Objective: Peroxisome proliferator-activated receptor -γ(PPAR-γ) plays a critical role in adipocyte differentiation and the development of type 2 diabetes mellitus (T2DM). Numerous studies across several populations...Objective: Peroxisome proliferator-activated receptor -γ(PPAR-γ) plays a critical role in adipocyte differentiation and the development of type 2 diabetes mellitus (T2DM). Numerous studies across several populations have indicated that Pro12Ala polymorphism of PPAR-γ is associated with decreased insulin resistance and decreased risk of T2DM. The aims of this study are to develop a simple and sensitive detection of Pro12Ala polymorphism and examined the distribution of this polymorphism in Chinese population. Methods: The PPAR-γ gene fragment containing Pro12Ala variant of 101 T2DM patients and 104 controls were amplified by PCR amplification and the extension reaction was performed using primer that adjacent to the single nucleotide polymorphic site in presence of two different dye-labeled terminators. The primer's specially extending reactions make the increase of their fluorescence polarization (FP) that mean special genotype. The variant frequencies of the two groups were compared. Results: We detected the Pro12Ala variant successfully by TDI-FP method and we found no significant association between this polymorphism and T2DM in case-control study. Conclusion: The TDI-FP technology is a new specific and sensitive method that is suitable for automatic detection of large number of clinical samples. Prol2Ala mutation in PPAR--@2 gene does not play a significant role in T2DM risk in Chinese population.展开更多
Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup...Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup of the Yao minority in China.The present study was undertaken association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 649 subjects of Bai Ku Yao and 646 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the PCSK9 E670G polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing. Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C) and apolipoprotein(Apo) AI were lower in Bai Ku Yao than in Han(P【0.01 for all).The frequency of A and G alleles was 98.00%and 2.00%in Bai Ku Yao,and 95.20%and 4.80%in Han(P【0.01);respectively. The frequency of AA,AG and GG genotypes was 95.99%,4.01%and 0%in Bai Ku Yao,and 91.02%, 8.36%and 0.62%in Han(P【0.01);respectively.There were also significant differences in the genotypic and allelic frequencies between n and the ratio of ApoAI to ApoB in Han Chinese but not in Bai Ku Yao were different between the AA and AG/GG genotypes(P【0.05 for all).The G allele carriers had higher serum HDL-C and higher ApoAI to ApoB ratio than the G allele noncarriers.When serum lipid parameters in Han were analyzed according to sex,the G allele carriers had higher serum HDL and ApoAI levels in males (P【0.05),and lower ApoB level and higher ApoAI to ApoB ratio in females(P【0.05 for all).Multiple linear regression analysis showed that serum HDL-C levels were correlated with genotypes in both ethnic groups(P【0.05 each).Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption,cigarette smoking,and blood pressure in both ethnic groups(P【0.05-0.001).Conclusions These results suggest that the PCSK9 E670G polymorphism is mainly associated with some serum lipid parameters in the Han population,both gender show different relations to different serum lipid parameters.The G allele carriers might have higher serum lipid profiles than the G allele noncarriers. ormal LDL-C(≤3.20 mmol/L) and high LDL-C subgroups (】 3.20 mmol/L,P【0.01;respectively) in Bai Ku Yao, and between normal ApoB(≤1.14 g/L) and high ApoB subgroups(】 1.14 g/L,P 【 0.01;respectively) in Han.展开更多
To investigate the mutations in the upstream regulatory region (URR) of human papillomavirus type 16 (HPV-16) from the cervical cancer biopsies in Xinjiang Uygur women and its relationship to the high incidence of cer...To investigate the mutations in the upstream regulatory region (URR) of human papillomavirus type 16 (HPV-16) from the cervical cancer biopsies in Xinjiang Uygur women and its relationship to the high incidence of cervical cancer in the southern Xinjiang, the tissue DNA was extracted from the cervical cancer biopsies, and the URR segment of HPV-16 DNA was amplified, sequenced and analyzed. Thereafter, the polymorphism of URR in HPV-16 was then analyzed. It was demonstrated that the positive rate detected for the presence of URR in HPV-16 was 89.47% (17/19). Compared