Association Study of Serotonin Transporter SLC6A4 Gene with Chinese Han Irritable Bowel Syndrome.docVIP

AssociationStudyofSerotoninTransporterSLC6A4Gene withChineseHanIrritableBowelSyndrome JingYuan1.,ChuanYuanKang2.,MinWang3,QiangWang3,PeiKaiLi1,HuaLiu4,YuHou1,PingSu1, FanYang1,YuJunWei1,JianZhongYang1* 1ClinicalPsychologyDepartment,No.2People’sHospitalofYunnanProvince,Kunming,China,2PsychiatryDepartment,TheFirstAffiliatedHospitalofKunmingMedical University,Kunming,China,3GastroenterologyDepartment,No.2People’sHospitalofYunnanProvince,Kunming,China,4DepartmentofLaboratory,TheFirstAffiliated HospitalofKunmingMedicalUniversity,Kunming,China Abstract Objective: Irritable bowel syndrome (IBS) is a common clinical gastrointestinal dysfunction disorders. 5-sertonon (5- hydroxytryptamine,5-HT)isaveryimportantneurotransmitter,whichisinvolvedingastrointestinalmotionandsensation. Solutecarrierfamily6member4(SLC6A4)geneencodeserotonintransporter(SERT)whichfunctionistorapidlyreuptake themostof5-HT.Therefore,itisneededtoexploretheassociationbetweenSLC6A4genepolymorphismsandIBS. Methods:119patientsand238healthycontrolswereadministratedtodetecttheSLC6A4genepolymorphismsincluding5- HT-transporter-gene-linkedpolymorphicregion(5-HTTLPR),variablenumberoftandemrepeats(VNTRs)andthreeselected tag Single Nucleotide Polymorphisms (SNPs) rs1042173, rs3794808, rs2020936 by using polymerase chain reaction (PCR) andTaqManHSNPGenotyping. Results:Thereweresignificantdifferencefor5-HTTLPRbetweenIBSandcontrolgroups(X2=106.168,P,0.0001).Incontrol group,genotypesweremainlyL/L(58.4%),however,thegenotypesinIBSwereS/S(37.8%).Thesignificantdifferencewas showninD-IBSsubjectswhencomparedtothecontrols(X2=50.850,P,0.0001)for5-HTTLPR.ForSTin2VNTR,rs1042173, rs3794808,andrs2020936polymorphisms,therewerenoanysignificantdifferencesbetweenIBSandcontrolgroups.There werenostatisticalsignificantlyhaplotypesfor5-HTTLPR,VNTRsandthethreeSNPsbetweenIBSandcontrols. Conclusion:TheSallelein5-HTTLPRwasasusceptibleallelewithChineseHanIBS,butotherassociationsofVNTRs,three selectedTagSNPsandpositivehaplotypewithIBSwerenotfou