全基因组关联研究鉴定出 143 个与 25 羟维生素 D 浓度相关的位点。
Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.
机构信息
Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia.
Queensland Brain Institute, The University of Queensland, Brisbane, QLD, Australia.
出版信息
Nat Commun. 2020 Apr 2;11(1):1647. doi: 10.1038/s41467-020-15421-7.
Vitamin D deficiency is a candidate risk factor for a range of adverse health outcomes. In a genome-wide association study of 25 hydroxyvitamin D (25OHD) concentration in 417,580 Europeans we identify 143 independent loci in 112 1-Mb regions, providing insights into the physiology of vitamin D and implicating genes involved in lipid and lipoprotein metabolism, dermal tissue properties, and the sulphonation and glucuronidation of 25OHD. Mendelian randomization models find no robust evidence that 25OHD concentration has causal effects on candidate phenotypes (e.g. BMI, psychiatric disorders), but many phenotypes have (direct or indirect) causal effects on 25OHD concentration, clarifying the epidemiological relationship between 25OHD status and the health outcomes examined in this study.
维生素 D 缺乏是一系列不良健康结果的候选风险因素。在一项对 417580 名欧洲人 25 羟维生素 D（25OHD）浓度的全基因组关联研究中，我们在 112 个 1-Mb 区域中鉴定出 143 个独立的基因座，深入了解了维生素 D 的生理学，并暗示了涉及脂质和脂蛋白代谢、皮肤组织特性以及 25OHD 的磺化和葡萄糖醛酸化的基因。孟德尔随机化模型没有发现强有力的证据表明 25OHD 浓度对候选表型（如 BMI、精神障碍）有因果影响，但许多表型对 25OHD 浓度有（直接或间接）因果影响，这阐明了本研究中 25OHD 状态与健康结果之间的流行病学关系。
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