polymorphis...Fast chlorophyll fluorescence parameters are widely used to characterize the photosynthetic efficiency of plants. In this study, a genome-wide association analysis was used to detect key single-nueleotide polymorphisms (SNPs) associated with fast chlorophyll fluorescence parameters using more than 560 000 SNPs in a maize panel consisting of 404 inbred lines. In four fidd environments, 41 SNPs were detected to be associated with five fast chlorophyll fluorescence parameters, including ABS/CS0, ET0/CS0, TR0/ABS, ET0/TR0 and Pies. Among these identified SNPs, 8, 6, 18, 4 and 5 were significantly associated with ET0/TR0, ABS/ CS0, TR0/ABS, ET0/CS, and Plcs, respectively. These SNPs will help to discover genes for chlorophyll fluorescence parameters, better understand the genetic basis of photosynthesis, and assist in developing marker-assisted selection breeding programs in maize.展开更多
AIM:To evaluate the association between the tumour necrosis factor alpha-308(TNF-a-308)gene polymorphism and the risk of digestive system cancers.METHODS:All eligible case-control studies published up to December 2012...AIM:To evaluate the association between the tumour necrosis factor alpha-308(TNF-a-308)gene polymorphism and the risk of digestive system cancers.METHODS:All eligible case-control studies published up to December 2012 were identified by searching PubMed,Web of Science,Embase and China National Knowledge Internet without language restrictions.The risk of digestive system cancers associated with the TNF-a-308 polymorphism was estimated for each study using odds ratio(OR)together with its 95%CI,respectively.Cochrane Collaboration RevMan 5.1 was used to perform the analysis.Aχ2-test-based Q statistic test and an I2test were performed to assess the betweenstudy heterogeneity.When the Q test was significant(P<0.05)or I2>50%,the random effects model was used,otherwise the fixed effects model was used.RESULTS:Fifty-eight studies from fifty-five publications with a total of 9986 cancer patients and 15511 healthy controls were included.Overall,a significant association was found between the TNF-a-308 polymorphism and the risk of digestive system cancers[dominant model:OR=1.23,95%CI:1.09-1.39,(G/A)vs(G/G):OR=1.15,95%CI:1.02-1.28,(A/A)vs(G/G):OR=1.44,95%CI:1.19-1.73,recessive model:OR=1.38,95%CI:1.15-1.66].Furthermore,when the analysis was stratified by ethnicity,similar results were observed in both the Asian and Caucasian populations,except for the dominant model and heterozygote comparisons in the Asian population[dominant model:OR=1.24,95%CI:0.99-1.56,(G/A)vs(G/G):OR=1.09,95%CI:0.96-1.24].When the cancer type subgroups were examined,similar results were detected in gastric and hepatocellular carcinomas;however,no significant association was observed among other digestive system cancers.CONCLUSION:The TNF-a-308 gene polymorphism may be significantly associated with the risk of gastric and hepatocellular carcinomas,but not colorectal,pancreatic,or oesophageal cancer,in the Asian population.展开更多
OBJECTIVE: Previous reports have demonstrated that X-ray repair cross-complementing gene 1 (XRCCl) Arg399GIn polymorphism is a possible risk factor for several cancers. Published data on the association of XRCCl Ar...OBJECTIVE: Previous reports have demonstrated that X-ray repair cross-complementing gene 1 (XRCCl) Arg399GIn polymorphism is a possible risk factor for several cancers. Published data on the association of XRCCl Arg399GIn polymorphism with glioma susceptibility have generated conflicting results. This study is designed to precisely estimate the relationship. DATA RETRIEVAL: A computer-based online retrieval of Medline, EMBASE, OVID, Sciencedirect, and Chinese National Knowledge Infrastructure was performed to search papers regarding association of XRCC1 Arg399GIn polymorphisms with glioma published up to April 2012. SELECTION CRITERIA: Two investigators selected data independently. Meta analysis was then performed for the selected studies using STATA 11.0 software after strict selection. Heterogeneity test, sensitivity analysis and publication bias assessments were then conducted. MAIN OUTCOME MEASURES: Association of XRCCl Arg399GIn polymorphism with glioma risk. RESULTS: A total of nine case-controlled studies comprising 2 326 cases and 3 610 controls were selected for final analysis. The overall data failed to indicate a significant association of XRCCl Arg399GIn polymorphism with glioma risk (Gin/Gin vs. Arg/Arg: odds ratio (OR) = 1.11; 95% confidence interval (Cl) = 0.94-1.31; dominant model: OR = 1.06; 95%C/= 0.95-1.18; recessive model: OR = 1.04; 95%C/= 0.81-1.34). However, subgroup analysis regarding ethnicity showed an increased risk among Asians (Gin/Gin vs. Arg/Arg OR = 1.40; 95%C/= 1.10-1.78; recessive model: Caucasians or mixed ethnicities. OR = 1.70; 95%Cl = 1.17-2.46; dominant mode OR = 1.46; 95%C/= 1.04-2.05) but not CONCLUSION: XRCCl Arg399GIn polymorphism might modify the susceptibility to glioma among Asians but not Caucasians. Further large and well-designed studies are needed to confirm this conclusion.展开更多
