Wheeler Eleanor, Marenne Gaëlle, Barroso Inês
Department of Human Genetics, Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
Hum Mol Genet. 2017 Oct 1;26(R2):R172-R184. doi: 10.1093/hmg/ddx293.
Glycaemic traits such as fasting and post-challenge glucose and insulin measures, as well as glycated haemoglobin (HbA1c), are used to diagnose and monitor diabetes. These traits are risk factors for cardiovascular disease even below the diabetic threshold, and their study can additionally yield insights into the pathophysiology of type 2 diabetes. To date, a diverse set of genetic approaches have led to the discovery of over 97 loci influencing glycaemic traits. In this review, we will focus on recent advances in the genetic aetiology of glycaemic traits, and the resulting biological insights. We will provide a brief overview of results ranging from common, to low- and rare-frequency variant-trait association studies, studies leveraging the diversity across populations, and studies harnessing the power of genetic and genomic approaches to gain insights into the biological underpinnings of these traits.
血糖特征，如空腹和餐后葡萄糖及胰岛素测量值，以及糖化血红蛋白（HbA1c），用于诊断和监测糖尿病。即使在糖尿病阈值以下，这些特征也是心血管疾病的危险因素，对它们的研究还可以深入了解2型糖尿病的病理生理学。迄今为止，一系列不同的遗传方法已导致发现了97多个影响血糖特征的基因座。在本综述中，我们将重点关注血糖特征遗传病因学的最新进展以及由此产生的生物学见解。我们将简要概述从常见、低频和罕见频率变异-特征关联研究、利用不同人群多样性的研究，以及利用遗传和基因组方法的力量来深入了解这些特征生物学基础的研究结果。