with the previously published sequence in URR of prototype HPV-16, some mutations were detected in the sequence of URR. The mutations in 17 URR fragments of HPV-16 could be divided into 11 patterns (XJU-1 to XJU-11) at nucleic acid level, in which each of XJU-1 and XJU-4 accounted for 23.53% (4/17), and other patterns of mutation accounted for 5.88% (1/17) . In comparison with the URR of prototype HPV-16, the DNA identity of these patterns was 98.50%-99.68% . In these 17 URR fragments, two point mutations occurred at position 7192 (G to T) and position 7520 (G to A) and they appeared to be constant in Xinjiang area. These two mutations were ubiquitous in the Asia-American type and conferred strong infection activity and carcinogenicity of this virus. In addition, the mutations at position 7729 (A to C), position 7843 (A to G) and position 7792 (C to T) could enhance its transcription activity considerably. It is concluded that some mutations occur in URR gene of HPV-16 in the cervical cancer biopsies taken from Uygur women in Xinjiang area, suggesting that certain relationship exists among the mutations in URR of HPV-16, the phylogeny of HPV-16 and the high incidence of cervical cancer in southern part of Xinjiang area.展开更多
AIM： To investigate the association between collagen type I alpha 1（COL1A1） gene and high myopia.· METHODS： In this Meta-analysis, we examined 5published case-control studies that involved 1942 high myopia ca...AIM： To investigate the association between collagen type I alpha 1（COL1A1） gene and high myopia.· METHODS： In this Meta-analysis, we examined 5published case-control studies that involved 1942 high myopia cases and 2929 healthy controls to assess the association between the COL1A1 rs2075555 polymorphism and high myopia risk. We calculated the pooled odds ratios（ORs） of COL1A1 rs2075555 polymorphism in high myopia cases vs healthy controls to evaluate the strength of the association.·RESULTS： Overall, there was no significant difference both in the genotype and allele distributions of COL1A1rs2075555 polymorphism between high myopia cases and healthy controls： CC vs AA OR =1.10, 95% confidence interval（CI）=0.76-1.58; AC vs AA OR=0.98, 95%CI 0.80-1.20; CC/AC vs AA/OR=1.01, 95%CI 0.84-1.22; CC vs AC/AA OR =1.06, 95% CI =0.93-1.20; C vs A OR =1.06, 95% CI0.91-1.23）. In addition, in the stratified analyses by ethnicity, no significant associations were found in any genetic model both in European and Asia cohorts.·CONCLUSION： Our results indicate that the COL1A1rs2075555 polymorphism may not affect susceptibility to high myopia.展开更多
Encodings in polymorphism with finite product types are considered. These encodings aregiven in terms of I-algebras. They have the property that the ground terms are precisely theclosed normal terms of the encoded typ...Encodings in polymorphism with finite product types are considered. These encodings aregiven in terms of I-algebras. They have the property that the ground terms are precisely theclosed normal terms of the encoded types. The proof of a well-known result is transplantedto the setting and it is shown why weak recursion is admissible. The paper also shows how tocarry out the dual encodingS using the existential quantifier.展开更多
Objective To screen the 5’ regulatory region of the aldose reductase (AR) gene for genetic variabilities causing changes in protein expression and affecting the promoter function. Methods The screenings were carri...Objective To screen the 5’ regulatory region of the aldose reductase (AR) gene for genetic variabilities causing changes in protein expression and affecting the promoter function. Methods The screenings were carried out by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). All SSCP variants were submitted for DNA sequencing and inserted into the plasmid chloromycetin acetyl transferase (CAT) enhancer vector. The constructs were used to transfect Hela cells,and CAT assays were performed to assess promoter activity. Gel mobility shift and footprinting assays were also performed to determine the interaction between the DNA and nuclear proteins. Results Two polymorphisms, C(-106)T and C(-12)G, were identified in the regulatory region in 123 Chinese control subjects and 145 patients with type 2 diabetes mellitus. The frequencies of genotypes WT/WT, WT/C(-12)G and WT/C(-106)T were not significantly different between the subjects and patients. In the patients with and without retinopathy, frequencies of WT/C(-106)T were 31.5% and 17.5% (P【0.05) respectively, and