Diabetes is one of the fastest growing diseases worldwide, projected to affect 693 million adults by 2045. Devastating macrovascular complications (cardiovascular disease) and microvascular complications (such as diabetic kidney disease, diabetic retinopathy and neuropathy) lead to increased mortality, blindness, kidney failure and an overall decreased quality of life in individuals with diabetes. Clinical risk factors and glycaemic control alone cannot predict the development of vascular complications; numerous genetic studies have demonstrated a clear genetic component to both diabetes and its complications. Early research aimed at identifying genetic determinants of diabetes complications relied on familial linkage analysis suited to strong-effect loci, candidate gene studies prone to false positives, and underpowered genome-wide association studies limited by sample size. The explosion of new genomic datasets, both in terms of biobanks and aggregation of worldwide cohorts, has more than doubled the number of genetic discoveries for both diabetes and diabetes complications. We focus herein on genetic discoveries for diabetes and diabetes complications, empowered primarily through genome-wide association studies, and emphasize the gaps in research for taking genomic discovery to the next level.

中文翻译：

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糖尿病和糖尿病并发症的遗传学。

糖尿病是全球增长最快的疾病之一，预计到 2045 年将影响 6.93 亿成年人。破坏性的大血管并发症（心血管疾病）和微血管并发症（如糖尿病肾病、糖尿病视网膜病变和神经病变）导致死亡率增加、失明、肾衰竭以及糖尿病患者的整体生活质量下降。仅靠临床危险因素和血糖控制不能预测血管并发症的发展；许多基因研究表明，糖尿病及其并发症都有明显的遗传成分。旨在确定糖尿病并发症遗传决定因素的早期研究依赖于适合强效应位点的家族连锁分析，候选基因研究容易出现假阳性，以及受样本量限制的动力不足的全基因组关联研究。新基因组数据集的爆炸式增长，无论是在生物库还是全球队列的聚集方面，都使糖尿病和糖尿病并发症的基因发现数量增加了一倍以上。我们在此专注于糖尿病和糖尿病并发症的基因发现，主要通过全基因组关联研究授权，并强调将基因组发现提升到新水平的研究差距。