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FTO Polymorphisms Are Associated with Obesity But Not with Diabetes in East Asian Populations:A Meta-analysis 被引量:3
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作者 Bo XI JIE MI 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2009年第6期449-457,共9页
Objective To clarify the contradictory findings in patients with obesity and type 2 diabetes by meta-analysis. Methods PubMed and Embase were searched for articles published up to March 2009. All studies on the associ... Objective To clarify the contradictory findings in patients with obesity and type 2 diabetes by meta-analysis. Methods PubMed and Embase were searched for articles published up to March 2009. All studies on the association of FTO polymorphisms with obesity and type 2 diabetes were included. Pooled odds ratio was calculated using the model of fixed or random effects. Sensitivity analysis was performed to evaluate the stability of meta-analytic results. Results Meta-analysis suggested that rs9939609 A allele was more significantly associated with obesity risk than T allele (3 studies / 2 004 cases and 4 544 control subjects): random effect odds ratio (OR)-1.28, 95%CI=1.05 and 1.55, P heterogeneity =0.05, I^2=66.6%. Similar results were observed in rs8050136 polymorphism (3 studies/2 404 cases and 5 713 control subjects): fixed effect OR =1.25, 95%CI-1.13, 1.37, Pheterogeneity =0.12, 12=51.9%. However, no significant association was found between genetics and risk of type 2 diabetes after control of potential confounders (at least for BMI) either for rs9939609 (fixed effect OR=1.05, 95% CI 0.97,1.13) or for rs8050136 polymorphism (fixed effect OR -1.07, 95%CI: 0.99, 1.16). Furthermore, the sensitivity analysis strengthened our confidence in validity of the association. Conclusion FTO polymorphisms are associated with obesity but not with type 2 diabetes in East Asian populations. Further large-scale studies are required to conclusively establish the association. 展开更多
关键词 fto: polymorphism OBESITY Type 2 diabetes META-ANALYSIS
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KCNQ1 rs2237895 gene polymorphism increases susceptibility to type 2 diabetes mellitus in Asian populations 被引量:1
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作者 Dong-Xu Li Li-Ping Yin +4 位作者 Yu-Qi Song Nan-Nan Shao Huan Zhu Chen-Sen He Jiang-Jie Sun 《World Journal of Diabetes》 SCIE 2024年第3期552-564,共13页
BACKGROUND The association of single nucleotide polymorphism of KCNQ1 gene rs2237895 with type 2 diabetes mellitus(T2DM)is currently controversial.It is unknown whether this association can be gene realized across dif... BACKGROUND The association of single nucleotide polymorphism of KCNQ1 gene rs2237895 with type 2 diabetes mellitus(T2DM)is currently controversial.It is unknown whether this association can be gene realized across different populations.AIM To determine the association of KCNQ1 rs2237895 with T2DM and provide reliable evidence for genetic susceptibility to T2DM.METHODS We searched PubMed,Embase,Web of Science,Cochrane Library,Medline,Baidu Academic,China National Knowledge Infrastructure,China Biomedical Literature Database,and Wanfang to investigate the association between KCNQ1 gene rs2237895 and the risk of T2DM up to January 12,2022.Review Manager 5.4 was used to analyze the association of the KCNQ1 gene rs2237895 polymorphism with T2DM and to evaluate the publication bias of the selected literature.RESULTS Twelve case–control studies(including 11273 cases and 11654 controls)met our inclusion criteria.In the full population,allelic model[odds ratio(OR):1.19;95%confidence interval(95%CI):1.09–1.29;P<0.0001],recessive model(OR:1.20;95%CI:1.11–1.29;P<0.0001),dominant model(OR:1.27.95%CI:1.14–1.42;P<0.0001),and codominant model(OR:1.36;95%CI:1.15–1.60;P=0.0003)(OR:1.22;95%CI:1.10–1.36;P=0.0002)indicated that the KCNQ1 gene rs2237895 polymorphism was significantly correlated with susceptibility to T2DM.In stratified analysis,this association was confirmed in Asian populations:allelic model(OR:1.25;95%CI:1.13–1.37;P<0.0001),recessive model(OR:1.29;95%CI:1.11–1.49;P=0.0007),dominant model(OR:1.35;95%CI:1.20–1.52;P<0.0001),codominant model(OR:1.49;95%CI:1.22–1.81;P<0.0001)(OR:1.26;95%CI:1.16–1.36;P<0.0001).In non-Asian populations,this association was not significant:Allelic model(OR:1.06,95%CI:0.98–1.14;P=0.12),recessive model(OR:1.04;95%CI:0.75–1.42;P=0.83),dominant model(OR:1.06;95%CI:0.98–1.15;P=0.15),codominant model(OR:1.08;95%CI:0.82–1.42;P=0.60.OR:1.15;95%CI:0.95–1.39;P=0.14).CONCLUSION KCNQ1 gene rs2237895 was significantly associated with susceptibility to T2DM in an Asian population.Carriers of the C allele had a higher risk of T2DM.This association was not significant in non-Asian populations. 展开更多
关键词 Type 2 diabetes mellitus KCNQ1 rs2237895 Single nucleotide polymorphism Asian populations
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Assessing effect of interaction between the FTO A/T polymorphism(rs9939609)and physical activity on obesity-related traits 被引量:1
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作者 Agata Leonska-Duniec Zbigniew Jastrzebski +3 位作者 Aleksandra Zarebska Agnieszka Maciejewska Krzysztof Ficek Pawel Cieszczyk 《Journal of Sport and Health Science》 SCIE 2018年第4期459-464,共6页
