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

Q3 Medicine
Shafayater Nur Nadia , Md. Hasib , Imrul Hasan , Abdullah Al Saba , Mohammad Sayem , Akio Ebihara , A.K.M. Mahbub Hasan , A.H.M. Nurun Nabi
{"title":"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","authors":"Shafayater Nur Nadia ,&nbsp;Md. Hasib ,&nbsp;Imrul Hasan ,&nbsp;Abdullah Al Saba ,&nbsp;Mohammad Sayem ,&nbsp;Akio Ebihara ,&nbsp;A.K.M. Mahbub Hasan ,&nbsp;A.H.M. Nurun Nabi","doi":"10.1016/j.endmts.2024.100189","DOIUrl":null,"url":null,"abstract":"<div><p>Zinc transporter ZnT8, encoded by SLC30A8, is expressed highly in pancreatic β-cells that effluxes Zn<sup>2+</sup> 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, χ<sup>2</sup> = 0.12, <em>p</em> = 0.72) nor with T2D (OR = 1.42, χ<sup>2</sup> = 0.52, <em>p</em> = 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.</p></div>","PeriodicalId":34427,"journal":{"name":"Endocrine and Metabolic Science","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666396124000335/pdfft?md5=8cd080f7d74462400c63427a320fb36d&pid=1-s2.0-S2666396124000335-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Genetic analyses of truncated variant rs200185429 in ZNT8 encoding SLC30A8 gene with respect to prediabetes and type 2 diabetes in Bangladeshi population\",\"authors\":\"Shafayater Nur Nadia ,&nbsp;Md. Hasib ,&nbsp;Imrul Hasan ,&nbsp;Abdullah Al Saba ,&nbsp;Mohammad Sayem ,&nbsp;Akio Ebihara ,&nbsp;A.K.M. Mahbub Hasan ,&nbsp;A.H.M. Nurun Nabi\",\"doi\":\"10.1016/j.endmts.2024.100189\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Zinc transporter ZnT8, encoded by SLC30A8, is expressed highly in pancreatic β-cells that effluxes Zn<sup>2+</sup> 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, χ<sup>2</sup> = 0.12, <em>p</em> = 0.72) nor with T2D (OR = 1.42, χ<sup>2</sup> = 0.52, <em>p</em> = 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.</p></div>\",\"PeriodicalId\":34427,\"journal\":{\"name\":\"Endocrine and Metabolic Science\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-06-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2666396124000335/pdfft?md5=8cd080f7d74462400c63427a320fb36d&pid=1-s2.0-S2666396124000335-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Endocrine and Metabolic Science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2666396124000335\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Endocrine and Metabolic Science","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2666396124000335","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic analyses of truncated variant rs200185429 in ZNT8 encoding SLC30A8 gene with respect to prediabetes and type 2 diabetes in Bangladeshi population

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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
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
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信