the frequencies of WT/C(-12)G were 10.5% and 2.5% (P】0.05) respectively. The total frequency of WT/C(-12)G and WT/C(-106)T in patients with retinopathy was 41.8%, significantly higher than that (20.0%) in patients without retinopathy (P【0.025). The relative transcription activities of the wild-type, the C(-12)G and the C(-106)T were 15.7%, 31.0% and 32.2%, respectively. The results of DNA-protein interaction assays showed that these variations did not change the binding site of DNA with trans-acting factors. Conclusion The polymorphisms C(-12)G and C(-106)T strongly associated with diabetic retinopathy in the Chinese population have been identified in the regulatory region of the aldose reductase gene.展开更多
Background The association between IGF2BP2 and type 2 diabetes mellitus （T2DM） has been repeatedly confirmed among different ethnic populations. However, in several genome-wide association studies （GWAS） from the ...Background The association between IGF2BP2 and type 2 diabetes mellitus （T2DM） has been repeatedly confirmed among different ethnic populations. However, in several genome-wide association studies （GWAS） from the Chinese Han population, the gene IGF2BP2 has not been replicated. The results of relevant studies for the association between IGF2BP2 and T2DM showed controversy in Chinese Han population. It is necessary to systematically evaluate the contribution of common variants in IGF2BP2 to T2DM in Chinese Han population.展开更多
Objective To explore the relationship between chemokine(CC motif)ligand1(CCL1)gene polymorphisms(rs159291,rs159294 and rs210837)and the susceptibility of type 2 diabetes mellitus with pulmonary tuberculosis(T2DM-PTB)....Objective To explore the relationship between chemokine(CC motif)ligand1(CCL1)gene polymorphisms(rs159291,rs159294 and rs210837)and the susceptibility of type 2 diabetes mellitus with pulmonary tuberculosis(T2DM-PTB).Methods 124 T2DM cases,124T2DM-PTB cases and 130 healthy controls(NC)were collected in this case-control study.The genotypes展开更多
Objective To investigate the correlation between DDAH2 gene-449G/C polymorphism and plasma ADMA levels in patients with type 2 diabetes(T2DM).Methods The polymerase chain reaction-restricted fragment length polymorphi...Objective To investigate the correlation between DDAH2 gene-449G/C polymorphism and plasma ADMA levels in patients with type 2 diabetes(T2DM).Methods The polymerase chain reaction-restricted fragment length polymorphism(PCR-RFLP)was used to detect DDAH2 gene-449G/C polymorphism in 288 T2DM(T2DM group)and 279 normal controls(NC group).展开更多
Objective To explore the influence of a polymorphism of protein tyrosine phosphatase receptor type R(PTPRR)gene rs1513105 on abnormal brain activities in resting-state patients with major depressive disorder(MDD)using...Objective To explore the influence of a polymorphism of protein tyrosine phosphatase receptor type R(PTPRR)gene rs1513105 on abnormal brain activities in resting-state patients with major depressive disorder(MDD)using the gene-imaging technology.Methods 54MDD and 43 gender-,age-,and education-matched con-展开更多
文摘Objective: Peroxisome proliferator-activated receptor -γ(PPAR-γ) plays a critical role in adipocyte differentiation and the development of type 2 diabetes mellitus (T2DM). Numerous studies across several populations have indicated that Pro12Ala polymorphism of PPAR-γ is associated with decreased insulin resistance and decreased risk of T2DM. The aims of this study are to develop a simple and sensitive detection of Pro12Ala polymorphism and examined the distribution of this polymorphism in Chinese population. Methods: The PPAR-γ gene fragment containing Pro12Ala variant of 101 T2DM patients and 104 controls were amplified by PCR amplification and the extension reaction was performed using primer that adjacent to the single nucleotide polymorphic site in presence of two different dye-labeled terminators. The primer's specially extending reactions make the increase of their fluorescence polarization (FP) that mean special genotype. The variant frequencies of the two groups were compared. Results: We detected the Pro12Ala variant successfully by TDI-FP method and we found no significant association between this polymorphism and T2DM in case-control study. Conclusion: The TDI-FP technology is a new specific and sensitive method that is suitable for automatic detection of large number of clinical samples. Prol2Ala mutation in PPAR--@2 gene does not play a significant role in T2DM risk in Chinese population.