Background: The first described obesity-susceptibility gene was the fat mass and obesity-associated (FTO) gene. However, knowledge about FTO's potential modifying effect on changes in body weight achieved through ... Background: The first described obesity-susceptibility gene was the fat mass and obesity-associated (FTO) gene. However, knowledge about FTO's potential modifying effect on changes in body weight achieved through a training program is still limited. We decided to study the association between the FTO A/T polymorphism (rs9939609) and obesity-related traits. Additionally, we investigated whether body mass and body composition, as well as metabolic variables observed in physically active participants, are modulated by the FTO polymorphism. Methods: A group of 201 young Polish women were recruited for the study. The genotype distribution was examined in participants measured for selected changes before and after the completion of a 12-week training program. Results: Our results confirm the association between the common FTO A/T polymorphism and increased body mass index (BMI). Subjects with AA and AT genotypes had higher BMI during the entire study period compared with the TT genotype. Although parameters such as BMI, basal metabolism rate, tissue independence, fat mass percentage, fat mass, fat-free mass, total body water, high-density lipoprotein, and glucose changed significantly during the training program, none of the examined parameters changed significantly across the FTO genotypes (genotype × training interaction). Conclusion: We confirm an association between the FTO A/T polymorphism and increased BMI; this polymorphism is therefore a candidate for influencing obesity and other disease-related phenotypes. Although the gene x physical activity interaction was not shown, we want to point out that promoting physical activity is an important approach to controlling the increasing obesity epidemic.2018 Published by Elsevier B.V. on behalf of Shanghai University of Sport. This is an open access article under the CC BY-NC-ND license. (http://creativecommons.org/licenses/by-nc-nd/4.0/). 展开更多
关键词 Exercise fto gene Gene x physical activity interaction Obesity-related traits Polish women Sport genetics
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Influences of polymorphism of packed particles on bulk characterizations in fluidization realm
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作者 Quanhong Zhu Yalong Cao +4 位作者 Qiang Zhang Wankun Liu Hao Guan Donghui Liu Hengjun Gai 《Chinese Journal of Chemical Engineering》 SCIE EI CAS CSCD 2024年第10期238-248,共11页
The characterization of a particle ensemble(rather than a single particle) is of paramount significance to various particle technologies and has long been a fundamental subject in the fluidization realm. However, many... The characterization of a particle ensemble(rather than a single particle) is of paramount significance to various particle technologies and has long been a fundamental subject in the fluidization realm. However, many of such bulk characterizations as loosely-packed density(ρbl), minimum fluidization velocity(Umf), sphericity(φ), discharge rate through orifice(q), angle of repose(β), and segregation index(S),were found to be poorly reproducible, making the reported results seldom comparable. Since these bulk characterizations started from the packed state of particles, such poor reproducibility was ascribed to the polymorphism of packed particles in this work. We observed that in the fluidized bed, the settled/packed state of particles varied monotonously with the settling rate(a) from complete fluidization to zero. This phenomenon confirmed the polymorphic characteristic of packed particles and further enabled us to systematically disclose/clarify its influences on the aforementioned bulk characterizations. Such influences could be comprehensively and intuitively reflected by the impacts induced by a. With the decrease of a, ρbl, φ and q first increased, then decreased, and finally leveled off while Umfand β showed an opposite trend. On the other hand, S first increased and then remained invariant. As per these findings and definitions of these bulk characterizations, benchmarks were indicated to unify the selection of settled state among future scholars and further make their outcomes become fairly comparable. Additionally, most packed states of the particle ensemble were proved to be metastable with their formation and behavior being identical to those of the amorphous state. 展开更多
关键词 FLUIDIZATION FLUIDIZED-BED Particle polymorphism Bulk characterization Comparability
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Relationship between the rs2241766 ADIPOQ Polymorphism in a Black African Population and the Occurrence of Type 2 Diabetes
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作者 Aude Syntia Mbang Bengone Rosalie Nikiema-Ndong +6 位作者 Elisabeth Lendoye Alvine Sibylle Batou Edwige Nnegue Edzo Serge Bekale Daniela Nsame Frédéric Da Dari Félix Ovono Abessolo 《American Journal of Molecular Biology》 CAS 2024年第2期97-106,共10页
