Division of Gastroenterology and Hepatology, University of Michigan Health System, Ann Arbor, MI, USA.
Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA.
Nat Genet. 2024 Feb;56(2):212-221. doi: 10.1038/s41588-023-01625-2. Epub 2024 Jan 10.
Insulin resistance (IR) is a well-established risk factor for metabolic disease. The ratio of triglycerides to high-density lipoprotein cholesterol (TG:HDL-C) is a surrogate marker of IR. We conducted a genome-wide association study of the TG:HDL-C ratio in 402,398 Europeans within the UK Biobank. We identified 369 independent SNPs, of which 114 had a false discovery rate-adjusted P value < 0.05 in other genome-wide studies of IR making them high-confidence IR-associated loci. Seventy-two of these 114 loci have not been previously associated with IR. These 114 loci cluster into five groups upon phenome-wide analysis and are enriched for candidate genes important in insulin signaling, adipocyte physiology and protein metabolism. We created a polygenic-risk score from the high-confidence IR-associated loci using 51,550 European individuals in the Michigan Genomics Initiative. We identified associations with diabetes, hyperglyceridemia, hypertension, nonalcoholic fatty liver disease and ischemic heart disease. Collectively, this study provides insight into the genes, pathways, tissues and subtypes critical in IR.
胰岛素抵抗(IR)是代谢疾病的一个既定风险因素。甘油三酯与高密度脂蛋白胆固醇的比值(TG:HDL-C)是 IR 的替代标志物。我们在 UK Biobank 中对 402,398 名欧洲人进行了 TG:HDL-C 比值的全基因组关联研究。我们鉴定了 369 个独立的 SNP,其中 114 个在其他 IR 的全基因组研究中具有经错误发现率调整的 P 值<0.05,这使其成为高可信度的与 IR 相关的基因座。这 114 个基因座中有 72 个以前与 IR 无关。这些 114 个基因座在表型全基因组分析中聚类成五个组,并且富集了在胰岛素信号、脂肪细胞生理学和蛋白质代谢中重要的候选基因。我们使用密歇根基因组倡议中的 51,550 名欧洲个体,从高可信度的与 IR 相关的基因座创建了一个多基因风险评分。我们鉴定了与糖尿病、高甘油血症、高血压、非酒精性脂肪肝和缺血性心脏病的关联。总的来说,这项研究提供了对 IR 中关键基因、途径、组织和亚型的深入了解。