Myostatin (MSTN) is a member of the transforming growth factor-β gene superfamily that negatively regulates skeletal muscle development and growth. In the present study, partial genomic fragments of Myostatin-1 (M...Myostatin (MSTN) is a member of the transforming growth factor-β gene superfamily that negatively regulates skeletal muscle development and growth. In the present study, partial genomic fragments of Myostatin-1 (MSTN-1) in two commercial hatchery populations of Ancherythroculter nigrocauda, an economically important freshwater fish, were screened for single nucleotide polymorphisms (SNPs) and then genotyped by direct sequencing of PCR products. Five SNPs were identified in intron 1 and exon 2, including a non-synonymous mutation causing an amino acid change (Val to Ile) at position 180. Association analyses based on 300 individuals revealed that the g. 1129T〉C SNP locus was significantly associated with total length (TL), body length (BL), body height (BH) and body weight (BW) in 6- and 18-month-old populations, while the g. 1289G〉A locus was significantly associated with BH and BW in the 6-month-old population. Haplotype analyses revealed that fish with the genotype combinations TC/TC or TC/GA showed better growth performance. Our results suggest that g.l129T〉C and g.1289G〉A have positive effects on growth traits and may be candidate gene markers for marker-assisted selection in A. nigrocauda.展开更多
OBJECTIVE: To quantitatively evaluate the association between tau genetic polymorphism (H1 and H2) and susceptibility to sporadic progressive supranuclear palsy (PSP). DATA SOURCES: Relevant Medical Subject Head...OBJECTIVE: To quantitatively evaluate the association between tau genetic polymorphism (H1 and H2) and susceptibility to sporadic progressive supranuclear palsy (PSP). DATA SOURCES: Relevant Medical Subject Heading terms and text words were used to identify articles from MEDLINE (1966/2010-07), EMBASE (1984/2010-07), and Chinese National Knowledge Infrastructure (1979/2010), as well as references of the retrieved articles. STUDY SELECTION: The selected articles met the following criteria: sporadic PSP case group and healthy control group, as well as genotype frequency (H1/H1 and H1/H2 + H2/H2) in cases and controls. Genotype distribution in the control groups was tested using the Hardy-Weinberg Equilibrium (HWE). Articles irrelevant to HWE were excluded, and a forest plot was performed to combine all selected articles with Review Manager (Version 5.0). MAIN OUTCOME MEASURES: The summary odds ratios arid corresponding 95% confidence intervals (95%CI) for tau polymorphism (H1/H1 and H1/H2 + H2/H2) between sporadic PSP case and healthy control groups were estimated using the fixed effects model to assess whether tau genetic polymorphism is associated with sporadic PSP susceptibility. RESULTS: According to inclusion and exclusion criteria, a total of 16 articles, which included 1 337 sporadic PSP cases and 2 073 controls, were used in the study. Two articles were excluded because of deviation from HWE in the control groups. The combined result, based on all studies, showed a significant difference in genotype distribution between cases and controls: H1H1 vs. H1H2 + H2H2 (odds ratio (OR) = 4.98, 95%C1: 3.97-6.23, P 〈 0.01). Stratifying for geographic distribution of PSP, sporadic PSP cases exhibited a significantly higher frequency of H1H1 genotypes than controls in the United States (OR = 4.07, 95%C/: 3.16-5.25, P 〈 0.01) and Europe (OR = 8.60, 95%C1: 5.05-14.64, P〈 0.01). CONCLUSION: Tau genetic polymorphism is associated with sporadic PSP susceptibility, and geographic distribution might play a role in tau genetic polymorphism and sporadic PSP susceptibility.展开更多
AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent...AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopia patients (-0.75 D <= spherical refraction <= -8.00 D) and 100 sex -matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy -Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.展开更多
Scallop is a popular sea food and an important aquaculture shellfish.Identification of genes and genetic variants relating to scallop growth could benefit high-yielding scallop breeding.Myostatin(MSTN) is a conservati...Scallop is a popular sea food and an important aquaculture shellfish.Identification of genes and genetic variants relating to scallop growth could benefit high-yielding scallop breeding.Myostatin(MSTN) is a conservative regulator of muscle growth,and has become one of the most important target genes for genetic improvement of the production of farmed animals.In this study,four single nucleotide polymorphisms(SNPs) were identified in the 5' flanking region of MSTN gene(Cf MSTN) in Zhikong scallop(Chlamys farreri).The association of these SNPs with scallop growth traits,including shell length,shell height,body weight and striated muscle weight was analyzed.The SNP g-1162G>T was found to associate with shell length,shell height,and striated muscle weight.The TT type scallops showed significantly higher trait values than those of GT type,and the GG type individuals exhibited median values.On the contrary,significantly more Cf MSTN transcripts were detected in the striated muscle of GT type scallops than in those of TT and GG type ones.Our results suggested that Cf MSTN might regulate the scallop muscle growth negatively,and SNP g-1162G>T can be used as a candidate marker for the selective breeding of high-yielding scallop.展开更多