Background: Type 2 diabetes mellitus (T2DM) is a metabolic disease, characterized by chronic hyperglycemia. This pathology is linked to various genes whose interaction with the environment promotes its development. Th... Background: Type 2 diabetes mellitus (T2DM) is a metabolic disease, characterized by chronic hyperglycemia. This pathology is linked to various genes whose interaction with the environment promotes its development. The aim of this work was to determine the relationship between the rs2241766 (T/G) polymorphism of the ADIPOQ gene with type 2 diabetes in the black population. Material and Methods: This work was a case-control study, involving type 2 diabetics subjects (n = 94) and controls (n = 82). The study took place from September 2022 to September 2023. Patients were recruited in the Endocrinology Department of the Libreville University Hospital Center. Analysis was performed in the Biochemistry laboratory of the University of Health Sciences in Libreville and at the Research Institute of Health Sciences of Bobodioulasso. Genomic DNA was extracted using the protocol Qiagen kit and the PCR-RFLP method was used to determine the rs2241766 (T/G) polymorphism of the ADIPOQ gene. Results: Only 2 genotypes were found in this population, the TT genotype and the GT genotype. The proportions were not different between the two groups (p = 0.1095) neither the distribution of G and T alleles (p = 0.1095). On the other hand, the HDL hypocholesterolemia was frequent in subjects with the GT genotype compared to TT heterozygous (51.1% vs 48.9%, p = 0.0280;OR = 0.55 [0.30 - 1.01]). Conclusion: There was no association between the rs2241766 (T/G) variant of the ADIPOQ gene and the occurrence of type 2 diabetes in this population. On the other hand, a relationship between HDL hypocholesterolemia and the GT genotype has been established. 展开更多
关键词 Type 2 Diabetes Mellitus polymorphism rs2241766 ADIPOQ PCR-RFLP
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Single nucleotide polymorphism within chromosome 8q24 is associated with prostate cancer development in Saudi Arabia
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作者 Awad Elsid Osman Sahar Alharbi +1 位作者 Atif Ali Ahmed Asim Ali Elbagir 《Asian Journal of Urology》 CSCD 2024年第1期26-32,共7页
Objective: Genome-wide association studies have demonstrated that single nucleotide polymorphisms (SNPs) are important risk factors for the development of prostate cancer (PCa). Preliminary studies have suggested that... Objective: Genome-wide association studies have demonstrated that single nucleotide polymorphisms (SNPs) are important risk factors for the development of prostate cancer (PCa). Preliminary studies have suggested that the incidence of PCa in Saudi males is low but is probably familial or genetically related.Methods: To identify any possible association of SNP with PCa development in Saudi patients, we investigated a group of SNPs in Saudi PCa patients (n=85) and compared the outcomes to healthy normal controls (n=115) and nodular hyperplasia patients (n=120). DNA was extracted from paraffin-embedded formalin fixed tissue or whole blood from both patients’ groups and healthy control group. A total of thirteen SNPs were genotyped using TaqMan® minor groove binder polymerase chain reaction assay.Results: The rs16901979A, s629242T and rs1447295A alleles were found at significantly higher frequency in PCa patients than controls (p< 0.05). The rs16901979 CA genotype was found at significantly greater frequency in PCa patients than in healthy controls (43% vs. 14%, odds ratio=4.6, p=0.0001) and benign hyperplasia group (43% vs. 25%, odds ratio=2.2, p=0.009).Conclusion: Our study has highlighted the association of rs16901979 SNP with PCa in Saudi males. Such findings have important implications in the PCa diagnosis and in screening unaffected family members of Saudi patients. 展开更多
关键词 Prostatecancer SAUDI Singlenucleotide polymorphism ALLELE
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Nucleotide excision repair gene polymorphisms and hepatoblastoma susceptibility in Eastern Chinese children:A five-center case-control study
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作者 Huimin Yin Xianqiang Wang +6 位作者 Shouhua Zhang Shaohua He Wenli Zhang Hongting Lu Yizhen Wang Jing He Chunlei Zhou 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2024年第3期298-305,共8页
Objective:Nucleotide excision repair(NER)plays a vital role in maintaining genome stability,and the effect of NER gene polymorphisms on hepatoblastoma susceptibility is still under investigation.This study aimed to ev... Objective:Nucleotide excision repair(NER)plays a vital role in maintaining genome stability,and the effect of NER gene polymorphisms on hepatoblastoma susceptibility is still under investigation.This study aimed to evaluate the relationship between NER gene polymorphisms and the risk of hepatoblastoma in Eastern Chinese Han children.Methods:In this five-center case-control study,we enrolled 966 subjects from East China(193 hepatoblastoma patients and 773 healthy controls).The TaqMan method was used to genotype 19 single nucleotide polymorphisms(SNPs)in NER pathway genes,including ERCC1,XPA,XPC,XPD,XPF,and XPG.Then,multivariate logistic regression analysis was performed,and odds ratios(ORs)and 95%confidence intervals(95%CIs)were utilized to assess the strength of associations.Results:Three SNPs were related to hepatoblastoma risk.XPC rs2229090 and XPD rs3810366 significantly contributed to hepatoblastoma risk according to the dominant model(adjusted OR=1.49,95%CI=1.07−2.08,P=0.019;adjusted OR=1.66,95%CI=1.12−2.45,P=0.012,respectively).However,XPD rs238406 conferred a significantly decreased risk of hepatoblastoma under the dominant model(adjusted OR=0.68,95%CI=0.49−0.95;P=0.024).Stratified analysis demonstrated that these significant associations were more prominent in certain subgroups.Moreover,there was evidence of functional implications of these significant SNPs suggested by online expression quantitative trait loci(eQTLs)and splicing quantitative trait loci(sQTLs)analysis.Conclusions:In summary,NER pathway gene polymorphisms(XPC rs2229090,XPD rs3810366,and XPD rs238406)are significantly associated with hepatoblastoma risk,and further research is required to verify these findings. 展开更多
