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

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机构: [1]Department of Dermatology, First Affiliated Hospital of Kunming Medical University, and Institute of Dermatology & Venereology of Yunnan province,Kunming 650032, China [2]Laboratory for Conservation and Utilization of Bio-Resources & Key Laboratory for Microbial Resources of the Ministry ofEducation, Yunnan University, Kunming 650091, China [3]State Key Laboratory of Genetic Resources and Evolution, and Yunnan Laboratory of MolecularBiology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China [4]Institute of Dermatology andDepartment of Dermatology at No.1 Hospital, Anhui Medical University, Hefei 230032, China [5]Key Laboratory of Dermatology (Anhui Medical University),Ministry of Education, Hefei 230032, China [6]Department of Dermatology, the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510000, China [7]Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, China [8]Department of Dermatology, Southwest Hospital,Third Military Medical University, Chongqing 400038, China [9]Fuzhou Dermatosis Prevention Hospital, Fuzhou 350025, China [10]Department ofDermatology, Kunming Medical University Affiliated Hospital Qujing (Qujing First People’s Hospital), Qujing 655000, China [11]Department ofDermatopathology, Shanghai Dermatology Hospital, Shanghai 200443, China [12]Department of Dermatology, the First Affiliated Hospital of XiamenUniversity & the First Hospital of Xiamen, Xiamen 361003, China [13]Department of Dermatology, Second Xiangya Hospital, Central South University,Changsha 410000, China [14]Institute of Dermatology, Peking Union Medical College and Chinese Academy of Medical Sciences, Nanjing 210000, China [15]Department of Dermatology, West China Hospital of Sichuan University, Chengdu 610000, China [16]Department of Dermatology, Wuhan No.1 Hospital,Wuhan 430000, China [17]Department of Dermatology, First Affiliated Hospital of Baotou Medical College, Baotou 014000, China [18]Department ofDermatology, Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710000, China [19]Department of Dermatology, Qilu Hospital of ShandongUniversity, Jinan 250000, China [20]Department of Dermatology, China-Japan Friendship hospital, Beijing 100000, China [21]Department of Dermatology, theFirst Affiliated Hospital of Chongqing Medical University, Chongqing 404100, China [22]Winona medical cosmetic center, Kunming 650000, China
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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 x 10(-9) and rs1060573, Pcombined 1.28 x 10(-8)) and 1q24.2 (SELL, rs7531806, P-combined 1.20 x 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.

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出版当年[2014]版:
大类 | 2 区 综合性期刊
小类 | 2 区 综合性期刊
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大类 | 1 区 综合性期刊
小类 | 1 区 综合性期刊
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出版当年[2013]版:
Q1 MULTIDISCIPLINARY SCIENCES
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Q1 MULTIDISCIPLINARY SCIENCES

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第一作者机构: [1]Department of Dermatology, First Affiliated Hospital of Kunming Medical University, and Institute of Dermatology & Venereology of Yunnan province,Kunming 650032, China
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