Objective To investigate relationships of polymorphisms in six genes ( GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b) in the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis with idiopathic short st...Objective To investigate relationships of polymorphisms in six genes ( GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b) in the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis with idiopathic short stature (ISS) in the Chinese Han population. Methods A case- control study was carried out on a cohort of 198 ISS patients and 306 healthy controls. A total of 106 tagging single nucleotide polymorphisms (tagSNPs) from the six genes were selected from the HapMap (haplotype map of the human genome ) Han Chinese in the Beijing subset. Results of genotyping conducted by high- throughput lllumina GoldenGateTM Assay were analyzed by statistical software. Results Both individual tagSNPs and haplotypes showed an association with 1SS in the Han Chinese population ( P 〈 O. 05 ). For each single test, both allele and genotype were tested. By allele frequency analysis, six positive SNP sites ( rsNo. 1, rsNo. 2, rsNo. 3, rsNo. 4, rsNo. 5, and rsNo. 6) of 3 genes ( JAK2, 1GF-1R, and GHR) were found having associations with ISS. By genotype frequency analysis, there were significant differences between the patient and control groups in the following SNP sites: 4 sites in JAK2 gene ( rsNo. 1, rsNo. 2, rsNo. 3, and rsNo. 4) and 1 site in GHR gene ( rsNo. 6). The risk which affected ISS was found related to the JAK2 gene in 4 sites ( increase in rsNo. 1 and decrease in rsNo. 2, rsNo. 3, and rsNo. 4 ) and to the GHR gene in 1 site (decrease in rsNo. 6). They were four haplotypes in gene of IGF-1R as "TGC", "CGCT", "TA", and " CA", one haplotype in IGFBP-3 as "TA", and one haplotype in JAK2 as "CTG", which revealed high significance for risks of affecting ISS. At last, multivariate logistic regression analysis of specific site rsNo. 6 of the GHR gene revealed that the serum IGF-1 was related to genotypes AA and AC, with genotype CC as the reference ( P =0. 015). Conclusion Genetic variances in six genes within the GH/IGF-1 axis may be important etiological factors for ISS in the Chinese Han population.展开更多
Telomeres are protein--DNA complex structure at the ends of chromosomes, which are involved in genomic stability (Blackburn, 2010). In most human cells, telomere erosion with each round of cell division eventually l...Telomeres are protein--DNA complex structure at the ends of chromosomes, which are involved in genomic stability (Blackburn, 2010). In most human cells, telomere erosion with each round of cell division eventually limits cell proliferation and tissue renewal, thereby impacting age-dependent pathol- ogies (Lundblad, 2012). Leukocyte telomere length (LTL) undertakes a slow loss throughout life across human pop- ulations in general (Blackburn, 2010). Telomerase is a ribo- nucleoprotein that adds telomeric DNA to chromosomal ends and contains two essential components:展开更多
Schizophrenia (SZ) is an inheritable complex mental disease. There have been several genome-wide association studies (GWASs) of SZ to identify novel genetic susceptibility factors. To further interpret SZ GWASs, pathw...Schizophrenia (SZ) is an inheritable complex mental disease. There have been several genome-wide association studies (GWASs) of SZ to identify novel genetic susceptibility factors. To further interpret SZ GWASs, pathway-based analysis (PBA), which considers the combined effect of variants and identifies pathways associated with traits, provides a feasible solution to discover the biological function and mechanism of SZ. Furthermore, to investigate the common pathways between SZ and bipolar disorder (BD) will help explore common mechanism between psychiatric phenotypes. We performed a PBA, called improved gene set enrichment analysis (i-GSEA), on 3 independent GWASs of SZ to identify pathways associated with SZ. The results were further compared to the BD-associated pathways identified by i-GSEA for 2 BD GWASs and from literature reports. Our analysis identified a highly statistically significant association between SZ and pathway 'substrate specific channel activity' in all 3 SZ GWASs (false discovery rate (FDR) < 0.05). This association has not been reported elsewhere before. This pathway was also identified by PBA for 2 independent BD GWASs. Our results suggest that pathway 'substrate specific channel activity' is statistically significantly associated with SZ, and SZ and BD share the common biological function and mechanism represented by this pathway.展开更多
Schizophrenia is one of the most serious mental diseases found in humans. Previous studies indicated that the single nucleotide polymorphism(SNP) rs1344706 in the gene ZNF804 A encoding zinc finger protein 804 A was...Schizophrenia is one of the most serious mental diseases found in humans. Previous studies indicated that the single nucleotide polymorphism(SNP) rs1344706 in the gene ZNF804 A encoding zinc finger protein 804 A was associated with schizophrenia in Caucasian population but not in Chinese Han population. However, current results are conflicting in Asian population. In the present study, a meta-analysis was performed to revisit the association between rs1344706 and the risk of schizophrenia in Asian, Caucasian and other populations. Electronic search of Pub Med database identified 25 case–control studies with available genotype frequencies of rs1344706 for the meta-analysis,involving a total of 15,788 cases and 22,654 controls. A pooled odds ratio(OR) with 95% confidence interval(CI) was used to assess the association. The current meta-analysis showed an association between rs1344706 and schizophrenia in Caucasian populations(P = 0.028, OR = 1.138, 95% CI:1.014–1.278; P = 0.004 for heterogeneity) and Asian populations(P = 0.008, OR = 1.092, 95%CI: 1.023–1.165; P = 0.001 for heterogeneity), but not in other populations(P = 0.286,OR = 1.209, 95% CI: 0.853–1.714, P = 0.120 for heterogeneity). Egger’s test(P 〉 0.05) and Begg’s test(P 〉 0.05) are both suggestive of the lack of publication bias for the included studies. Thus, the absence of association in other populations suggests a genetic heterogeneity in the susceptibility of schizophrenia and demonstrates the difficulties in replicating genome-wide association study findings regarding schizophrenia across different ethnic populations. To validate the association between rs1344706 and schizophrenia, further studies with larger participant populations worldwide are needed.展开更多