关键词 Nucleotide excision repair polymorphismS HEPATOBLASTOMA SUSCEPTIBILITY
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Toll-like receptors 2 polymorphism is associated with psoriasis: A case-control study in the northern Chinese population
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作者 Siyu Hao Yu Zhang +4 位作者 Anqi Yin Ying Lyu Nannan Tong Jiangtian Tian Yuzhen Li 《Frigid Zone Medicine》 2024年第2期96-101,共6页
Background:Psoriasis is a disease caused by genetics and immune system dysfunction,affecting the skin and joints.Toll-like receptors(TLRs)play an important role in triggering the innate immune response and controlling... Background:Psoriasis is a disease caused by genetics and immune system dysfunction,affecting the skin and joints.Toll-like receptors(TLRs)play an important role in triggering the innate immune response and controlling adaptive immunity.The role of TLR2 in the progression of psoriasis is not well understood.Methods:A case-control study was conducted on a northern Chinese Han population,consisting of psoriasis patients and healthy control subjects.Genotyping was performed using the tetra-primer amplification refractory mutation system-polymerase chain reaction(ARMS-PCR),and allele and genotype frequencies of four SNPs in TLR2 were analyzed in 270 psoriasis patients and 246 healthy controls.Results:Four TLR2 SNPs(rs11938228,rs4696480,rs3804099,rs5743699)were genotyped and found to be in linkage disequilibrium.The genotype distributions of rs11938228 and rs4696480 in two groups were in Hardy-Weinberg equilibrium and statistically significant except for the overdominance model.The haplotypes ATTC and ATCC were found to be protective against psoriasis.Conclusion:Our study found a correlation between TLR2 genetic variations and the likelihood of psoriasis in northern China. 展开更多
关键词 Toll-like receptors 2 PSORIASIS polymorphism SUSCEPTIBILITY
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Evaluation of angiotensin converting enzyme insertion/deletion, alpha adducin (ADD1) G460W, and IL-10 gene polymorphisms, and determination of prognostic effects in idiopathic sudden sensorineural hearing loss
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作者 Vural Akın Mehmet Emre Sivrice +4 位作者 Kuyas¸Hekimler Oztürk¨ Hasan Yasan Mustafa Tüz Erdogan˘Okur YusufÇagdas˘¸Kumbul 《Journal of Otology》 CAS CSCD 2024年第2期97-105,共9页
Objective:The aim of this study was to examine angiotensin converting enzyme(ACE)insertion/deletion,alpha adducin,and interleukin-10(IL-10)gene polymorphisms(GPs)in terms of both idiopathic sudden sensorineural hearin... Objective:The aim of this study was to examine angiotensin converting enzyme(ACE)insertion/deletion,alpha adducin,and interleukin-10(IL-10)gene polymorphisms(GPs)in terms of both idiopathic sudden sensorineural hearing loss(ISSNHL)risk and their potential prognostic effects.Methods:The study group consisted of 70 patients and the control group consisted of 50 patients.Venous blood samples were analyzed for relevant GPs via kompetitive allele-specific polymerase chain reaction.Age,sex,affected side,tinnitus,and vertiginous symptom status,number of days between symptom onset and hospital admission,pure tone audiometry results at admission and after treatment were included in the study.Data were compared statistically.Results:The D allele of ACE insertion/deletion GP was significantly more frequent in patients with ISSNHL than in the control group(p=0.032).II genotype was associated with a reduced risk of ISSNHL(p=0.036).The amount of hearing loss was significantly higher in patients with the TT genotype(p=0.027)and T allele of the IL-10 GP(p=0.035)than in the patients without this allele.Severe hearing loss was a poor prognostic factor(p=0.008).Conclusions:The D allele of ACE insertion/deletion GP may be involved in the ISSNHL etiology.Due to the association of this allele with occlusive vascular pathologies,ischemia is believed to be a common pathway in the etiopathogenesis of ISSNHL. 展开更多
关键词 Alpha adducin Idiopathic sudden sensorineural hearing loss Angiotensin converting enzyme Gene polymorphism INTERLEUKIN-10
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Distribution of gene polymorphisms associated with aspirin antiplatelet in the Han NSTEMI population
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作者 LI Liu-shui WANG Fei +2 位作者 ZHOU Ao YANG Qing LIU Xian-jun 《Journal of Hainan Medical University》 CAS 2024年第2期20-25,共6页
