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越南京族人群中单核苷酸多态性与2型糖尿病和代谢综合征两种临床表型的关联

Association of Single-Nucleotide Polymorphisms with the Two Clinical Phenotypes Type 2 Diabetes Mellitus and Metabolic Syndrome in a Kinh Vietnamese Population.

作者信息

Truong Steven, Tran Nam Quang, Ma Phat Tung, Hoang Chi Khanh, Le Bao Hoang, Dinh Thang, Tran Luong, Tran Thang Viet, Gia Le Linh Hoang, Vu Hoang Anh, Mai Thao Phuong, Do Minh Duc

机构信息

Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA.

Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.

出版信息

Diabetes Metab Syndr Obes. 2022 Feb 3;15:307-319. doi: 10.2147/DMSO.S347830. eCollection 2022.

DOI:10.2147/DMSO.S347830
PMID:35140489
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8820255/
Abstract

PURPOSE

Genetic factors play an important role in the development of type 2 diabetes mellitus (T2DM) and metabolic syndrome (MetS). However, few genetic association studies related to these disorders have been performed with Vietnamese subjects. In this study, the potential associations of single nucleotide polymorphisms (SNPs) with T2DM and MetS in a Kinh Vietnamese population were investigated.

PATIENTS AND METHODS

A study with 768 subjects was conducted to examine the associations of four SNPs (rs266729, rs1501299, rs3774261, and rs822393) primarily with T2DM and secondarily with MetS. The TaqMan SNP genotyping assay was used to determine genotypes from subjects' DNA samples.

RESULTS

After statistical adjustment for age, sex, and body mass index, the SNP rs266729 was found to be associated with increased risk of T2DM under multiple inheritance models: codominant (OR = 2.30, 95% CI = 1.16-4.58), recessive (OR = 2.17, 95% CI = 1.11-4.26), and log-additive (OR = 1.32, 95% CI = 1.02-1.70). However, rs1501299, rs3774261, and rs822393 were not associated with risk for T2DM. Additionally, rs266729, rs3774261, and rs822393 were statistically associated with MetS, while rs1501299 was not. Haplotype analysis showed a strong linkage disequilibrium between the SNP pairs rs266729/rs822393 and rs1501299/rs3774261, and the haplotype rs266729(G)/rs822393(T) was not statistically associated with MetS.

CONCLUSION

The results show that rs266729 is a lead candidate SNP associated with increased risk of developing T2DM and MetS in a Kinh Vietnamese population, while rs3774261 is associated with MetS only. Further functional characterization is needed to uncover the mechanism underlying the potential genotype-phenotype associations.

摘要

目的

遗传因素在2型糖尿病(T2DM)和代谢综合征(MetS)的发生发展中起重要作用。然而,针对越南人群进行的与这些疾病相关的遗传关联研究较少。在本研究中,调查了越南京族人群中单核苷酸多态性(SNP)与T2DM和MetS的潜在关联。

患者与方法

对768名受试者进行研究,以检验4个SNP(rs266729、rs1501299、rs3774261和rs822393)主要与T2DM以及次要与MetS的关联。采用TaqMan SNP基因分型检测法从受试者的DNA样本中确定基因型。

结果

在对年龄、性别和体重指数进行统计调整后,发现SNP rs266729在多种遗传模型下与T2DM风险增加相关:共显性(OR = 2.30,95%CI = 1.16 - 4.58)、隐性(OR = 2.17,95%CI = 1.11 - 4.26)和对数加性(OR = 1.32,95%CI = 1.02 - 1.70)。然而,rs1501299、rs3774261和rs822393与T2DM风险无关。此外,rs266729、rs3774261和rs822393与MetS存在统计学关联,而rs1501299则无关联。单倍型分析显示SNP对rs266729/rs822393和rs1501299/rs3774261之间存在强连锁不平衡,并且单倍型rs266729(G)/rs822393(T)与MetS无统计学关联。

结论

结果表明,rs266729是越南京族人群中与T2DM和MetS发生风险增加相关的主要候选SNP,而rs3774261仅与MetS相关。需要进一步的功能表征来揭示潜在基因型 - 表型关联的机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a48f/8820255/29caa40c5335/DMSO-15-307-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a48f/8820255/29caa40c5335/DMSO-15-307-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a48f/8820255/29caa40c5335/DMSO-15-307-g0001.jpg

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