Dataset Information

Association of polymorphisms rs290487, rs864745, rs4430796 and rs23136 with type 2 diabetes in the Uyghur population in China.

ABSTRACT: Studies have showed a number of susceptibility genes variants such as transcription factor 7-like 2 (TCF7L2), potassium voltage-gated channel subfamily Q member 1 (KCNQ1), juxtaposed with another zinc finger protein 1 (JAZF1) and HNF1 homeobox B (HNF1B) been strongly associated with type 2 diabetes (T2D) in various ethnic groups. However, few studies have conducted in Uyghur, a Chinese minority ethnic group as an admixture population of Caucasians and East Asians. This study was performed to evaluate the association of genetic polymorphism with T2D susceptibility in the Uyghur population. The genomic samples from the blood of unrelated 284 T2D patients and 258 healthy controls were genotyped and analyzed using denaturing high performance liquid chromatography (DHPLC) assay. We found that four SNPs (rs290487, rs864745, rs4430796 and rs23136) in TCF7L2, JAZF1, HNF1B and KCNQ1 genetic regions show unique association with T2D in Uyghur population with an OR of 6.67295% (CI 1.06-1.48, P=0.002), an OR of 0.302 (CI 1.21-1.53, P=0.005) and an OR of 0.223 (CI 0.98-1.17, P=0.001), respectively. Subjects with mutant CC genotype of rs290487 were at high increased risk of T2D in Uyghur especially for the male subjects with an OR=11.782 (CI 1.12-1.53, P=0.001). Further metabolic evaluation confirmed that subject with rs290487 genotype have higher waste-hip circumference ratio (P<0.05), diastolic blood pressure (P<0.05), fasting blood glucose (P<0.05) and hemoglobin A1c levels (P<0.05). While mutant AA genotype for rs23136 (OR=0.223, CI 1.03-1.44, P=0.002) respectively were a protective factor in the Uyghur population. The rs231362 have also found been associated with fasting blood glucose and high-density lipoprotein respectively (P<0.05). However, none of the genotypes showed the significant association with T2D in local Han Chinese population. Taken together, we confirmed the rs290487, rs231362 and rs4430796 transcription variants may act as genetic risk factors for the development of T2D in the Uyghur population in China and these results might provide supporting evidences for T2D diagnosis for Uyghur people in the future.

SUBMITTER: Deng X

PROVIDER: S-EPMC6965464 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Association of polymorphisms rs290487, rs864745, rs4430796 and rs23136 with type 2 diabetes in the Uyghur population in China.

Deng Xiaolong X Liu Hao H Nalima Qiqiger Aleteng A Zhu Jun J

International journal of clinical and experimental pathology 20170801 8

Studies have showed a number of susceptibility genes variants such as transcription factor 7-like 2 (TCF7L2), potassium voltage-gated channel subfamily Q member 1 (KCNQ1), juxtaposed with another zinc finger protein 1 (JAZF1) and HNF1 homeobox B (HNF1B) been strongly associated with type 2 diabetes (T2D) in various ethnic groups. However, few studies have conducted in Uyghur, a Chinese minority ethnic group as an admixture population of Caucasians and East Asians. Thi ...[more]

PMID: 31966747

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Project description:To explore the association between CETP gene polymorphisms and metabolic syndrome (MS), as well as the relationship between the CETP gene polymorphisms and each component of MS. A total of 571 individuals which were randomly selected from 5692 Uyghur adults were subdivided into two groups, including 280 patients with MS and 291 control subjects, using the group-matching method after matching for gender. We detected CETP polymorphisms (rs5882, rs1800775, rs3764261, rs12149545, rs711752, and rs708272) by using the Snapshot method. (1) Significant differences were found involving the frequency distribution of genotypes and alleles of rs1800775, rs3764261, rs12149545, rs711752, and rs708272 between the control and MS groups (all p < 0.05). (2) rs1800775, rs3764261, rs12149545, rs711752, and rs708272 polymorphisms were significantly related to the risk of MS (all p < 0.05). (3) The rs1800775 polymorphism was associated with high fasting blood glucose levels and low high density lipoprotein cholesterol (HDL-C); rs3764261 and rs12149545 polymorphisms were associated with all components of MS except high blood pressure; rs711752 and rs708272 polymorphisms were associated with low HDL-C (all p < 0.05). (4) Complete linkage disequilibrium (LD) was identified for two pairs of single nucleotide polymorphisms (SNPs) (rs3764261 and rs12149545 (D' = 1.000, r² = 0.931), rs711752 and rs708272 (D' = 1.000, r² = 0.996)). (5) The A-G-G-G-C (p = 0.013, odds ratio [OR] = 0.622, 95% confidence interval [95% CI] = 0.427-0.906) and A-T-A-A-T (p < 0.001, OR = 0.519, 95% CI = 0.386-0.697) haplotypes were more frequent in the control group than in the case group. Conclusions: The rs1800775, rs3764261, rs12149545, rs711752, and rs708272 polymorphisms of CETP were associated with MS and its components among the Uyghur ethnic group. Complete LD was found between two pairs of SNPs (rs3764261 and rs12149545, rs711752, and rs708272). The A-G-G-G-C and A-T-A-A-T haplotypes might be protective factors for MS.

Project description:BACKGROUND We investigated the association between 8 single-nucleotide polymorphisms (SNPs) at 3 genetic loci (CDKAL1, CDKN2A/2B and FTO) with type 2 diabetes (T2D) in a Uyghur population. MATERIAL AND METHODS A case-control study of 879 Uyghur patients with T2D and 895 non-diabetic Uyghur controls was conducted at the Hospital of Xinjiang Medical University between 2010 and 2013. Eight SNPs in CDKAL1, CDKN2A/2B and FTO were analyzed using Sequenom MassARRAY®SNP genotyping. Factors associated with T2D were assessed by logistic regression analyses. Gene-gene and gene-environment interactions were analyzed by generalized multifactor dimensionality reduction. RESULTS Genotype distributions of rs10811661 (CDKN2A/2B), rs7195539, rs8050136, and rs9939609 (FTO) and allele frequencies of rs8050136 and rs9939609 differed significantly between diabetes and control groups (all P<0.05). While rs10811661, rs8050136, and rs9939609 were eliminated after adjusting for covariates (P>0.05), rs7195539 distribution differed significantly in co-dominant and dominant models (P<0.05). In gene-gene interaction analysis, after adjusting for covariates the two-locus rs10811661-rs7195539 interaction model had a cross-validation consistency of 10/10 and the highest balanced accuracy of 0.5483 (P=0.014). In gene-environment interaction analysis, the 3-locus interaction model TG-HDL-family history of diabetes had a cross-validation consistency of 10/10 and the highest balanced accuracy of 0.7072 (P<0.001). The 4-locus interaction model, rs7195539-TG-HDL-family history of diabetes had a cross-validation consistency of 8/10 (P<0.001). CONCLUSIONS Polymorphisms in CDKN2A/2B and FTO, but not CDKAL1, may be associated with T2D, and alleles rs8050136 and rs9939609 are likely risk alleles for T2D in this population. There were potential interactions among CDKN2A/2B (rs10811661) - FTO (rs7195539) or FTO (rs7195539)-TG-HDL-family history of diabetes in the pathogenesis of T2D in a Uyghur population.

Dataset Information

Association of polymorphisms rs290487, rs864745, rs4430796 and rs23136 with type 2 diabetes in the Uyghur population in China.

Publications

Association of polymorphisms rs290487, rs864745, rs4430796 and rs23136 with type 2 diabetes in the Uyghur population in China.

Similar Datasets

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