Objective:To analyze the genotype and allele distribution characteristics of GPⅢa PLA2(rs5918),PEAR1(rs12041331),and PTGS1(rs10306114)genes related to the antiplatelet pharmacological effects of aspirin,providing ref... Objective:To analyze the genotype and allele distribution characteristics of GPⅢa PLA2(rs5918),PEAR1(rs12041331),and PTGS1(rs10306114)genes related to the antiplatelet pharmacological effects of aspirin,providing reference for individualized treatment of Chinese Han NSTEMI patients.Methods:A total of 107 Han patients with NSTEMI in Beijing Luhe Hospital affiliated to Capital Medical University from January 2016 to December 2022 were selected as the research subjects.The genotypes of GPⅢa PLA2(rs5918),PEAR1(rs12041331)and PTGS1(rs10306114)were detected by fluorescence staining in situ hybridization.The frequency distribution and allele distribution of genotype were analyzed.The results were analyzed whether there were statistical differences in the distribution of related alleles between the Han NSTEMI population and some populations in the 1000 Genomes database.Results:In the Han NSTEMI population,the genotype frequencies of GPⅢa PLA2(rs5918)locus were TT 97.20%,TC 2.80%and CC 0%,the allele frequencies were T 98.60%and C 1.40%.The genotype frequencies of PEAR1(rs12041331)locus were GG 42.06%,GA 44.86%and AA 13.08%,the allele frequencies were G 64.49%and A 35.51%.The genotypes at the PTGS1(rs10306114)locus were all AA(100%),no AG or GG genotype was found.Conclusion:In the NSTEMI population of Han nationality,the mutation at GPⅢa PLA2(rs5918)site related to aspirin antiplatelet pharmacology is rare,and there is no mutation at PTGS1(rs10306114)site.Wild homozygotes are dominant in these two gene loci,while mutations in PEAR1(rs12041331)are more common.Some of the findings in this study are similar to those in previous reports or other populations included in the relevant database;however,some results differ from previous reports or other populations。 展开更多
关键词 ASPIRIN ANTIPLATELET Non-ST-segment elevation myocardial INFARCTION Gene polymorphism Genotype distribution
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Interaction between catechol-O-methyltransferase Val/Met polymorphism and cognitive reserve for negative symptoms in schizophrenia
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作者 Wen-Peng Hou Xiang-Qin Qin +6 位作者 Wei-Wei Hou Yun-Yi Han Qi-Jing Bo Fang Dong Fu-Chun Zhou Xian-Bin Li Chuan-Yue Wang 《World Journal of Psychiatry》 SCIE 2024年第5期695-703,共9页
BACKGROUND Cognitive reserve(CR)and the catechol-O-methyltransferase(COMT)Val/Met polymorphism are reportedly linked to negative symptoms in schizophrenia.However,the regulatory effect of the COMT genotype on the rela... BACKGROUND Cognitive reserve(CR)and the catechol-O-methyltransferase(COMT)Val/Met polymorphism are reportedly linked to negative symptoms in schizophrenia.However,the regulatory effect of the COMT genotype on the relationship between CR and negative symptoms is still unexamined.AIM To investigate whether the relationship between CR and negative symptoms could be regulated by the COMT Val/Met polymorphism.METHODS In a cross-sectional study,54 clinically stable patients with schizophrenia underwent assessments for the COMT genotype,CR,and negative symptoms.CR was estimated using scores in the information and similarities subtests of a short form of the Chinese version of the Wechsler Adult Intelligence Scale.RESULTS COMT Met-carriers exhibited fewer negative symptoms than Val homozygotes.In the total sample,significant negative correlations were found between negative symptoms and information,similarities.Associations between information,similarities and negative symptoms were observed in Val homozygotes only,with information and similarities showing interaction effects with the COMT genotype in relation to negative symptoms(information,β=-0.282,95%CI:-0.552 to-0.011,P=0.042;similarities,β=-0.250,95%CI:-0.495 to-0.004,P=0.046).CONCLUSION This study provides initial evidence that the association between negative symptoms and CR is under the regulation of the COMT genotype in schizophrenia. 展开更多
关键词 Catechol-O-methyltransferase Val/Met polymorphism Cognitive reserve Crystallized intelligence Negative symptoms SCHIZOPHRENIA
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AGTR1 A1166C gene polymorphism is associated with the effectiveness of valsartan monotherapy in Chinese patients with essential hypertension:A retrospective analysis
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作者 Hanzhong Yu Lei Li +5 位作者 Shuyao Wei Qianqian Kong Wei Nu Bo Dong Yuewu Zhao Li Wang 《Asian Pacific Journal of Tropical Medicine》 SCIE CAS 2024年第9期418-424,共7页
Objective:To investigate whether angiotensinⅡtype 1 receptor(AGTR1 A1166C)gene polymorphism was associated with the effectiveness of valsartan monotherapy in Chinese patients with essential hypertension.Methods:This ... Objective:To investigate whether angiotensinⅡtype 1 receptor(AGTR1 A1166C)gene polymorphism was associated with the effectiveness of valsartan monotherapy in Chinese patients with essential hypertension.Methods:This retrospective analysis included 198 patients(≥18 years of age)who received valsartan monotherapy(80 mg/day)for newly developed essential hypertension at the authors’center between January 1,2020 and December 31,2023.Genotyping for AGTR1 A1166C gene polymorphism was done by polymerase chain reaction(PCR)-melting curve analysis of genomic DNA from peripheral blood samples.A dominant genetic model for AGTR1 A1166C(AA genotype versus AC+CC genotype)was used.Multivariate regression analysis of baseline variables and AGTR1 polymorphism was conducted to identify predictors of target blood