The objective of this study was to investigate the genetic diversity of barley accessions. Additionally, association trait analysis was conducted for grain yield under salinity, heading date and plant height. For this...The objective of this study was to investigate the genetic diversity of barley accessions. Additionally, association trait analysis was conducted for grain yield under salinity, heading date and plant height. For this purpose, 48 barley genotypes were analyzed with 22 microsatellite simple sequence repeat (SSR) markers. Four of the 22 markers (Bmac316, scssr03907, HVM67 and Bmag770) were able to differentiate all barley genotypes. Cluster and principal coordinate analysis allowed a clear grouping between countries from the same region. The genotypes used in this study have been evaluated for agronomic performance in different environments. Conducting association analysis for grain yield under salinity conditions using TASSEL software revealed a close association of the marker Bmag749 (2H, bin 13) in two different environments with common significant alleles (175, 177), whereas the HVHOTR1 marker (2H, bin 3) was only significant in Sakhar Egypt with alleles size being 158 and 161. Heading date also showed an association with scssr03907 through the common significant specific allele 111 and EBmac0415 markers in three different agro climatic locations, whereas HVCMA, scssr00103 and HVM67 were linked to heading date in the Egyptian environment only. The plant height association analysis revealed significant markers Bmag770 via the significant allele 152 and scssr09398.展开更多
基金Supported by National Natural Science Foundation of China(No.81270903)Science and Technology Commission of Shanghai Municipality(No.13140901600)
文摘AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy(DR) in Chinese population.·METHODS: A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus(T2DM). A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant(rs10946398) of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression(MLR) analysis.· RESULTS: There were significant differences in C allele frequencies of rs10946398(CDKAL1) between control and DR groups(45.06% versus 55.00%, P 〈0.05).The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION: Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.
基金supported by the National Natural Science Foundation of China(31461143024)the National Major Project for Developing New Genetically Modified(GM) Crops of China(2016ZX08010005)the Agricultural Science and Technology Innovation Program,China(ASTIP)
文摘Fructans are major nonstructural carbohydrates in wheat (Triticum aestivum L.). Fructan 1-fructosyltransferase (1-FFT) is the key enzyme in fructan biosynthesis. In the present study, 96 sequence variants were detected in the 1-FFT-A 1 gene among 26 wheat accessions including UR208, and 15 of them result in amino acid substitutions, forming four haplotypes. Two markers M39 and M2164 were developed based on the InDe121-39 and SNP-2164 polymorphisms to distinguish the three haplotypes in the 1-FFT-AI. 1-FFT-A1 was located on chromosome 4A using marker M2164 and was flanked by markers Xcwm27 and 6-SFT-A 1. By association analysis using a natural wheat population consisted of 154 accessions, the results showed that the two markers were significantly associated with water-soluble carbohydrate (WSC) content in the lower internode stem and total stem at the early and middle grain filling stages, 1 000-grain weight (TGW) at different grain filling stages and peduncle length (PLE). Comparison of the effects of three haplotypes on agronomic traits indicated that TGW, PLE and total number of spikelets per spike (TNSS)were significantly influenced by haplotypes. Haplll showed a significant positive effect on TGW, PLE and TNSS.
基金supported by the National High-Tech R&D Program of China (2011AA100501)the National Natural Science Foundation of China (31461143024)the Agricultural Science and Technology Innovation Program (ASTIP), Chinese Academy of Agricultural Sciences
文摘Lipid transfer protein (LTP) is a kind of small molecular protein, which is named for its ability to transfer lipid between cell membranes. It has been proved that the protein is involved in the responding to abiotic stresses. In this study, TaLTP-s, a genomic sequence of TaLTP was isolated from A genome of wheat (Triticum aestivum L). Sequencing analysis exhibited that there was no diversity in the coding region of TaLTP-s, but seven single nucleotide polymorphisms (SNPs) and 1 bp insertion/deletion (InOel) were detected in the promoter regions of different wheat accessions. Nucleotide diversity (T1) in the region was 0.00033, and linkage disequilibrium (LD) extended over almost the entire TaLTP-s region in wheat. The dCAPS markers based on sequence variations in the promoter regions (SNP-207 and SNP-1696) were developed, and three haplotypes were identified based on those markers. Association analysis between the haplotypes and agronomic traits of natural population consisted of 262 accessions showed that three haplotypes of TaLTP-s were significantly associated with plant height (PH). Among the three haplotypes, Haplll is considered as the superior haplotype for increasing plant height in the drought stress environments. The G variance at the position of 207 bp could be a superior allele that significantly increased number of spikes per plant (NSP). The functional marker of TaLTP-s provide a tool for marker-assisted selection regarding to plant height and number of spikelet per plant in wheat.
