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Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.
Nature Communications ( IF 16.6 ) Pub Date : 2020-04-02 , DOI: 10.1038/s41467-020-15421-7
Joana A Revez 1 , Tian Lin 1 , Zhen Qiao 1 , Angli Xue 1 , Yan Holtz 2 , Zhihong Zhu 1 , Jian Zeng 1 , Huanwei Wang 1 , Julia Sidorenko 1 , Kathryn E Kemper 1 , Anna A E Vinkhuyzen 1 , Julanne Frater 2 , Darryl Eyles 2, 3 , Thomas H J Burne 2, 3 , Brittany Mitchell 4, 5 , Nicholas G Martin 4 , Gu Zhu 4 , Peter M Visscher 1 , Jian Yang 1, 6 , Naomi R Wray 1, 2 , John J McGrath 2, 3, 7
Affiliation  

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.



中文翻译:

全基因组关联研究确定了与25个羟基维生素D浓度相关的143个基因座。

维生素D缺乏症是一系列不利健康结果的候选危险因素。在417,580个欧洲人中25个羟基维生素D(25OHD)浓度的全基因组关联研究中,我们在112个1-Mb地区确定了143个独立基因座,从而深入了解了维生素D的生理学以及与脂质和脂蛋白代谢,皮肤组织有关的基因性质,以及25OHD的磺化和葡糖醛酸化。孟德尔随机模型没有强有力的证据表明25OHD浓度对候选表型有因果关系(例如BMI,精神病),但是许多表型对25OHD浓度有(直接或间接)因果关系,从而阐明了25OHD状况与健康结果之间的流行病学关系在这项研究中进行了检查。

更新日期:2020-04-24
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