pressure attainment(<140/90 mmHg)at the 4-week follow-up.Results:The median age of the 198 patients was(53.7±13.5)years,and 58%were men.Genotyping assays showed that 164 patients had the AA genotype,and 34 patients were of the AC/CC genotype,including 30 with the AC genotype and 4 with the CC genotype.Allele distribution was consistent with Hardy Weinberg equilibrium.109 Patients(55.1%)attained the blood pressure target.Multivariate analysis showed that smoking(versus no smoking,HR 0.314,95%CI 0.159-0.619,P=0.001)and AGTR1 A1166C AA genotype(versus AC/CC,HR 2.927,95%CI 1.296-6.611,P=0.023)were significant and independent predictors of target attainment.25 Patients(73.5%)with AGTR1 A1166C AC/CC genotype attained the target versus 51.2%(51/164)of patients with AGTR1 A1166C AA genotype(P=0.017).Patients with AGTR1 A1166C AC/CC genotype had a significantly greater reduction in systolic blood pressure[(33.1±10.8)mmHg versus(29.2±11.7)mmHg in AA carriers;(P=0.029)].Conclusions:Hypertensive patients carrying one or two C alleles of the AGTR1 A1166C gene were more responsive to valsartan treatment. 展开更多
关键词 Essential hypertension AngiotensinⅡtype 1 receptor antagonist VALSARTAN AGTR1 A1166C Gene polymorphism
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Association between 5-HTR1A gene C-1019G polymorphism and antidepressant response in patients with major depressive disorder:A meta-analysis
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作者 Huai-Neng Wu Shuang-Yue Zhu +2 位作者 Li-Na Zhang Bian-Hong Shen Lian-Lian Xu 《World Journal of Psychiatry》 SCIE 2024年第10期1573-1582,共10页
BACKGROUND Major depressive disorder(MDD)is a substantial global health concern,and its treatment is complicated by the variability in individual response to antide-pressants.AIM To consolidate research and clarify th... BACKGROUND Major depressive disorder(MDD)is a substantial global health concern,and its treatment is complicated by the variability in individual response to antide-pressants.AIM To consolidate research and clarify the impact of genetic variation on MDD treatment outcomes.METHODS Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines,a systematic search across PubMed,EMBASE,Web of Science,and the Cochrane Library was conducted without date restrictions,utilizing key terms related to MDD,serotonin 1A receptor polymorphism(5-HTR1A),C-1019G polymorphism,and antidepressant response.Studies meeting inclusion criteria were thoroughly screened,and quality assessed using the Newcastle-Ottawa Scale.Statistical analyses,includingχ2 and I²values,were used to evaluate heterogeneity and fixed-effect or random-effect models were applied accordingly.RESULTS The initial search yielded 1216 articles,with 11 studies meeting criteria for inclusion.Analysis of various genetic models showed no significant association between the 5-HTR1A C-1019G polymorphism and antidepressant efficacy.The heterogeneity was low to moderate,and no publication bias was detected through funnel plot symmetry and Egger's and Begg's tests.CONCLUSION This meta-analysis does not support a significant association between the 5-HTR1A C-1019G polymorphism and the efficacy of antidepressant treatment in MDD.The findings call for further research with larger cohorts to substantiate these results and enhance the understanding of antidepressant pharmacogenetics. 展开更多
关键词 Major depressive disorder Antidepressant efficacy 5-HTR1A gene C-1019G polymorphism META-ANALYSIS
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Research on the Correlation Between rs2110385 Polymorphisms of the Visfatin Gene and Nonproliferative Diabetic Retinopathy
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作者 Min Zhang Rong Li +2 位作者 Wei-guo Ma Xiao-hong Yin Ya Li 《Journal of Clinical and Nursing Research》 2024年第2期220-227,共8页
Objective:To investigate the association between rs2110385 polymorphisms of the visfatin gene and the risk of type 2 diabetic retinopathy(DR).Methods:172 Han subjects were selected from Xi’an Shaanxi Province;140 pat... Objective:To investigate the association between rs2110385 polymorphisms of the visfatin gene and the risk of type 2 diabetic retinopathy(DR).Methods:172 Han subjects were selected from Xi’an Shaanxi Province;140 patients with type 2 diabetes mellitus(T2DM)and 32 normal controls(NC)were selected from our hospital.Patients with diabetes were divided into a non-DR group(T2DM)(n=69)and a nonproliferative diabetic retinopathy Group(DR)(n=71)after dilated fundus photography and fundus fluorescein angiography.rs2110385/AluⅠgenotypes were detected by standardized polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP),and the differences in the detection rates of different genotypes in the above populations were compared.Results:1)The visfatin level in the DR Group was significantly higher than that in the NC and T2DM groups(P<0.05).2)The frequency of GG genotype and G allele of rs2110385 in the DR Group were higher than those in the T2DM and NC groups(80.3,69.6,50.0,86.6,79,65.6,P<0.05).3)There were significant differences in allele frequency and genotype frequency distribution of rs2110385 between the DR Group and the NC group(P<0.01).Conclusion:Visfatin increased in the nonproliferative diabetic retinopathy group and could be a potential indicator for the clinical prediction of DR.The G allele of the rs2110385 polymorphic site may be related to the risk of DR. 展开更多