基金Supported by National Natural Science Foundation, No.81000187
文摘AIM: To investigate the association between the polymorphism of TBX21 gene and the risk of gastric cancer in a Chinese population. METHODS: The -1993 polymorphism located in TBX21 gene promoter region was identified by polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) method. The risk between TBX21 gene genotype and gastric cancer was determined by multivariate logistic regression analysis in 220 gastric cancer patients and 262 cancer-free controls matched by age, sex and ethnicity. RESULTS: Compared with the TBX21 -1993TT genotype, the -1993CC genotype exhibited a significantly elevated risk for gastric cancer [Odds ratio (OR) = 3.42, 95% confidence interval (CI): 1.41-8.31]. The relation-ship between the -1993 polymorphic genotype and the invasive status such as lymph node and distant metastasis was found among the gastric cancer patients (OR = 4.02, 95% CI: 1.87-8.66; OR = 7.02, 95% CI: 3.44-14.34, respectively). CONCLUSION: TBX21 -1993 polymorphism might contribute to the risk of gastric cancer, especially to the distant metastasis.
文摘Puccinia striiformis f. sp. tritici (Pst) is one of the pathogenic fungi on wheat, caused stripe rust that is a great threat for wheat production all over the world. Intensive efforts have been made to study genetics of wheat resistance to this disease, but few on avirulence of the pathogen due mainly to the nature of obligate biotrophism and the lack of systems for studying its genetics and molecular manipulations. To overcome these limitations, a natural Pst population comprising 352 isolates representative of a diverse virulence spectrum was genotyped using 97 secreted protein-single nucleotide polymorphism (SP-SNP) markers to identify candidate avirulence genes using association analysis. Among avirulence genes corresponding to 19 resistance genes, significantly associated SP-SNP markers were detected for avirulence genes AvYr1, AvYr2, AvYr6, AvYr7, AvYr8, AvYr44, AvYrExp2, AvYrSP, and AvYrTye. These results indicate that association analysis can be used to identify markers for avirulence genes. This study has laid the foundation for developing more SP-SNPs for mapping avirulence genes using segregating populations that can be generated through sexual reproduction on alternate hosts of the pathogen.
基金Supported by Natural Science Foundation of Jiangsu Province(BK20141272)National Natural Science Foundation of China(31571669,91535106)+2 种基金Prospective Joint Project of Industry-University-Research Institute Corporation of Jiangsu Province(BY2016069-09)Key Agricultural Science and Technology Research and Development Program of Jiangsu Province(BE2014353)the Priority Academic Program Development of Jiangsu Higher Education Institutions(PAPD)
文摘Fast chlorophyll fluorescence parameters are widely used to characterize the photosynthetic efficiency of plants. In this study, a genome-wide association analysis was used to detect key single-nueleotide polymorphisms (SNPs) associated with fast chlorophyll fluorescence parameters using more than 560 000 SNPs in a maize panel consisting of 404 inbred lines. In four fidd environments, 41 SNPs were detected to be associated with five fast chlorophyll fluorescence parameters, including ABS/CS0, ET0/CS0, TR0/ABS, ET0/TR0 and Pies. Among these identified SNPs, 8, 6, 18, 4 and 5 were significantly associated with ET0/TR0, ABS/ CS0, TR0/ABS, ET0/CS, and Plcs, respectively. These SNPs will help to discover genes for chlorophyll fluorescence parameters, better understand the genetic basis of photosynthesis, and assist in developing marker-assisted selection breeding programs in maize.
