全基因组关联研究
痤疮
遗传学
遗传关联
生物
孟德尔遗传
单核苷酸多态性
遗传建筑学
医学
数量性状位点
基因
基因型
作者
Brittany Mitchell,Jake Saklatvala,Nick Dand,Fiona A. Hagenbeek,Xin Li,Josine L. Min,Laurent F. Thomas,Meike Bartels,Jouke Jan Hottenga,Michelle K. Lupton,Dorret I. Boomsma,Xianjun Dong,Kristian Hveem,Mari Løset,Nicholas G. Martin,Jonathan Barker,Jiali Han,Catherine Smith,Miguel E. Rentería,Michael A. Simpson
标识
DOI:10.1038/s41467-022-28252-5
摘要
Acne vulgaris is a highly heritable skin disorder that primarily impacts facial skin. Severely inflamed lesions may leave permanent scars that have been associated with long-term psychosocial consequences. Here, we perform a GWAS meta-analysis comprising 20,165 individuals with acne from nine independent European ancestry cohorts. We identify 29 novel genome-wide significant loci and replicate 14 of the 17 previously identified risk loci, bringing the total number of reported acne risk loci to 46. Using fine-mapping and eQTL colocalisation approaches, we identify putative causal genes at several acne susceptibility loci that have previously been implicated in Mendelian hair and skin disorders, including pustular psoriasis. We identify shared genetic aetiology between acne, hormone levels, hormone-sensitive cancers and psychiatric traits. Finally, we show that a polygenic risk score calculated from our results explains up to 5.6% of the variance in acne liability in an independent cohort.
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