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.
Highlights
Keloid is a benign, proliferative dermal collagen growth that represents a pathologic wound-healing response to skin injury
We aim to investigate association pattern of these 12 previously reported SNPs for keloid in the Chinese Han population
We carried out an association study and confirmed the association of three previously reported SNPs within two susceptibility loci 1q41 and 15p21.3 for keloid in the Chinese Han population
Summary
Proliferative dermal collagen growth that represents a pathologic wound-healing response to skin injury. It is characterized by an excessive accumulation of extracellular matrix and especially by overabundant collagen formation, which has escaped the boundaries of the original wound to invade the surrounding normal skin and causes aesthetically displeasing and functionally disabling, even leading to the patients to suffer from both physical and psychological distress [1,2,3,4,5]. Prevalence of keloid varies among different populations, it affects a higher proportion of people of AfricanAmericans and Asians, especially in dark-skinned individuals [6,7,8]. Keloid is more common in ethnicities with darker pigmented skins; the familial heritability and prevalence in twins support the concept of the genetic predisposition to keloid
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