文摘AIM:To evaluate the association between the tumour necrosis factor alpha-308(TNF-a-308)gene polymorphism and the risk of digestive system cancers.METHODS:All eligible case-control studies published up to December 2012 were identified by searching PubMed,Web of Science,Embase and China National Knowledge Internet without language restrictions.The risk of digestive system cancers associated with the TNF-a-308 polymorphism was estimated for each study using odds ratio(OR)together with its 95%CI,respectively.Cochrane Collaboration RevMan 5.1 was used to perform the analysis.Aχ2-test-based Q statistic test and an I2test were performed to assess the betweenstudy heterogeneity.When the Q test was significant(P<0.05)or I2>50%,the random effects model was used,otherwise the fixed effects model was used.RESULTS:Fifty-eight studies from fifty-five publications with a total of 9986 cancer patients and 15511 healthy controls were included.Overall,a significant association was found between the TNF-a-308 polymorphism and the risk of digestive system cancers[dominant model:OR=1.23,95%CI:1.09-1.39,(G/A)vs(G/G):OR=1.15,95%CI:1.02-1.28,(A/A)vs(G/G):OR=1.44,95%CI:1.19-1.73,recessive model:OR=1.38,95%CI:1.15-1.66].Furthermore,when the analysis was stratified by ethnicity,similar results were observed in both the Asian and Caucasian populations,except for the dominant model and heterozygote comparisons in the Asian population[dominant model:OR=1.24,95%CI:0.99-1.56,(G/A)vs(G/G):OR=1.09,95%CI:0.96-1.24].When the cancer type subgroups were examined,similar results were detected in gastric and hepatocellular carcinomas;however,no significant association was observed among other digestive system cancers.CONCLUSION:The TNF-a-308 gene polymorphism may be significantly associated with the risk of gastric and hepatocellular carcinomas,but not colorectal,pancreatic,or oesophageal cancer,in the Asian population.
文摘OBJECTIVE: Previous reports have demonstrated that X-ray repair cross-complementing gene 1 (XRCCl) Arg399GIn polymorphism is a possible risk factor for several cancers. Published data on the association of XRCCl Arg399GIn polymorphism with glioma susceptibility have generated conflicting results. This study is designed to precisely estimate the relationship. DATA RETRIEVAL: A computer-based online retrieval of Medline, EMBASE, OVID, Sciencedirect, and Chinese National Knowledge Infrastructure was performed to search papers regarding association of XRCC1 Arg399GIn polymorphisms with glioma published up to April 2012. SELECTION CRITERIA: Two investigators selected data independently. Meta analysis was then performed for the selected studies using STATA 11.0 software after strict selection. Heterogeneity test, sensitivity analysis and publication bias assessments were then conducted. MAIN OUTCOME MEASURES: Association of XRCCl Arg399GIn polymorphism with glioma risk. RESULTS: A total of nine case-controlled studies comprising 2 326 cases and 3 610 controls were selected for final analysis. The overall data failed to indicate a significant association of XRCCl Arg399GIn polymorphism with glioma risk (Gin/Gin vs. Arg/Arg: odds ratio (OR) = 1.11; 95% confidence interval (Cl) = 0.94-1.31; dominant model: OR = 1.06; 95%C/= 0.95-1.18; recessive model: OR = 1.04; 95%C/= 0.81-1.34). However, subgroup analysis regarding ethnicity showed an increased risk among Asians (Gin/Gin vs. Arg/Arg OR = 1.40; 95%C/= 1.10-1.78; recessive model: Caucasians or mixed ethnicities. OR = 1.70; 95%Cl = 1.17-2.46; dominant mode OR = 1.46; 95%C/= 1.04-2.05) but not CONCLUSION: XRCCl Arg399GIn polymorphism might modify the susceptibility to glioma among Asians but not Caucasians. Further large and well-designed studies are needed to confirm this conclusion.
基金Supported by the National Science Foundation for Young Scientists of China(No.31402296)the National Science Foundation for Post-Doctoral Scientists of China(No.2014M562077)the Wuhan Chenguang Project for Young Scholars(No.201372304010832)
文摘Myostatin (MSTN) is a member of the transforming growth factor-β gene superfamily that negatively regulates skeletal muscle development and growth. In the present study, partial genomic fragments of Myostatin-1 (MSTN-1) in two commercial hatchery populations of Ancherythroculter nigrocauda, an economically important freshwater fish, were screened for single nucleotide polymorphisms (SNPs) and then genotyped by direct sequencing of PCR products. Five SNPs were identified in intron 1 and exon 2, including a non-synonymous mutation causing an amino acid change (Val to Ile) at position 180. Association analyses based on 300 individuals revealed that the g. 1129T〉C SNP locus was significantly associated with total length (TL), body length (BL), body height (BH) and body weight (BW) in 6- and 18-month-old populations, while the g. 1289G〉A locus was significantly associated with BH and BW in the 6-month-old population. Haplotype analyses revealed that fish with the genotype combinations TC/TC or TC/GA showed better growth performance. Our results suggest that g.l129T〉C and g.1289G〉A have positive effects on growth traits and may be candidate gene markers for marker-assisted selection in A. nigrocauda.
