Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne

• Published in: Nature communications Vol. 5; no. 1; p. 2870
• Main Authors: He, Li, Wu, Wen-Juan, Yang, Jian-Kang, Cheng, Hui, Zuo, Xian-Bo, Lai, Wei, Gao, Tian-Wen, Ma, Cui-Lin, Luo, Na, Huang, Jian-Qing, Lu, Feng-Yan, Liu, Ye-Qiang, Huang, Yi-Jin, Lu, Qian-Jin, Zhang, Huai-Liang, Wang, Lin, Wang, Wei-Zhen, Wang, Mei-Mei, Xiao, Sheng-Xiang, Sun, Qing, Li, Chun-Yang, Bai, Yan-Ping, Li, Hui, Zhou, Zhan-Chao, Zhou, Fu-Sheng, Chen, Gang, Liang, Bo, Qi, Jue, Yang, Xiao-Yan, Yang, Ting, Zheng, Xing, Sun, Liang-Dan, Zhang, Xue-Jun, Zhang, Ya-Ping
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.01.2014
• Subjects: Acne; Acne Vulgaris - genetics; Adolescent; Adult; Androgens; Asian Continental Ancestry Group; Cohort Studies; Cysts; Cytochrome; Dermatology; DNA-Binding Proteins - genetics; Female; Genes; Genetic Predisposition to Disease; Genomes; Humans; L-Selectin; Laboratories; Male; Metabolism; Polymorphism, Single Nucleotide; Polypeptides; Regression analysis; Scars; Tumor necrosis factor-TNF; Young Adult; China
• ISSN: 2041-1723; 2041-1723
• DOI: 10.1038/ncomms3870

Severe acne is a chronic inflammatory skin disorder characterized by widespread inflammatory lesions including nodules, cysts and potential scarring. Here we perform the first genome-wide association study of severe acne in a Chinese Han population comprising 1,056 cases and 1,056 controls using the Illumina HumanOmniZhongHua-8 BeadChip. In an independent cohort of 1,860 cases and 3,660 controls of Chinese Han, we replicate 101 SNPs of which 3 showed consistent association. We identify two new susceptibility loci at 11p11.2 (DDB2, rs747650, P(combined)=4.41 × 10⁻⁹ and rs1060573, P(combined)=1.28 × 10⁻⁸) and 1q24.2 (SELL, rs7531806, P(combined)=1.20 × 10⁻⁸) that are involved in androgen metabolism, inflammation processes and scar formation in severe acne. These results point to new genetic susceptibility factors and suggest several new biological pathways related to severe acne.