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一种与埃及 2 型糖尿病患者血糖控制和β细胞功能相关的新型单核苷酸多态性。

A Novel Single-Nucleotide Polymorphism Associated With Glycemic Control and β-Cell Function in Egyptian Type 2 Diabetic Patients.

机构信息

Department of Biochemistry, Faculty of Pharmacy, Ain Shams University, Cairo, Egypt.

Pharmacology and Biochemistry Department, Faculty of Pharmacy, The British University in Egypt, Cairo, Egypt.

出版信息

Front Endocrinol (Lausanne). 2020 Jul 30;11:450. doi: 10.3389/fendo.2020.00450. eCollection 2020.

DOI:10.3389/fendo.2020.00450
PMID:32903749
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7438810/
Abstract

Serine protease inhibitor B1 (SerpinB1) is a neutrophil elastase inhibitor that has been proved to be associated with type 2 diabetes mellitus and pancreatic β-cell proliferation. In this study, we investigated 2 SNPs, rs114597282 and rs15286, regarding their association with diabetes risk and various anthropometric and biochemical parameters in Egyptian type 2 diabetic patients. A total of 160 subjects (62 control and 98 type 2 diabetic patients) participated in this study. Various anthropometric and biochemical parameters were assessed. Genotyping assay for the two SNPs was done using TaqMan genotyping assays. The association of rs15286 variants with risk of diabetes, various biochemical parameters, and glycemic control in diabetic patients was assessed. All genotyped subjects were found to be homozygous TT for rs114597282. All genotype variants of rs15286 were found in our Egyptian subjects with A being the minor allele. The SNP rs15286 was not found to be associated with risk of diabetes. The AA genotype was found to be associated with lower fasting plasma glucose, lower HbA%, and better β-cell function and glycemic control in diabetic patients. The G allele was associated with poor glycemic control. The genotypes AA, AG, and GG of gene SNP rs15286 are all represented in the studied sample; however, it is not associated with risk of diabetes. Genotype AA of SNP rs15286 is associated with better glycemic control and better β-cell function in diabetic patients, while the G allele potentially represents the "risk allele" of poor glycemic control.

摘要

丝氨酸蛋白酶抑制剂 B1(SerpinB1)是一种中性粒细胞弹性蛋白酶抑制剂,已被证明与 2 型糖尿病和胰腺β细胞增殖有关。在这项研究中,我们研究了 2 个 SNP(rs114597282 和 rs15286),探讨它们与埃及 2 型糖尿病患者的糖尿病风险以及各种人体测量学和生化参数的关系。共有 160 名受试者(62 名对照和 98 名 2 型糖尿病患者)参与了这项研究。评估了各种人体测量学和生化参数。使用 TaqMan 基因分型检测试剂盒对这两个 SNP 进行基因分型检测。评估了 rs15286 变体与糖尿病风险、各种生化参数以及糖尿病患者血糖控制的关系。所有基因分型的受试者均为 rs114597282 的纯合 TT。我们的埃及受试者均携带 rs15286 的所有基因型变体,其中 A 是次要等位基因。SNP rs15286 与糖尿病风险无关。AA 基因型与空腹血糖降低、HbA%降低以及糖尿病患者的β细胞功能和血糖控制更好相关。G 等位基因与血糖控制不良相关。基因 SNP rs15286 的 AA、AG 和 GG 基因型均在研究样本中存在;然而,它与糖尿病风险无关。SNP rs15286 的 AA 基因型与糖尿病患者更好的血糖控制和更好的β细胞功能相关,而 G 等位基因可能代表血糖控制不良的“风险等位基因”。

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