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

• DOI: 10.1038/ncomms3870
• Publication Date: 2014-01-07T16:00:18Z
• Authors: Li He; Wen-Juan Wu; Jian-Kang Yang; Hui Cheng; Xian-Bo Zuo; Wei Lai; Tian-Wen Gao; Cui-Lin Ma; Na Luo; Jian-Qing Huang; Feng-Yan Lu; Ye-Qiang Liu; Yi-Jin Huang; Qian-Jin Lu; Huai-Liang Zhang; Lin Wang; Wei-Zhen Wang; Mei-Mei Wang; Sheng-Xiang Xiao; Qing Sun; Chun-Yang Li; Yan-Ping Bai; Hui Li; Zhan-Chao Zhou; Fu-Sheng Zhou; Gang Chen; Bo Liang; Jue Qi; Xiao-Yan Yang; Ting Yang; Xing Zheng; Liang-Dan Sun; Xue-Jun Zhang; Ya-Ping Zhang
• Keywords: Adult; Male; Adolescent; Polymorphism, Single Nucleotide; FACIAL ACNE; Cohort Studies; Young Adult; 03 medical and health sciences; 0302 clinical medicine; Asian People; Acne Vulgaris; Humans; Genetic Predisposition to Disease; L-Selectin; ENDOTHELIAL SELECTINS; VULGARIS; ASSOCIATION; GENE; POLYMORPHISM; PREVALENCE; 3. Good health; DNA-Binding Proteins; DNA-DAMAGE; L-SELECTIN; Female; CHINESE

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.