title: Association study confirmed susceptibility loci with keloid in the Chinese Han population.
abstract: Keloid is benign fibroproliferative dermal tumors with unknown etiology. Recently, a genome-wide association study (GWAS) in Japanese population has identified 3 susceptibility loci (rs873549 at 1q41, rs940187 and rs1511412 at 3q22.3, rs8032158 at 15p21.3) for keloid. In order to examine whether these susceptibility loci are associated with keloid in the Chinese Han population, twelve previously reported SNPs were selected for replication in 714 cases and 2,944 controls by using Sequenom MassArray system. We found three SNPs in two regions showed significant association with keloid in the Chinese Han population: 1q41 (rs873549, P = 3.03×10(-33), OR = 2.05, 95% CI: 1.82-2.31 and rs1442440, P = 9.85×10(-18), OR = 0.56, 95% CI: 0.49-0.64, respectively) and 15q21.3 (rs2271289 located in NEDD4, P = 1.02×10(-11), OR = 0.66, 95% CI: 0.58-0.74). We also detected one risk haplotype AG (P = 1.36×10(-31), OR = 2.02) and two protective haplotypes of GA and AA (GA, P = 1.94×10(-19), OR = 0.53, AA, P = 0.00043, OR = 0.78, respectively) from the two SNPs (rs873549 and rs1442440). Our study confirmed two previously reported loci 1q41 and 15q21.3 for keloid in the Chinese Han population, which suggested the common genetic factor predisposing to the development of keloid shared by the Chinese Han and Japanese populations.
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Zhu
authors.forename: Baoyu
authors.initials: B
authors.lastname: Wu
authors.forename: Ping
authors.initials: P
authors.lastname: Li
authors.forename: Jianbo
authors.initials: J
authors.lastname: Wang
authors.forename: Huayang
authors.initials: H
authors.lastname: Tang
authors.forename: Ye
authors.initials: Y
authors.lastname: Liu
authors.forename: Xianbo
authors.initials: X
authors.lastname: Zuo
authors.forename: Hui
authors.initials: H
authors.lastname: Cheng
authors.forename: Yantao
authors.initials: Y
authors.lastname: Ding
authors.forename: Wen
authors.initials: W
authors.lastname: Wang
authors.forename: Yujuan
authors.initials: Y
authors.lastname: Zhai
authors.forename: Fangfang
authors.initials: F
authors.lastname: Qian
authors.forename: Wenju
authors.initials: W
authors.lastname: Wang
authors.forename: Xiangfeng
authors.initials: X
authors.lastname: Yuan
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Weiwei
authors.initials: W
authors.lastname: Ha
authors.forename: Junsheng
authors.initials: J
authors.lastname: Hou
authors.forename: Fusheng
authors.initials: F
authors.lastname: Zhou
authors.forename: Yin
authors.initials: Y
authors.lastname: Wang
authors.forename: Jinping
authors.initials: J
authors.lastname: Gao
authors.forename: Yujun
authors.initials: Y
authors.lastname: Sheng
authors.forename: Liangdan
authors.initials: L
authors.lastname: Sun
authors.forename: Jianjun
authors.initials: J
authors.lastname: Liu
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology* / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D056426:Genetic Loci / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007627:Keloid / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics