Association Study Confirmed Susceptibility Loci with Keloid in the Chinese Han Population.docVIP

AssociationStudyConfirmedSusceptibilityLociwith KeloidintheChineseHanPopulation FeiZhu1,2,3,4.,BaoyuWu1,2,3.,PingLi1,2,3.,JianboWang1,2,3,HuayangTang1,2,3,YeLiu4,XianboZuo2,3, HuiCheng1,2,3,YantaoDing1,2,3,WenWang1,2,3,YujuanZhai1,2,3,FangfangQian1,2,3,WenjuWang1,2,3 XiangfengYuan1,2,3,JingWang1,2,3,WeiweiHa1,2,3,JunshengHou1,2,3,FushengZhou2,3,YinWang4, JinpingGao1,2,3,YujunSheng1,2,3,LiangdanSun1,2,3,JianjunLiu2,3*,SenYang1,2,3*,XuejunZhang1,2,3 , 1InstituteofDermatologyandDepartmentofDermatology,No.1Hospital,AnhuiMedicalUniversity,Hefei,Anhui,China,2KeyLaboratoryofDermatology,AnhuiMedical University, Ministry of Education, China, Hefei, Anhui, China, 3State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China, 4DepartmentofPlasticSurgery,No.1Hospital,AnhuiMedicalUniversity,Hefei,Anhui,China 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 ChineseHanpopulation,twelvepreviouslyreportedSNPswereselectedforreplicationin714casesand2,944controlsby usingSequenomMassArraysystem.WefoundthreeSNPsintworegionsshowedsignificantassociationwithkeloidinthe Chinese Han population: 1q41 (rs873549, P=3 OR=2.05, 95% CI: 1.82–2.31 and rs1442440, P=9 OR=0.56, 95% CI: 0.49–0.64, respectively) and 15q21.3 (rs2271289 located in NEDD4, P=1 OR=0.66, 95% CI: 0.58–0.74).WealsodetectedoneriskhaplotypeAG(P=1.36610 ,OR=2.02)andtwoprotectivehaplotypesofGAandAA (GA,P=1OR=0.53,AA,P=0.00043,OR=0.78,respectively)fromthetwoSNPs(rs873549andrs1442440).Our studyconfirmedtwopreviouslyreportedloci1q41and15q21.3forkeloidintheChineseHanpopulation,whichsuggested the common genetic factor predisposing to the devel