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Variants in multiple genes polymorphism association analysis of COPD in the Chinese Li population.

ABSTRACT: It is known that the contribution of risk alleles to chronic obstructive pulmonary disease (COPD) may vary between populations. Further, previous studies involving various ethnic groups have revealed associations between COPD and genetic polymorphisms in families with sequence similarity 13, member A (FAM13A), micro-RNA 2054 (MIR2054), SET domain containing protein 7 (SETD7), ring finger protein 150 (RNF150), hedgehog interacting protein (HHIP), and vascular endothelial growth factor A (VEGFA). Our objective was to explore the association between these gene polymorphism and COPD in members of Chinese Li minority population.The Chinese Li population case-control study was conducted to assess genetic associations with COPD risk. Seven single nucleotide polymorphisms (SNPs) located on chromosome 4, including FAM13A, MIR2054, SETD7, RNF150, and HHIP, and nine SNPs in the VEGFA gene were genotyped among 234 cases and 240 controls using Sequenom Mass-ARRAY(®) platform. Linkage disequilibrium (LD) analysis was performed using Haploview software and the associations of the SNP frequencies with COPD were analyzed using chi-square (?(2)) tests, genetic models analysis, and haplotype analysis.By ?(2) we found the minor allele "G" of rs17050782 was with increased COPD risk in allele model. In genetic models, we found the minor allele of rs7671167 (P=0.028 by dominant model) and rs17050782 (P=0.008 by recessive model) was associated with the increased risk of COPD disease. Likewise, an increased risk of developing COPD was associated with the "GGCGC" haplotype of VEGFA (odds ratio =1.48, 95% confidence interval =1.02-2.12, P=0.037).Our results were the first time to reveal that SNPs from FAM13A (rs7671167), SETD7 (rs17050782), and a haplotype of VEGFA ("GGCGC") are potential susceptibility loci associated with increased COPD risk in Chinese Li minority population.

SUBMITTER: Ding Y

PROVIDER: S-EPMC4524388 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Variants in multiple genes polymorphism association analysis of COPD in the Chinese Li population.

Ding Yipeng Y Yang Danlei D Zhou Long L Xu Junxu J Chen Yu Y He Ping P Yao Jinjian J Chen Jiannan J Niu Huan H Sun Pei P Jin Tianbo T

International journal of chronic obstructive pulmonary disease 20150727

<h4>Background</h4>It is known that the contribution of risk alleles to chronic obstructive pulmonary disease (COPD) may vary between populations. Further, previous studies involving various ethnic groups have revealed associations between COPD and genetic polymorphisms in families with sequence similarity 13, member A (FAM13A), micro-RNA 2054 (MIR2054), SET domain containing protein 7 (SETD7), ring finger protein 150 (RNF150), hedgehog interacting protein (HHIP), and vascular endothelial growth ...[more]

PMID: 26251585

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Project description:BACKGROUND:The aim of this study was to explore the association between diabetic retinopathy (DR) and the variants of uncoupling proteins (UCPs) genes in a Chinese population of type 2 diabetes, in total and in patients of different glycemic status separately. METHODS:This case-control study included a total of 3107 participants from two datasets, among which 662 were DR patients (21.31%). Eighteen tag single nucleotide polymorphisms (SNPs) of UCP1, UCP2, and UCP3 were selected as genetic markers. TaqMan probes, Sequenom MassARRAY MALDI-TOF mass spectrometry platform and Affymetrix Genome-Wide Human SNP Array were used for genotyping. Online SHEsis software was used for association analysis. Bonferroni correction was used for multiple comparisons correction. RESULTS:Three SNPs of UCP1: rs7688743 (A allele, OR?=?1.192, p?=?0.013), rs3811787 (T allele, OR?=?0.863, p?=?0.023), and rs10011540 (G allele, OR?=?1.368, p?=?0.004) showed association with DR after the adjustment of glucose, but only rs10011540 was marginally significantly associated with DR when Bonferroni correction was strictly applied (padj?=?0.048). In patients with uncontrolled glucose, rs7688743 (A allele, p?=?0.012, OR?=?1.309), rs10011540 (G allele, p?=?0.033, OR?=?1.432), and rs3811787 (T allele, p?=?0.022, OR?=?0.811) were associated with DR, while in participants with well controlled glucose, the rs2734827 of UCP3 was associated with DR (A allele, p?=?0.017, OR?=?0.532). Rs3811787 of UCP1 showed a protective effect to sight threatening DR (T allele, p =?0.007, OR?=?0.490), and the association existed after the adjustment for environmental factors and the correction. In patients with uncontrolled glucose, the rs3811787 of UCP1 (T allele, p =?0.017, OR?=?0.467) and the rs591758 of UCP3 (C allele, p =?0.026, OR?=?0.103) were associated with STDR. While in those with well controlled glucose, only the rs7688743 of UCP1 showed a protective effect (A allele, p =?0.024, OR?=?0.049). None of the associations remain significant when Bonferroni correction was strictly applied (all p <?0.05). CONCLUSIONS:The rs10011540 and rs3811787 of the UCP1 gene was marginally significantly associated with DR in Chinese type 2 diabetes patients. There might be different mechanisms of DR development in patients with different glycemic status.

Dataset Information

Variants in multiple genes polymorphism association analysis of COPD in the Chinese Li population.

Publications

Variants in multiple genes polymorphism association analysis of COPD in the Chinese Li population.

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