文摘Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup of the Yao minority in China.The present study was undertaken association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 649 subjects of Bai Ku Yao and 646 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the PCSK9 E670G polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing. Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C) and apolipoprotein(Apo) AI were lower in Bai Ku Yao than in Han(P【0.01 for all).The frequency of A and G alleles was 98.00%and 2.00%in Bai Ku Yao,and 95.20%and 4.80%in Han(P【0.01);respectively. The frequency of AA,AG and GG genotypes was 95.99%,4.01%and 0%in Bai Ku Yao,and 91.02%, 8.36%and 0.62%in Han(P【0.01);respectively.There were also significant differences in the genotypic and allelic frequencies between n and the ratio of ApoAI to ApoB in Han Chinese but not in Bai Ku Yao were different between the AA and AG/GG genotypes(P【0.05 for all).The G allele carriers had higher serum HDL-C and higher ApoAI to ApoB ratio than the G allele noncarriers.When serum lipid parameters in Han were analyzed according to sex,the G allele carriers had higher serum HDL and ApoAI levels in males (P【0.05),and lower ApoB level and higher ApoAI to ApoB ratio in females(P【0.05 for all).Multiple linear regression analysis showed that serum HDL-C levels were correlated with genotypes in both ethnic groups(P【0.05 each).Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption,cigarette smoking,and blood pressure in both ethnic groups(P【0.05-0.001).Conclusions These results suggest that the PCSK9 E670G polymorphism is mainly associated with some serum lipid parameters in the Han population,both gender show different relations to different serum lipid parameters.The G allele carriers might have higher serum lipid profiles than the G allele noncarriers. ormal LDL-C(≤3.20 mmol/L) and high LDL-C subgroups (】 3.20 mmol/L,P【0.01;respectively) in Bai Ku Yao, and between normal ApoB(≤1.14 g/L) and high ApoB subgroups(】 1.14 g/L,P 【 0.01;respectively) in Han.
基金grants from the National Natural Science Foundation of China （No. 30460008） .
文摘To investigate the mutations in the upstream regulatory region (URR) of human papillomavirus type 16 (HPV-16) from the cervical cancer biopsies in Xinjiang Uygur women and its relationship to the high incidence of cervical cancer in the southern Xinjiang, the tissue DNA was extracted from the cervical cancer biopsies, and the URR segment of HPV-16 DNA was amplified, sequenced and analyzed. Thereafter, the polymorphism of URR in HPV-16 was then analyzed. It was demonstrated that the positive rate detected for the presence of URR in HPV-16 was 89.47% (17/19). Compared with the previously published sequence in URR of prototype HPV-16, some mutations were detected in the sequence of URR. The mutations in 17 URR fragments of HPV-16 could be divided into 11 patterns (XJU-1 to XJU-11) at nucleic acid level, in which each of XJU-1 and XJU-4 accounted for 23.53% (4/17), and other patterns of mutation accounted for 5.88% (1/17) . In comparison with the URR of prototype HPV-16, the DNA identity of these patterns was 98.50%-99.68% . In these 17 URR fragments, two point mutations occurred at position 7192 (G to T) and position 7520 (G to A) and they appeared to be constant in Xinjiang area. These two mutations were ubiquitous in the Asia-American type and conferred strong infection activity and carcinogenicity of this virus. In addition, the mutations at position 7729 (A to C), position 7843 (A to G) and position 7792 (C to T) could enhance its transcription activity considerably. It is concluded that some mutations occur in URR gene of HPV-16 in the cervical cancer biopsies taken from Uygur women in Xinjiang area, suggesting that certain relationship exists among the mutations in URR of HPV-16, the phylogeny of HPV-16 and the high incidence of cervical cancer in southern part of Xinjiang area.
