Department of Twin Research and Genetic Epidemiology, King's College London, London, SE1 7EH, UK.
QIMR Berghofer Medical Research Institute, Brisbane, 4029, Australia.
Nat Commun. 2018 May 8;9(1):1684. doi: 10.1038/s41467-018-04086-y.
The skin's tendency to sunburn rather than tan is a major risk factor for skin cancer. Here we report a large genome-wide association study of ease of skin tanning in 176,678 subjects of European ancestry. We identify significant association with tanning ability at 20 loci. We confirm previously identified associations at six of these loci, and report 14 novel loci, of which ten have never been associated with pigmentation-related phenotypes. Our results also suggest that variants at the AHR/AGR3 locus, previously associated with cutaneous malignant melanoma the underlying mechanism of which is poorly understood, might act on disease risk through modulation of tanning ability.
皮肤容易晒伤而非晒黑的倾向是皮肤癌的一个主要危险因素。在这里，我们报告了一项针对 176688 名欧洲血统个体的皮肤晒黑容易程度的大型全基因组关联研究。我们在 20 个位点鉴定出与晒黑能力显著相关的位点。我们确认了其中 6 个位点的先前已确定的关联，并报告了 14 个新的位点，其中 10 个位点从未与与色素沉着相关的表型相关联。我们的研究结果还表明，先前与皮肤恶性黑色素瘤相关的 AHR/AGR3 基因座的变异，其潜在机制尚不清楚，可能通过调节晒黑能力对疾病风险产生影响。