文摘OBJECTIVE: To quantitatively evaluate the association between tau genetic polymorphism (H1 and H2) and susceptibility to sporadic progressive supranuclear palsy (PSP). DATA SOURCES: Relevant Medical Subject Heading terms and text words were used to identify articles from MEDLINE (1966/2010-07), EMBASE (1984/2010-07), and Chinese National Knowledge Infrastructure (1979/2010), as well as references of the retrieved articles. STUDY SELECTION: The selected articles met the following criteria: sporadic PSP case group and healthy control group, as well as genotype frequency (H1/H1 and H1/H2 + H2/H2) in cases and controls. Genotype distribution in the control groups was tested using the Hardy-Weinberg Equilibrium (HWE). Articles irrelevant to HWE were excluded, and a forest plot was performed to combine all selected articles with Review Manager (Version 5.0). MAIN OUTCOME MEASURES: The summary odds ratios arid corresponding 95% confidence intervals (95%CI) for tau polymorphism (H1/H1 and H1/H2 + H2/H2) between sporadic PSP case and healthy control groups were estimated using the fixed effects model to assess whether tau genetic polymorphism is associated with sporadic PSP susceptibility. RESULTS: According to inclusion and exclusion criteria, a total of 16 articles, which included 1 337 sporadic PSP cases and 2 073 controls, were used in the study. Two articles were excluded because of deviation from HWE in the control groups. The combined result, based on all studies, showed a significant difference in genotype distribution between cases and controls: H1H1 vs. H1H2 + H2H2 (odds ratio (OR) = 4.98, 95%C1: 3.97-6.23, P 〈 0.01). Stratifying for geographic distribution of PSP, sporadic PSP cases exhibited a significantly higher frequency of H1H1 genotypes than controls in the United States (OR = 4.07, 95%C/: 3.16-5.25, P 〈 0.01) and Europe (OR = 8.60, 95%C1: 5.05-14.64, P〈 0.01). CONCLUSION: Tau genetic polymorphism is associated with sporadic PSP susceptibility, and geographic distribution might play a role in tau genetic polymorphism and sporadic PSP susceptibility.
基金Supported by National Natural Science Foundation of China (No.81341105)Sichuan Provincial Health Department (No.120442)
文摘AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopia patients (-0.75 D <= spherical refraction <= -8.00 D) and 100 sex -matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy -Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.
基金supported by the National High-Tech R&D Program (863 Program,2012AA10A402)Doctoral Fund of Ministry of Education of China (20120132130 002)the National Key Technology R&D Program of China (2011BAD13B06)
文摘Scallop is a popular sea food and an important aquaculture shellfish.Identification of genes and genetic variants relating to scallop growth could benefit high-yielding scallop breeding.Myostatin(MSTN) is a conservative regulator of muscle growth,and has become one of the most important target genes for genetic improvement of the production of farmed animals.In this study,four single nucleotide polymorphisms(SNPs) were identified in the 5' flanking region of MSTN gene(Cf MSTN) in Zhikong scallop(Chlamys farreri).The association of these SNPs with scallop growth traits,including shell length,shell height,body weight and striated muscle weight was analyzed.The SNP g-1162G>T was found to associate with shell length,shell height,and striated muscle weight.The TT type scallops showed significantly higher trait values than those of GT type,and the GG type individuals exhibited median values.On the contrary,significantly more Cf MSTN transcripts were detected in the striated muscle of GT type scallops than in those of TT and GG type ones.Our results suggested that Cf MSTN might regulate the scallop muscle growth negatively,and SNP g-1162G>T can be used as a candidate marker for the selective breeding of high-yielding scallop.
基金Supported by National Natural Science Foundation of China(30771029)
文摘Objective To investigate relationships of polymorphisms in six genes ( GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b) in the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis with idiopathic short stature (ISS) in the Chinese Han population. Methods A case- control study was carried out on a cohort of 198 ISS patients and 306 healthy controls. A total of 106 tagging single nucleotide polymorphisms (tagSNPs) from the six genes were selected from the HapMap (haplotype map of the human genome ) Han Chinese in the Beijing subset. Results of genotyping conducted by high- throughput lllumina GoldenGateTM Assay were analyzed by statistical software. Results Both individual tagSNPs and haplotypes showed an association with 1SS in the Han Chinese population ( P 〈 O. 05 ). For each single test, both allele and genotype were tested. By allele frequency analysis, six positive SNP sites ( rsNo. 1, rsNo. 2, rsNo. 3, rsNo. 4, rsNo. 5, and rsNo. 6) of 3 genes ( JAK2, 1GF-1R, and GHR) were found having associations with ISS. By genotype frequency analysis, there were significant differences between the patient and control groups in the following SNP sites: 4 sites in JAK2 gene ( rsNo. 1, rsNo. 2, rsNo. 3, and rsNo. 4) and 1 site in GHR gene ( rsNo. 6). The risk which affected ISS was found related to the JAK2 gene in 4 sites ( increase in rsNo. 1 and decrease in rsNo. 2, rsNo. 3, and rsNo. 4 ) and to the GHR gene in 1 site (decrease in rsNo. 6). They were four haplotypes in gene of IGF-1R as "TGC", "CGCT", "TA", and " CA", one haplotype in IGFBP-3 as "TA", and one haplotype in JAK2 as "CTG", which revealed high significance for risks of affecting ISS. At last, multivariate logistic regression analysis of specific site rsNo. 6 of the GHR gene revealed that the serum IGF-1 was related to genotypes AA and AC, with genotype CC as the reference ( P =0. 015). Conclusion Genetic variances in six genes within the GH/IGF-1 axis may be important etiological factors for ISS in the Chinese Han population.
