Nature communications · 2022
Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.
СтатьяМетаанализПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Mitchell Brittany L, Saklatvala Jake R, Dand Nick, Hagenbeek Fiona A, Li Xin, Min Josine L, Thomas Laurent, Bartels Meike, Jan Hottenga Jouke, Lupton Michelle K, Boomsma Dorret I, Dong Xianjun, Hveem Kristian, Løset Mari, Martin Nicholas G, Barker Jonathan N, Han Jiali, Smith Catherine H, Rentería Miguel E, Simpson Michael A
Аннотация
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.