Genetic analyses of truncated variant rs200185429 in ZNT8 encoding SLC30A8 gene with respect to prediabetes and type 2 diabetes in Bangladeshi population

Shafayater Nur Nadia , Md. Hasib , Imrul Hasan , Abdullah Al Saba , Mohammad Sayem , Akio Ebihara , A.K.M. Mahbub Hasan , A.H.M. Nurun Nabi
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Abstract

Zinc transporter ZnT8, encoded by SLC30A8, is expressed highly in pancreatic β-cells that effluxes Zn2+ into insulin granules which is required to secret insulin from the granules. Genome-wide association study identified twelve loss of function mutations in SLC30A8 that play protective role against type 2 diabetes (T2D). This study aimed to find genetic association of a protein truncating variant rs200185429 in Bangladeshi healthy individuals (n = 184), patients with prediabetes (n = 130) and patients with T2D (n = 179). Genetic association study with respect to rs200185429 was performed using TaqMan® probe followed by allelic discrimination plots. Wild type CC genotype was found to be evenly distributed in healthy individuals (96.2 %), patients with prediabetes (95.38 %) and patients with T2D (94.41 %). CT genotype was more prevalent in T2D (5.59 %), less in healthy individuals (3.38 %). However, TT genotype was absent in the study participants. Mutant T allele was neither associated with prediabetes (OR = 1.22, χ2 = 0.12, p = 0.72) nor with T2D (OR = 1.42, χ2 = 0.52, p = 0.47). Similarly, none of the genetic inheritance models showed statistically significant association with T2D. Thus, a large-scale study is warranted to establish our finding regarding the association of rs200185429 with prediabetes and T2D in Bangladeshi population.

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编码 SLC30A8 基因的 ZNT8 截短变异 rs200185429 与孟加拉人糖尿病前期和 2 型糖尿病的遗传分析
由 SLC30A8 编码的锌转运体 ZnT8 在胰腺 β 细胞中高度表达,它能将 Zn2+ 外流到胰岛素颗粒中,而胰岛素颗粒分泌胰岛素需要 Zn2+ 。全基因组关联研究发现,SLC30A8 中的 12 个功能缺失突变对 2 型糖尿病(T2D)具有保护作用。本研究旨在发现蛋白质截短变异 rs200185429 与孟加拉健康人(184 人)、糖尿病前期患者(130 人)和 T2D 患者(179 人)的遗传关联。使用 TaqMan® 探针对 rs200185429 进行了遗传关联研究,并绘制了等位基因鉴别图。结果发现,野生型 CC 基因型在健康人(96.2%)、糖尿病前期患者(95.38%)和 T2D 患者(94.41%)中均匀分布。CT 基因型在 T2D 患者中更为普遍(5.59%),而在健康人中则较少(3.38%)。然而,研究参与者中没有 TT 基因型。突变 T 等位基因既与糖尿病前期无关(OR = 1.22,χ2 = 0.12,p = 0.72),也与 T2D 无关(OR = 1.42,χ2 = 0.52,p = 0.47)。同样,没有一个遗传模型显示与终末期糖尿病有统计学意义的关联。因此,有必要进行大规模研究,以确定我们关于 rs200185429 与孟加拉人群中糖尿病前期和 T2D 相关性的发现。
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来源期刊
Endocrine and Metabolic Science
Endocrine and Metabolic Science Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
2.80
自引率
0.00%
发文量
4
审稿时长
84 days
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