title: Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne.
abstract: 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.
authors.affiliation: 1] Department of Dermatology, First Affiliated Hospital of Kunming Medical University, and Institute of Dermatology & Venereology of Yunnan province, Kunming 650032, China [2].
authors.forename: Li
authors.initials: L
authors.lastname: He
authors.affiliation: 1] Department of Dermatology, First Affiliated Hospital of Kunming Medical University, and Institute of Dermatology & Venereology of Yunnan province, Kunming 650032, China [2].
authors.forename: Wen-Juan
authors.initials: WJ
authors.lastname: Wu
authors.affiliation: 1] Laboratory for Conservation and Utilization of Bio-Resources & Key Laboratory for Microbial Resources of the Ministry of Education, Yunnan University, Kunming 650091, China [2] State Key Laboratory of Genetic Resources and Evolution, and Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China [3].
authors.forename: Jian-Kang
authors.initials: JK
authors.lastname: Yang
authors.affiliation: 1] Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei 230032, China [2] Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei 230032, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Cheng
authors.affiliation: 1] Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei 230032, China [2] Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei 230032, China.
authors.forename: Xian-Bo
authors.initials: XB
authors.lastname: Zuo
authors.affiliation: Department of Dermatology, the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510000, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Lai
authors.affiliation: Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, China.
authors.forename: Tian-Wen
authors.initials: TW
authors.lastname: Gao
authors.affiliation: Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, China.
authors.forename: Cui-Lin
authors.initials: CL
authors.lastname: Ma
authors.affiliation: Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing 400038, China.
authors.forename: Na
authors.initials: N
authors.lastname: Luo
authors.affiliation: Fuzhou Dermatosis Prevention Hospital, Fuzhou 350025, China.
authors.forename: Jian-Qing
authors.initials: JQ
authors.lastname: Huang
authors.affiliation: Department of Dermatology, Kunming Medical University Affiliated Hospital Qujing (Qujing First People's Hospital), Qujing 655000, China.
authors.forename: Feng-Yan
authors.initials: FY
authors.lastname: Lu
authors.affiliation: Department of Dermatopathology, Shanghai Dermatology Hospital, Shanghai 200443, China.
authors.forename: Ye-Qiang
authors.initials: YQ
authors.lastname: Liu
authors.affiliation: Department of Dermatology, the First Affiliated Hospital of Xiamen University & the First Hospital of Xiamen, Xiamen 361003, China.
authors.forename: Yi-Jin
authors.initials: YJ
authors.lastname: Huang
authors.affiliation: Department of Dermatology, Second Xiangya Hospital, Central South University, Changsha 410000, China.
authors.forename: Qian-Jin
authors.initials: QJ
authors.lastname: Lu
authors.affiliation: Institute of Dermatology, Peking Union Medical College and Chinese Academy of Medical Sciences, Nanjing 210000, China.
authors.forename: Huai-Liang
authors.initials: HL
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, West China Hospital of Sichuan University, Chengdu 610000, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Wuhan No.1 Hospital, Wuhan 430000, China.
authors.forename: Wei-Zhen
authors.initials: WZ
authors.lastname: Wang
authors.affiliation: Department of Dermatology, First Affiliated Hospital of Baotou Medical College, Baotou 014000, China.
authors.forename: Mei-Mei
authors.initials: MM
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710000, China.
authors.forename: Sheng-Xiang
authors.initials: SX
authors.lastname: Xiao
authors.affiliation: Department of Dermatology, Qilu Hospital of Shandong University, Jinan 250000, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Sun
authors.affiliation: Department of Dermatology, Qilu Hospital of Shandong University, Jinan 250000, China.
authors.forename: Chun-Yang
authors.initials: CY
authors.lastname: Li
authors.affiliation: Department of Dermatology, China-Japan Friendship hospital, Beijing 100000, China.
authors.forename: Yan-Ping
authors.initials: YP
authors.lastname: Bai
authors.affiliation: Department of Dermatology, the First Affiliated Hospital of Chongqing Medical University, Chongqing 404100, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.affiliation: Winona medical cosmetic center, Kunming 650000, China.
authors.forename: Zhan-Chao
authors.initials: ZC
authors.lastname: Zhou
authors.affiliation: 1] Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei 230032, China [2] Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei 230032, China.
authors.forename: Fu-Sheng
authors.initials: FS
authors.lastname: Zhou
authors.affiliation: 1] Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei 230032, China [2] Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei 230032, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.affiliation: 1] Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei 230032, China [2] Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei 230032, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Liang
authors.affiliation: Department of Dermatology, First Affiliated Hospital of Kunming Medical University, and Institute of Dermatology & Venereology of Yunnan province, Kunming 650032, China.
authors.forename: Jue
authors.initials: J
authors.lastname: Qi
authors.affiliation: Department of Dermatology, First Affiliated Hospital of Kunming Medical University, and Institute of Dermatology & Venereology of Yunnan province, Kunming 650032, China.
authors.forename: Xiao-Yan
authors.initials: XY
authors.lastname: Yang
authors.affiliation: Department of Dermatology, First Affiliated Hospital of Kunming Medical University, and Institute of Dermatology & Venereology of Yunnan province, Kunming 650032, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Yang
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, and Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
authors.forename: Xing
authors.initials: X
authors.lastname: Zheng
authors.affiliation: 1] Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei 230032, China [2] Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei 230032, China.
authors.forename: Liang-Dan
authors.initials: LD
authors.lastname: Sun
authors.affiliation: 1] Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei 230032, China [2] Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei 230032, China.
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, and Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
authors.forename: Ya-Ping
authors.initials: YP
authors.lastname: Zhang
mesh_terms: D000152:Acne Vulgaris / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D044466:Asian People; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D019041:L-Selectin; D008297:Male; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C117669:DDB2 protein, human; D004268:DNA-Binding Proteins; C546935:SELL protein, human; D019041:L-Selectin