PDX1 和 MC4R 基因多态性与中国汉族 2 型糖尿病发病风险相关。
PDX1 and MC4R genetic polymorphisms are associated with type 2 diabetes mellitus risk in the Chinese Han population.
机构信息
Department of Endocrinology and Second Department of Geriatrics, The First Affiliated Hospital of Xi'an Jiaotong University, 277 West Yanta Road, Xi'an, 710061, Shaanxi, China.
Department of Oncology, East Branch of the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710089, Shaanxi, China.
出版信息
BMC Med Genomics. 2021 Oct 25;14(1):249. doi: 10.1186/s12920-021-01037-3.
BACKGROUND
Diabetes mellitus (DM) is a complex metabolic disease that is caused by a complex interplay between genetic and environmental factors. This research aimed to investigate the association of genetic polymorphisms in PDX1 and MC4R with T2DM risk.
METHODS
The genotypes of 10 selected SNPs in PDX1 and MC4R were identified using the Agena MassARRAY platform. We utilized odds ratio (OR) and 95% confidence intervals (CIs) to assess the correlation between genetic polymorphisms and T2DM risk.
RESULTS
We found that PDX1-rs9581943 decreased susceptibility to T2DM among in a Chinese Han population (OR = 0.76, p = 0.045). We also found that selected genetic polymorphisms in PDX1 and MC4R could modify the risk of T2DM, which might also be influenced by age, sex, BMI, smoking status, and drinking status (p < 0.05).
CONCLUSIONS
We concluded that PDX1 and MC4R genetic variants were significantly associated with T2DM risk in a Chinese Han population. These single polymorphic markers may be considered to be new targets in the assessment and prevention of T2DM among Chinese Han people.
背景
糖尿病（DM）是一种复杂的代谢性疾病，由遗传和环境因素之间的复杂相互作用引起。本研究旨在探讨 PDX1 和 MC4R 基因多态性与 T2DM 风险的关联。
方法
使用 Agena MassARRAY 平台鉴定 PDX1 和 MC4R 中 10 个选定 SNP 的基因型。我们利用比值比（OR）和 95%置信区间（CI）来评估遗传多态性与 T2DM 风险之间的相关性。
结果
我们发现 PDX1-rs9581943 在中国汉族人群中降低了 T2DM 的易感性（OR=0.76，p=0.045）。我们还发现，PDX1 和 MC4R 中的选定遗传多态性可能会改变 T2DM 的风险，而这也可能受到年龄、性别、BMI、吸烟状况和饮酒状况的影响（p<0.05）。
结论
我们得出结论，PDX1 和 MC4R 基因变异与中国汉族人群的 T2DM 风险显著相关。这些单一位点多态性标记物可能被认为是评估和预防中国汉族人群 T2DM 的新靶点。
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