Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
School of Biomedical Sciences, Faculty of Health, Queensland University of Technology (QUT), Brisbane, Australia.
Nat Commun. 2022 Feb 7;13(1):702. doi: 10.1038/s41467-022-28252-5.
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.
寻常痤疮是一种高度遗传性皮肤疾病,主要影响面部皮肤。严重发炎的病变可能会留下永久性疤痕,这些疤痕与长期的社会心理后果有关。在这里,我们对来自 9 个独立欧洲血统队列的 20165 名痤疮患者进行了 GWAS 荟萃分析。我们确定了 29 个新的全基因组显著位点,并复制了 17 个先前确定的风险位点中的 14 个,使报告的痤疮风险位点总数达到 46 个。使用精细映射和 eQTL 共定位方法,我们在几个痤疮易感性位点确定了潜在的因果基因,这些基因先前与孟德尔毛发和皮肤疾病有关,包括脓疱性银屑病。我们发现痤疮、激素水平、激素敏感性癌症和精神特征之间存在共同的遗传病因。最后,我们表明,从我们的结果计算出的多基因风险评分可以解释在一个独立队列中痤疮易感性的 5.6%的变异。