Four SNPs Loci For Keloid Correlation With Chinese Han Cohorts

Introduction Keloid is a benign, proliferative dermal collagen growth that representa pathologic wound-healing response to skin injury, which is unique to humans. It ischaracterised by an excessive accumulation of extracellular matrix and especially byoverabundant collagen formation, which has escaped the boundaries of the originalwound to invade the surrounding normal skin and causes aesthetically displeasing andfunctionally disabling, even leading to the patients to suffer from both physical andpsychological distress. keloid often occur sporadically, Although it may affects in allraces, a common high incidence usually among the African-Americans and Asians.the risk of developing keloids is approximately15times higher in dark-skinnedindividuals compared with light-skinned individuals. The etiology of keloids isuncertain. However, the genetic factors had been considered that may contributes tokeloid formation. Which is perhaps best demonstrated by their varied incidence indifferent ethnic populations, a familial history of the disease, and its prevalence intwins.Over the past two decades, the genetic studies had revealed numerous susceptibilitygenes that may be associated with keloid, such as TGF-β1, TGF-β2, TGF-β3, TGF-βeceptor (TGF-βR)I, TGF-βRII, TGF-βRIII, SMAD3, SMAD6, SMAD7, p53, NEDD4,FOXL2and human leukocyte antigen (HLA). Despite enormous efforts, the geneticpathogenesis of KL is not fully understood. Recently, a study identified four genes/lociare associated with susceptibility to keloid in Afro-Caribbeans population. However, theimportance of replication in different population should not be overlooked. With higher prevalence of KL in China and a heavier genetic load. Therefore, the aim of this studywas to determine whether these promising associated SNPs are associated with KL inChinese Han population.Objective We have performed a large scale replication study based on the foursusceptibility loci for keloid in the Japanese population. Nine SNPs from GWAS datawere selected in Chinese Han cohorts (total714cases and2944controls).To confirm thegenetic variation for susceptibility in Chinese Han cases.Methods We verified these SNPs in Chinese Han cases using Sequenom Massarraysystem. Association analyses were performed using logistic regression with gender orsample cohorts as a covariate.Results Four SNPs showing little significance in cohorts study (P>0.05) for KELOIDin all714cases and2944controls of Chinese Han.(rs1866744: OR=1.07,95%CI:0.88-1.28, P=0.2423; rs9806504: OR=0,95%CI:0, P=0.4911;rs11071932: OR=2.5,95%CI:0.86-1.08, P=0.194; rs2118610: OR=0,95%CI:0.91-1.160, P=0.4911). Rs980504、rs11071932、rs2118610were located in SMAD3gene andrs1866744was located in SMAD6gene.Conclusions We verified rs11071932、rs1866744、rs9806504and rs2118610in15q notas susceptibility loci for keloid in Chinese Han cohorts.We confirmed that rs980504、rs11071932、rs2118610which located in SMAD3and rs1866744which located inSMAD6there is not a clear correlation between keloid patients in Chinese Han cohorts.