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与 2 型糖尿病的 、 、 、 单核苷酸多态性的关联研究。

Association Study of , , , and Single-Nucleotide Polymorphisms with Type 2 Diabetes Mellitus.

机构信息

División de Medicina Interna, Hospital General "Dr. Manuel Gea González", Mexico City 14080, Mexico.

Departamento de Biología Molecular e Histocompatibilidad, Hospital General "Dr. Manuel Gea González", Mexico City 14080, Mexico.

出版信息

Int J Mol Sci. 2024 Aug 24;25(17):9196. doi: 10.3390/ijms25179196.

DOI:10.3390/ijms25179196
PMID:39273144
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11395491/
Abstract

Type 2 diabetes mellitus (T2DM) is a complex chronic disease characterized by decreased insulin secretion and the development of insulin resistance. Previous genome-wide association studies demonstrated that single-nucleotide polymorphisms (SNPs) present in genes coding for ion channels involved in insulin secretion increase the risk of developing this disease. We determined the association of 16 SNPs found in , , , and genes and the increased probability of developing T2DM. In this work, we performed a case-control study in 301 Mexican adults, including 201 cases with diabetes and 100 controls without diabetes. Our findings indicate a moderate association between T2DM and the C allele, and the C/C genotype of rs312480 within . The CAG haplotype surprisingly showed a protective effect, whereas the CAC and CGG haplotypes have a strong association with T2DM. The C allele and C/C genotype of rs5219 were significantly associated with diabetes. Also, an association was observed between diabetes and the A allele and the A/A genotype of rs3753737 and rs175338 in . The TGG and CGA haplotypes were also found to be significantly associated. The findings of this study indicate that the SNPs examined could serve as a potential diagnostic tool and contribute to the susceptibility of the Mexican population to this disease.

摘要

2 型糖尿病(T2DM)是一种复杂的慢性疾病,其特征为胰岛素分泌减少和胰岛素抵抗的发展。先前的全基因组关联研究表明,编码参与胰岛素分泌的离子通道的基因中的单核苷酸多态性(SNPs)会增加患该病的风险。我们确定了 、 、 和 基因中 16 个 SNP 与 T2DM 发病概率增加之间的关联。在这项工作中,我们在 301 名墨西哥成年人中进行了病例对照研究,包括 201 名糖尿病患者和 100 名无糖尿病对照者。我们的研究结果表明,T2DM 与 基因中的 rs312480 的 C 等位基因和 C/C 基因型之间存在中度关联。令人惊讶的是,CAG 单倍型表现出保护作用,而 CAC 和 CGG 单倍型与 T2DM 具有很强的相关性。rs5219 的 C 等位基因和 C/C 基因型与糖尿病显著相关。此外,还观察到 rs3753737 和 rs175338 中的 A 等位基因和 A/A 基因型与糖尿病之间存在关联。TGG 和 CGA 单倍型也被发现与糖尿病显著相关。本研究的结果表明,所研究的 SNP 可以作为一种潜在的诊断工具,并有助于了解墨西哥人群对这种疾病的易感性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71d1/11395491/5eb9698a9418/ijms-25-09196-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71d1/11395491/5eb9698a9418/ijms-25-09196-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71d1/11395491/5eb9698a9418/ijms-25-09196-g001.jpg

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