关键词 VISFATIN Diabetic retinopathy Single nucleotide polymorphism Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)
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Association between Gene Polymorphisms and SNP-SNP Interactions of the Matrix Metalloproteinase 2 Signaling Pathway and the Risk of Vascular Senescence
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作者 LIAO Zhen Yu YANG Shuo +3 位作者 HU Song LIU Jia MAO Yong Jun SUN Shu Qin 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2024年第2期146-156,共11页
Objective This study aimed to explore the association of single nucleotide polymorphisms(SNP)in the matrix metalloproteinase 2(MMP-2)signaling pathway and the risk of vascular senescence(VS).Methods In this cross-sect... Objective This study aimed to explore the association of single nucleotide polymorphisms(SNP)in the matrix metalloproteinase 2(MMP-2)signaling pathway and the risk of vascular senescence(VS).Methods In this cross-sectional study,between May and November 2022,peripheral venous blood of151 VS patients(case group)and 233 volunteers(control group)were collected.Fourteen SNPs were identified in five genes encoding the components of the MMP-2 signaling pathway,assessed through carotid-femoral pulse wave velocity(cf PWV),and analyzed using multivariate logistic regression.The multigene influence on the risk of VS was assessed using multifactor dimensionality reduction(MDR)and generalized multifactor dimensionality regression(GMDR)modeling.Results Within the multivariate logistic regression models,four SNPs were screened to have significant associations with VS:chemokine(C-C motif)ligand 2(CCL2)rs4586,MMP2 rs14070,MMP2rs7201,and MMP2 rs1053605.Carriers of the T/C genotype of MMP2 rs14070 had a 2.17-fold increased risk of developing VS compared with those of the C/C genotype,and those of the T/T genotype had a19.375-fold increased risk.CCL2 rs4586 and MMP-2 rs14070 exhibited the most significant interactions.Conclusion CCL2 rs4586,MMP-2 rs14070,MMP-2 rs7201,and MMP-2 rs1053605 polymorphisms were significantly associated with the risk of VS. 展开更多
关键词 Vascular senescence Pulse wave velocity(PWV) Single nucleotide polymorphism(SNP) Matrix metalloproteinase 2(MMP-2) Extracellular matrix(ECM) Structural degradation Multifactor dimensionality reduction(MDR)
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Studies on Transferrin and Posttremsferr Polymorphism and Their Relationship with Performances in Red Steppe 被引量:6
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作者 张永宏 潘英树 +5 位作者 高妍 马倩 刘同欣 秦莹 赵志辉 张嘉保 《Agricultural Science & Technology》 CAS 2008年第5期109-112,共4页
[Objective] The aim of this study was to investigate the correlation between blood protein polymorphism of red steppe and its performance.[Method]Two blood protein polymorphic loci were detected in transferring(Tf)and... [Objective] The aim of this study was to investigate the correlation between blood protein polymorphism of red steppe and its performance.[Method]Two blood protein polymorphic loci were detected in transferring(Tf)and posttremsferr(Ptf)from thirteen red steppes and eighteen hybrid of limousin and red steppe by polyacrylamide gel electrophoresis.[Result]Tf and Ptf were controlled by three and two alleles respectively.[Conclusion]The variance analysis of blood protein polymorphic loci and its performance indicates that two protein loci have a positive or negative correlation with some traits of red steppe and the improved limousin cattle population. 展开更多
关键词 RED STEPPE Transferring Posttremsferr polymorphism performance
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Genetic Polymorphism of Eighteen Lycium barbarum Resources Based on nrDNA ITS Sequence 被引量:6
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作者 石志刚 安巍 +2 位作者 焦恩宁 赵建华 王亚军 《Agricultural Science & Technology》 CAS 2008年第3期53-55,共3页
[Objective] The study aimed to investigate the genetic polymorphism of eighteen Lycium barbarum resources via nrDNA ITS sequencing. [Method] The genomic DNAs from Lycium barbarum leaves were isolated by modified CTAB ... [Objective] The study aimed to investigate the genetic polymorphism of eighteen Lycium barbarum resources via nrDNA ITS sequencing. [Method] The genomic DNAs from Lycium barbarum leaves were isolated by modified CTAB method for PCR amplification on the nrDNA ITS region using specifically synthesized primers; the amplified fragments were cloned and sequenced, then the sequencing results were clustered. [Result] nrDNA ITS sequences of the tested eighteen Lycium barbarum were firstly obtained in the present study. For all eighteen tested materials, the variation range of whole ITS region was 559-634 bp, with an average of 612 bp; alignment analyses showed that the whole length of internal transcribed spacer (ITS1+ITS2) was 480 bp, within which there are 194 variation sites (accounting for 40.4%) and 286 conserved sites (accounting for 59.6%). The cluster results showed that the eighteen tested materials could be grouped into three classes. [Conclusion] Analysis of nrDNA ITS sequence may avail to identify the Lycium barbarum germplasm resources. 展开更多
关键词 LYCIUM Linn. ITS SEQUENCE DNA SEQUENCING Genetic polymorphism
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Association of Polymorphisms of Leptin Gene with Body Weight and Body Sizes Indexes in Chinese Indigenous Cattle 被引量:8
