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An analysis of the association between a polymorphism of KCNJ11 and diabetic retinopathy in a Chinese Han population.

ABSTRACT: Genome-wide association studies (GWAS) have reported that the polymorphism rs5219 of the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) is associated with type 2 diabetes mellitus (T2DM). Given that diabetic retinopathy (DR) is one of the most common microvascular complications of T2DM, GWAS have identified a number of potential susceptibility genes for DR. However, only a fraction of them have been replicated in different studies and show consistent genetic associations with the occurrence of DR. The aim of the present study was to investigate whether common variants of KCNJ11 confer DR in a cohort of the Chinese Han population.A case-control study of 580 T2DM patients, including 105 T2DM with DR and 475 T2DM without DR was performed. A single nucleotide polymorphism (SNP) of KCNJ11 (rs5219) was genotyped, and its association with DR was explored using a dominant genetic model. Genotyping was performed by iPLEX technology. Univariate and multivariate logistic regression (MLR) analysis controlling for confounders was conducted to evaluate the association between rs5219 and DR.The A allele frequency of rs5219 was significantly higher in DR patients than that in the patients without DR (49.01% versus 38.68%, P <0.05). We found the minor A allele could increase the risk to develop DR (ORint = 1.58, 95% CI: 1.139 to 2.192 for allele and P = 0.006, ORint =1.607, 95% CI: 1.267 to 2.038 for genotype and P <0.001) in the Chinese Han population.Our findings provided evidence that KCNJ11 was associated with DR in Chinese Han patients with T2DM.

SUBMITTER: Liu NJ

PROVIDER: S-EPMC4301311 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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An analysis of the association between a polymorphism of KCNJ11 and diabetic retinopathy in a Chinese Han population.

Liu Nai-Jia NJ Wu Hui-Hui HH Li Yan-Liang YL Yang Zhen Z Tao Xiao-Ming XM Du Yan-Ping YP Wang Xuan-Chun XC Lu Bin B Zhang Zhao-Yun ZY Hu Ren-Ming RM Wen Jie J

European journal of medical research 20150109

<h4>Background</h4>Genome-wide association studies (GWAS) have reported that the polymorphism rs5219 of the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) is associated with type 2 diabetes mellitus (T2DM). Given that diabetic retinopathy (DR) is one of the most common microvascular complications of T2DM, GWAS have identified a number of potential susceptibility genes for DR. However, only a fraction of them have been replicated in different studies and show consistent ge ...[more]

PMID: 25573672

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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.

Project description:Objective: The purpose of this study was to investigate the relationship between GSDMB gene polymorphism and genetic susceptibility to cervical cancer in the Han population in Northeast China. Methods: In this case–control study, the genotypes and alleles of rs8067378 in the GSDMB gene were analyzed by multiplex polymerase chain reaction (PCR) and next-generation sequencing methods in 482 cervical cancer (CC) patients, 775 cervical squamous intraepithelial lesion (SIL) patients, and 495 healthy women. The potential relationships between the SNP of the GSDMB gene with SIL and CC were analyzed by multivariate logistic regression analysis combined with 10,000 permutation tests. Results: In the comparison between the SIL group and the control group, the genotype and allele distribution frequencies of rs8067378 SNP of the GSDMB gene were statistically significant (p = 0.0493 and p = 0.0202, respectively). The allele distribution frequencies of rs8067378 were also statistically significant in the comparison between high-grade cervical squamous intraepithelial lesion (HSIL) and low-grade cervical squamous intraepithelial lesion (LSIL) groups with control group ( p = 0.0483 and p = 0.0330, respectively). Logistic regression analysis showed that after adjusting for age, the rs8067378 SNP of the GSDMB gene was significantly associated with the reduced risk of SIL under the dominant model (p = 0.0213, OR = 0.764, CI = 0.607–0.961) and the additive model (p = 0.0199, OR = 0.814, and CI = 0.684–0.968), and its mutant gene G may play a role in the progression of healthy people to LSIL and even HSIL as a protective factor. However, there was no significant association between cervical cancer and its subtypes with the control group (p > 0.05). After 10,000 permutations, there was still no correlation that has provided evidence for the accuracy of our study. Conclusion: The results of this study showed that rs8067378 single nucleotide polymorphism of the GSDMB gene may reduce the risk of SIL and protect the susceptibility to cervical precancerous lesions in the Northeast Chinese Han population, but it has no significant correlation with the progression of cervical cancer.

Dataset Information

An analysis of the association between a polymorphism of KCNJ11 and diabetic retinopathy in a Chinese Han population.

Publications

An analysis of the association between a polymorphism of KCNJ11 and diabetic retinopathy in a Chinese Han population.

Similar Datasets

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