Genetic association study for three single nucleotide polymorphisms related to type 2 diabetes in Egyptian population

IF 1.2 Q4 GENETICS & HEREDITY Egyptian Journal of Medical Human Genetics Pub Date : 2024-07-08 DOI:10.1186/s43042-024-00546-x
Galena W. Zareef, Ibrahim M. Moatmed, Nourhan W. Shehata, Mohamed N. Saad, Olfat G. Shaker
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Abstract

Diabetes mellitus is a disease that may result from interaction between environmental factors and a strong genetic component. The current study is aimed at exploring three single nucleotide polymorphisms to identify the associated ones with type 2 diabetes in the Egyptian society. The studied single nucleotide polymorphisms (rs10096097 in GOAT, rs6740584 in CREB1, and rs62521874 in MAFA) were examined via genotyping cases (n = 98) and irrelevant healthy subjects (n = 82). Associations were checked using dominant, recessive, genotypic, allelic, and Cochran–Armitage trend models. By comparing diabetic patients with controls, rs6740584 was associated with type 2 diabetes by employing all used models except the recessive model. Rs10096097 was connected with type 2 diabetes using the genotypic association, Cochran–Armitage trend test, and recessive model and not any other model. Rs62521874 was not linked with type 2 diabetes in all models. Moreover, haplotype association for rs10096097 and rs62521874 was conducted as these two single nucleotide polymorphisms were located on the same chromosome. The haplotype pattern rs10096097:G—rs62521874:A was identified as a biomarker for type 2 diabetes susceptibility in the Egyptian community. The GOAT and CREB1 polymorphisms showed susceptibility to type 2 diabetes. Moreover, MAFA had no role in the disease except through the haplotype with GOAT polymorphism.
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埃及人群中与 2 型糖尿病有关的三种单核苷酸多态性的遗传关联研究
糖尿病是一种环境因素与遗传因素相互作用的疾病。本研究旨在探讨埃及社会中的三种单核苷酸多态性,以确定与 2 型糖尿病相关的单核苷酸多态性。所研究的单核苷酸多态性(GOAT 中的 rs10096097、CREB1 中的 rs6740584 和 MAFA 中的 rs62521874)通过对病例(n = 98)和无关的健康受试者(n = 82)进行基因分型来检验。使用显性、隐性、基因型、等位基因和 Cochran-Armitage 趋势模型检查了相关性。通过比较糖尿病患者和对照组,除隐性模型外,所有使用的模型都表明 rs6740584 与 2 型糖尿病有关。在基因型关联、Cochran-Armitage 趋势检验和隐性模型中,Rs10096097 与 2 型糖尿病有关,而其他模型则无关。在所有模型中,Rs62521874 都与 2 型糖尿病无关。此外,由于 rs10096097 和 rs62521874 这两个单核苷酸多态性位于同一染色体上,因此进行了单倍型关联研究。单倍型模式 rs10096097:G-rs62521874:A 被确定为埃及社区 2 型糖尿病易感性的生物标志物。GOAT 和 CREB1 多态性显示了对 2 型糖尿病的易感性。此外,除了通过与 GOAT 多态性的单倍型外,MAFA 对该疾病没有影响。
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来源期刊
Egyptian Journal of Medical Human Genetics
Egyptian Journal of Medical Human Genetics Medicine-Genetics (clinical)
CiteScore
2.20
自引率
7.70%
发文量
150
审稿时长
18 weeks
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