Genetic Polymorphisms of the TYMS Gene Are Not Associated with Congenital Cardiac Septal Defects in a Han Chinese Population 英文参考文献.docVIP

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Genetic Polymorphisms of the TYMS Gene Are Not Associated with Congenital Cardiac Septal Defects in a Han Chinese Population 英文参考文献.doc

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Genetic Polymorphisms of the TYMS Gene Are Not Associated with Congenital Cardiac Septal Defects in a Han Chinese Population 英文参考文献

GeneticPolymorphismsoftheTYMSGeneAreNot AssociatedwithCongenitalCardiacSeptalDefectsina HanChinesePopulation Jian-YuanZhao1,5.,Jing-WeiSun1.,Zhuo-YaGu1.,JueWang1,Er-LiWang1,Xue-YanYang1,BinQiao2, Wen-YuanDuan2,Guo-YingHuang3,Hong-YanWang1,4* 1TheStateKeyLaboratoryofGeneticEngineeringandMOEKeyLaboratoryofContemporaryAnthropology,SchoolofLifeSciences,FudanUniversity,Shanghai,China, 2Institute of Cardiovascular Disease General Hospital, Jinan Military Region, Jinan, China, 3Children’s Hospital Shanghai, Fudan University, Shanghai, China, 4The InstitutesofBiomedicalSciences,FudanUniversity,Shanghai,China,5InstituteofSportsScienceandTechnology,AdministrationofSportsofAnhuiProvince,Hefei,China Abstract Background: Clinical research indicates that periconceptional administration of folic acid can reduce the occurrence of congenitalcardiacseptaldefects(CCSDs).Thevitalrolesoffolateexhibitsinthreeways:theuniquemethyldonorforDNA expressionregulation,thedenovobiosynthesisofpurineandpyrimidineforDNAconstruction,andtheserumhomocysteine removal.Thymidylatesynthase(TYMS)isthesolocatalysisenzymeforthedenovosynthesisofdTMP,whichistheessential precursorofDNAbiosynthesisandrepairprocess.ToexaminetheroleofTYMSinCongenitalCardiacSeptalDefects(CCSDs) risk,weinvestigatedwhethergeneticpolymorphismsintheTYMSgeneassociatedwiththeCCSDsinaHanChinesepopulation. Method:PolymorphismsinthenoncodingregionofTYMSwereidentifiedviadirectsequencingin32unrelatedindividuals composedofhalfCCSDsandhalfcontrolsubjects.NineSNPsandtwoinsertion/deletionpolymorphismsweregenotyped fromtwoindependentcase-controlstudiesinvolvingatotalof529CCSDspatientsand876healthycontrolparticipants.The associationswereexaminedbybothsinglepolymorphismandhaplotypetestsusinglogisticregression. Result:WefoundthatTYMSpolymorphismswerenotrelatedtothealteredCCSDsrisk,andeventothechangedriskof VSDssubgroup,whentestedinbothstudiedgroupsseparatelyorincombination.Inthehaplotypeanalysis,therewereno haplotypessignificantlyassociatedwithrisks