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作者 杨东英 陈宏 +6 位作者 王新庄 田志环 唐立刚 张争锋 雷初朝 张良志 王轶敏 《Journal of Genetics and Genomics》 SCIE CAS CSCD 北大核心 2007年第5期400-405,共6页
PCR-SSCP was used to analyze the polymorphism of leptin gene in 539 samples of six cattle breeds, namely Nanyang (NY), Qinchuan (QC), Jiaxianred (JXR), Xizhen (XZ), Luxi (LX), and Holstein cow (HOL) breeds... PCR-SSCP was used to analyze the polymorphism of leptin gene in 539 samples of six cattle breeds, namely Nanyang (NY), Qinchuan (QC), Jiaxianred (JXR), Xizhen (XZ), Luxi (LX), and Holstein cow (HOL) breeds. PCR products with a 330 bp were amplified and sequenced. The results showed that the frequencies of alleles A/B of NY, QC, JXR, XZ, LX, and HOL breeds were 0.558/0.442, 0.492/0.508, 0.571/0.429, 0.658/0.342, 0.591/0.409, and 0.615/0.385, respectively. The association of variations of leptin gene with growth traits in NY, QC, JXR breeds was analyzed. Some indexes of the individuals with genotype BB were higher than that with genotype AA and AB in NY breed, such as the indexes of body length, heart length, body weight, hucklebone width, body height, and average day gain. The height at hip cross of the individuals with genotype BB was higher than that of those with genotype AA and AB in QC breed (P 〈 0.05). So leptin gene may be one of the candidate genes for growth traits with height at hip cross, but not for body weight, heart length, and body length trait. However, the height at hip cross and hucklebone width of the individuals with genotype AB and BB were higher than that of those with genotype AA in JXR breed (P 〈 0.05), but the difference was not statistically significant in body weight and body sizes (body height, body length, and heart length). And the polymorphisms in leptin gene were caused by G→T transversion at the 66th bp position, A→C transversion at the 67th bp position and G→T transversion at the 299th bp position. These results may be applied to marker-assisted selection of Chinese cattle breeds. 展开更多
关键词 Chinese indigenous cattle leptin gene PCR-SSCP polymorphism growth traits
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The Effects of Apolipoprotein E Polymorphism on Serum Lipids, Lipoproteins and Apolipoproteins Variation 被引量:3
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作者 潘闽 朱健华 +2 位作者 袁瑾 王惠民 刘志华 《Journal of Nanjing Medical University》 2003年第4期196-200,共5页
Objective: To study the effects of Apolipoprotein E (ApoE) polymorphism onserum levels of lipids, lipoproteins and apolipoproteins. Methods: Fragments of ApoE gene forthex-on containing codon 112 and 158 polymorphic l... Objective: To study the effects of Apolipoprotein E (ApoE) polymorphism onserum levels of lipids, lipoproteins and apolipoproteins. Methods: Fragments of ApoE gene forthex-on containing codon 112 and 158 polymorphic locus were amplified by PCR, and then digested untilCfo I endonuclease. Genotypes and alleles frequencies of 168 healthy persons in Jiangsu area werecalculated. The effects of ApoE genotypes and alleles on serum lipids, lipoproteins andapolipoproteins variation were analyzed. Results: The effects of ApoE alleles on total cholesterol(TC), law density lipoprotein-cholesterol (LDL-C), ApoB was: along a decreasing gradientε_4>ε_3>ε_2. The effect of ε_4 allele was to increase serum levels of TC, LDL-C and ApoB, andthe ε_2 allele had an effect opposite to that of ε_4 allele. Conclusion: ApoE polymorphism is anindependent genetic factor on individual serum levels of lipids and apolipoproteins. 展开更多
关键词 Apolipoprotein E polymorphism polymerase chain reaction restrictionfragment length polymorphism
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Polymorphism of FUT1 Gene and Its Relationship with Litter Size in Northeast Hebao Pigs 被引量:1
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作者 朱弘焱 赵颂 +1 位作者 赵微 苏玉虹 《Animal Husbandry and Feed Science》 CAS 2009年第4期1-3,28,共4页
[ Objective] To analyze the FUT1 gene polymorphism of Hebao pigs and its relationship with litter size and provide reference for conservation, breeding, development and utilization of Hebao pigs. [Method] The DNA was ... [ Objective] To analyze the FUT1 gene polymorphism of Hebao pigs and its relationship with litter size and provide reference for conservation, breeding, development and utilization of Hebao pigs. [Method] The DNA was extracted from Hebao pigs' ears, and the polymorphism of FUT1 gene was detected by PCR-RFLP. Then the relationship between genotype and litter size was analyzed. [Result] The FUT1 gene had three kinds of genotypes, GG, AG and AA, as indicated by digestion with Hin6 I. The genotype frequency of AA was 0.115 9, and the allele frequency of A was 0.275 4. The average litter size from the 1 = parity to the 5th parity was higher in the individuals with the genotype AA than in those with the genotype AG or GG. And this difference was significant in average litter size of the 3th parity and the 4th parity ( P 〈 0.05). [ Conclusion ] The FUT-1 gene is polymorphic in Hebao pigs, and the allele frequency is similar to that of foreign Duroc pigs but greatly different from that of other breeds such as Landrace, Large white, and Landrace x Large white pigs. The genotype AA is a prevalent genotype for litter trait. 展开更多
关键词 Hebao pigs FUT1 gene polymorphism Litter size
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