Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Metab Syndr Relat Disord. 2019 Dec;17(10):505-511. doi: 10.1089/met.2019.0070. Epub 2019 Oct 7.
The metabolic syndrome (MetS) is a description of a clustering of cardiometabolic risk factors in the same individual. Previous genome-wide association studies (GWASs) have identified 29 independent genetic loci linked to MetS as a binary trait. This study used data from UK biobank to search for additional loci. Using data from 291,107 individuals in the UK biobank, a GWAS was performed versus the binary trait MetS (harmonized NCEP criteria). In a GWAS of MetS (binary) we found 93 independent loci with < 5 × 10, of which 80 were not identified in previous GWASs of MetS. However, the majority of those loci have previously been associated with one or more of the five MetS components. Of particular interest are the genes being related to MetS (binary) in this study, but not to any of the MetS components in past studies, such as and as well as the two loci that have been associated with all five MetS components in past studies, and A pathway analysis of the 93 independent loci showed the immune system, transportation of small molecules, and metabolism to be enriched. This GWAS of the MetS in UK biobank identified several new loci being associated with MetS. Most of those have previously been found to be associated with different components of MetS, but several loci were found not previously linked to cardiometabolic disease.
代谢综合征（MetS）是一种个体中心血管代谢危险因素聚集的描述。先前的全基因组关联研究（GWAS）已经确定了 29 个与 MetS 作为二元特征相关的独立遗传位点。本研究利用英国生物库的数据来寻找其他的位点。利用英国生物库 291107 名个体的数据，针对 MetS（NCEP 标准统一）这一二元特征进行了 GWAS。在针对 MetS（二元）的 GWAS 中，我们发现了 93 个独立的位点，其 P 值均小于 5e-8，其中 80 个位点未在前瞻性的 MetS GWAS 中被发现。然而，这些位点中的大多数之前已经与 MetS 的一个或多个组成部分相关。特别有趣的是，在这项研究中与 MetS（二元）相关但与之前的 MetS 成分研究无关的基因，如 和 ，以及之前与所有五个 MetS 成分相关的两个位点 和 。对 93 个独立位点的通路分析表明，免疫系统、小分子运输和代谢过程是富集的。这项英国生物库代谢综合征的 GWAS 确定了几个与代谢综合征相关的新位点。其中大多数之前已经发现与代谢综合征的不同成分有关，但有几个位点以前与心血管代谢疾病无关。
