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The role of genetics and epigenetics in the pathogenesis of gestational diabetes mellitus
Annals of Human Genetics ( IF 1.9 ) Pub Date : 2019-10-01 , DOI: 10.1111/ahg.12356
Jakub Rosik 1 , Bartosz Szostak 1 , Filip Machaj 1 , Andrzej Pawlik 1
Affiliation  

Diabetes mellitus (DM) is a heterogeneous group of disorders whose common trait is chronic hyperglycemia. Gestational diabetes mellitus (GDM) is one of the subtypes of DM that manifests during pregnancy. It is believed that 2%–5% of pregnancies worldwide are complicated with GDM, with the prevalence having significantly increased over the last decade. While the pathogenesis of the disease remains largely unknown, GDM is believed to be a result of interactions between genetic, epigenetic, and environmental factors. Linkage and association studies, including those that are genome‐wide, have allowed us to identify complex genetic and epigenetic mechanisms that lead to the development of GDM. Multiple common variants in candidate genes such as potassium inwardly rectifying channel subfamily J, member 11 (KCNJ11), glucokinase (GCK), or hepatocyte nuclear factor 1α (HNF1A) have been found to increase the disease risk. In this review, we provide a detailed overview of the current knowledge concerning the influence of genetics and epigenetics on the development of GDM.

中文翻译:

遗传学和表观遗传学在妊娠期糖尿病发病机制中的作用

糖尿病 (DM) 是一组异质性疾病,其共同特征是慢性高血糖。妊娠期糖尿病 (GDM) 是妊娠期间出现的 DM 亚型之一。据信,全球 2%–5% 的妊娠合并 GDM,并且在过去十年中患病率显着增加。虽然该疾病的发病机制在很大程度上仍然未知,但 GDM 被认为是遗传、表观遗传和环境因素相互作用的结果。连锁和关联研究,包括全基因组研究,使我们能够确定导致 GDM 发展的复杂遗传和表观遗传机制。候选基因中的多种常见变异,例如钾向内整流通道亚家族 J、成员 11 (KCNJ11)、葡萄糖激酶 (GCK)、或肝细胞核因子 1α (HNF1A) 已被发现会增加疾病风险。在这篇综述中,我们详细概述了有关遗传学和表观遗传学对 GDM 发展的影响的当前知识。
更新日期:2019-10-01
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