文摘AIM： To investigate the association between collagen type I alpha 1（COL1A1） gene and high myopia.· METHODS： In this Meta-analysis, we examined 5published case-control studies that involved 1942 high myopia cases and 2929 healthy controls to assess the association between the COL1A1 rs2075555 polymorphism and high myopia risk. We calculated the pooled odds ratios（ORs） of COL1A1 rs2075555 polymorphism in high myopia cases vs healthy controls to evaluate the strength of the association.·RESULTS： Overall, there was no significant difference both in the genotype and allele distributions of COL1A1rs2075555 polymorphism between high myopia cases and healthy controls： CC vs AA OR =1.10, 95% confidence interval（CI）=0.76-1.58; AC vs AA OR=0.98, 95%CI 0.80-1.20; CC/AC vs AA/OR=1.01, 95%CI 0.84-1.22; CC vs AC/AA OR =1.06, 95% CI =0.93-1.20; C vs A OR =1.06, 95% CI0.91-1.23）. In addition, in the stratified analyses by ethnicity, no significant associations were found in any genetic model both in European and Asia cohorts.·CONCLUSION： Our results indicate that the COL1A1rs2075555 polymorphism may not affect susceptibility to high myopia.
文摘Encodings in polymorphism with finite product types are considered. These encodings aregiven in terms of I-algebras. They have the property that the ground terms are precisely theclosed normal terms of the encoded types. The proof of a well-known result is transplantedto the setting and it is shown why weak recursion is admissible. The paper also shows how tocarry out the dual encodingS using the existential quantifier.
基金grantsfromtheNationalNaturalScienceFoundationofChina (No 396 70 35 2 )
文摘Objective To screen the 5’ regulatory region of the aldose reductase (AR) gene for genetic variabilities causing changes in protein expression and affecting the promoter function. Methods The screenings were carried out by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). All SSCP variants were submitted for DNA sequencing and inserted into the plasmid chloromycetin acetyl transferase (CAT) enhancer vector. The constructs were used to transfect Hela cells,and CAT assays were performed to assess promoter activity. Gel mobility shift and footprinting assays were also performed to determine the interaction between the DNA and nuclear proteins. Results Two polymorphisms, C(-106)T and C(-12)G, were identified in the regulatory region in 123 Chinese control subjects and 145 patients with type 2 diabetes mellitus. The frequencies of genotypes WT/WT, WT/C(-12)G and WT/C(-106)T were not significantly different between the subjects and patients. In the patients with and without retinopathy, frequencies of WT/C(-106)T were 31.5% and 17.5% (P【0.05) respectively, and the frequencies of WT/C(-12)G were 10.5% and 2.5% (P】0.05) respectively. The total frequency of WT/C(-12)G and WT/C(-106)T in patients with retinopathy was 41.8%, significantly higher than that (20.0%) in patients without retinopathy (P【0.025). The relative transcription activities of the wild-type, the C(-12)G and the C(-106)T were 15.7%, 31.0% and 32.2%, respectively. The results of DNA-protein interaction assays showed that these variations did not change the binding site of DNA with trans-acting factors. Conclusion The polymorphisms C(-12)G and C(-106)T strongly associated with diabetic retinopathy in the Chinese population have been identified in the regulatory region of the aldose reductase gene.
文摘Background The association between IGF2BP2 and type 2 diabetes mellitus （T2DM） has been repeatedly confirmed among different ethnic populations. However, in several genome-wide association studies （GWAS） from the Chinese Han population, the gene IGF2BP2 has not been replicated. The results of relevant studies for the association between IGF2BP2 and T2DM showed controversy in Chinese Han population. It is necessary to systematically evaluate the contribution of common variants in IGF2BP2 to T2DM in Chinese Han population.
文摘Objective To explore the relationship between chemokine(CC motif)ligand1(CCL1)gene polymorphisms(rs159291,rs159294 and rs210837)and the susceptibility of type 2 diabetes mellitus with pulmonary tuberculosis(T2DM-PTB).Methods 124 T2DM cases,124T2DM-PTB cases and 130 healthy controls(NC)were collected in this case-control study.The genotypes
文摘Objective To investigate the correlation between DDAH2 gene-449G/C polymorphism and plasma ADMA levels in patients with type 2 diabetes(T2DM).Methods The polymerase chain reaction-restricted fragment length polymorphism(PCR-RFLP)was used to detect DDAH2 gene-449G/C polymorphism in 288 T2DM(T2DM group)and 279 normal controls(NC group).
文摘Objective To explore the influence of a polymorphism of protein tyrosine phosphatase receptor type R(PTPRR)gene rs1513105 on abnormal brain activities in resting-state patients with major depressive disorder(MDD)using the gene-imaging technology.Methods 54MDD and 43 gender-,age-,and education-matched con-