基金supported by the grants from the National Basic Research Program of China(No.2011CB504000)the National Key Technology R&D Program(No.2012BAI01B09)+1 种基金the Wu Jieping Medical Foundation(No.320.67001118)the National Natural Science Foundation of China(No.81121001)
文摘Telomeres are protein--DNA complex structure at the ends of chromosomes, which are involved in genomic stability (Blackburn, 2010). In most human cells, telomere erosion with each round of cell division eventually limits cell proliferation and tissue renewal, thereby impacting age-dependent pathol- ogies (Lundblad, 2012). Leukocyte telomere length (LTL) undertakes a slow loss throughout life across human pop- ulations in general (Blackburn, 2010). Telomerase is a ribo- nucleoprotein that adds telomeric DNA to chromosomal ends and contains two essential components:
基金supported by the Knowledge Innovation Program of the Chinese Academy of Sciences (KSCX2-EW-J-8) Project for Young Scientists Fund, Institute of Psychology, Chinese Academy of Sciences (O9CX115011)
文摘Schizophrenia (SZ) is an inheritable complex mental disease. There have been several genome-wide association studies (GWASs) of SZ to identify novel genetic susceptibility factors. To further interpret SZ GWASs, pathway-based analysis (PBA), which considers the combined effect of variants and identifies pathways associated with traits, provides a feasible solution to discover the biological function and mechanism of SZ. Furthermore, to investigate the common pathways between SZ and bipolar disorder (BD) will help explore common mechanism between psychiatric phenotypes. We performed a PBA, called improved gene set enrichment analysis (i-GSEA), on 3 independent GWASs of SZ to identify pathways associated with SZ. The results were further compared to the BD-associated pathways identified by i-GSEA for 2 BD GWASs and from literature reports. Our analysis identified a highly statistically significant association between SZ and pathway 'substrate specific channel activity' in all 3 SZ GWASs (false discovery rate (FDR) < 0.05). This association has not been reported elsewhere before. This pathway was also identified by PBA for 2 independent BD GWASs. Our results suggest that pathway 'substrate specific channel activity' is statistically significantly associated with SZ, and SZ and BD share the common biological function and mechanism represented by this pathway.
基金financially supported by the Science and Technology Innovation Project of Yunnan Province, China (Grant No. 2011DH011)Educational Commission of Yunnan Province, China (Grant No. 2013J064)
文摘Schizophrenia is one of the most serious mental diseases found in humans. Previous studies indicated that the single nucleotide polymorphism(SNP) rs1344706 in the gene ZNF804 A encoding zinc finger protein 804 A was associated with schizophrenia in Caucasian population but not in Chinese Han population. However, current results are conflicting in Asian population. In the present study, a meta-analysis was performed to revisit the association between rs1344706 and the risk of schizophrenia in Asian, Caucasian and other populations. Electronic search of Pub Med database identified 25 case–control studies with available genotype frequencies of rs1344706 for the meta-analysis,involving a total of 15,788 cases and 22,654 controls. A pooled odds ratio(OR) with 95% confidence interval(CI) was used to assess the association. The current meta-analysis showed an association between rs1344706 and schizophrenia in Caucasian populations(P = 0.028, OR = 1.138, 95% CI:1.014–1.278; P = 0.004 for heterogeneity) and Asian populations(P = 0.008, OR = 1.092, 95%CI: 1.023–1.165; P = 0.001 for heterogeneity), but not in other populations(P = 0.286,OR = 1.209, 95% CI: 0.853–1.714, P = 0.120 for heterogeneity). Egger’s test(P 〉 0.05) and Begg’s test(P 〉 0.05) are both suggestive of the lack of publication bias for the included studies. Thus, the absence of association in other populations suggests a genetic heterogeneity in the susceptibility of schizophrenia and demonstrates the difficulties in replicating genome-wide association study findings regarding schizophrenia across different ethnic populations. To validate the association between rs1344706 and schizophrenia, further studies with larger participant populations worldwide are needed.
基金the Generation Challenge Program Project, and the North Africa Regional Program
文摘The objective of this study was to investigate the genetic diversity of barley accessions. Additionally, association trait analysis was conducted for grain yield under salinity, heading date and plant height. For this purpose, 48 barley genotypes were analyzed with 22 microsatellite simple sequence repeat (SSR) markers. Four of the 22 markers (Bmac316, scssr03907, HVM67 and Bmag770) were able to differentiate all barley genotypes. Cluster and principal coordinate analysis allowed a clear grouping between countries from the same region. The genotypes used in this study have been evaluated for agronomic performance in different environments. Conducting association analysis for grain yield under salinity conditions using TASSEL software revealed a close association of the marker Bmag749 (2H, bin 13) in two different environments with common significant alleles (175, 177), whereas the HVHOTR1 marker (2H, bin 3) was only significant in Sakhar Egypt with alleles size being 158 and 161. Heading date also showed an association with scssr03907 through the common significant specific allele 111 and EBmac0415 markers in three different agro climatic locations, whereas HVCMA, scssr00103 and HVM67 were linked to heading date in the Egyptian environment only. The plant height association analysis revealed significant markers Bmag770 via the significant allele 152 and scssr09398.