Analysis of SNPs and Haplotypes in Vitamin D Pathway Genes and Renal Cancer Risk 英文参考文献.docVIP

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Analysis of SNPs and Haplotypes in Vitamin D Pathway Genes and Renal Cancer Risk 英文参考文献.doc

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Analysis of SNPs and Haplotypes in Vitamin D Pathway Genes and Renal Cancer Risk 英文参考文献

AnalysisofSNPsandHaplotypesinVitaminDPathway GenesandRenalCancerRisk SaraKarami1*,PaulBrennan2,PhilipS.Rosenberg1,MarieNavratilova3,DanaMates4,DavidZaridze5, VladimirJanout6,HelenaKollarova6,VladimirBencko7,VsevolodMatveev5,NeonilaSzeszenia- Dabrowska8,IvanaHolcatova7,MeredithYeager9,StephenChanock9,IdanMenashe1 ,Nathaniel Rothman1,Wong-HoChow1,PaoloBoffetta2,LeeE.Moore1 1Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Department of Health and Human Services (DHHS), Bethesda,Maryland,UnitedStatesofAmerica,2InternationalAgencyforResearchonCancer,Lyon,France,3DepartmentofCancerEpidemiologyandGenetics,Masaryk MemorialCancerInstitute,Brno,CzechRepublic,4InstituteofPublicHealth,Bucharest,Romania,5InstituteofCarcinogenesis,CancerResearchCentre,Moscow,Russia, 6Department of Preventive Medicine, Faculty of Medicine, Palacky University, Olomouc, Czech Republic, 7Institute of Hygiene and Epidemiology, First Faculty of Medicine,CharlesUniversity,Prague,CzechRepublic,8DepartmentofEpidemiology,InstituteofOccupationalMedicine,Lodz,Poland,9CoreGenotypingFacilityatthe AdvancedTechnologyCenteroftheNationalCancerInstitute,NationalInstitutesofHealth(NIH),DepartmentofHealthandHumanServices(DHHS),Bethesda,Maryland, UnitedStatesofAmerica Abstract InthekidneyvitaminDisconvertedtoitsactiveform.SincevitaminDexertsitsactivitythroughbindingtothenuclear vitaminDreceptor(VDR),mostgeneticstudieshaveprimarilyfocusedonvariationwithinthisgene.Therefore,analysisof geneticvariationinVDRandothervitaminDpathwaygenesmayprovideinsightintotheroleofvitaminDinrenalcell carcinoma (RCC) etiology. RCC cases (N=777) and controls (N=1,035) were genotyped to investigate the relationship between RCCrisk andvariation ineight targetgenes. Minimum-p-value permutation (Min-P)tests wereused toidentify genesassociatedwithrisk.Athreesinglenucleotidepolymorphism(SNP)slidingwindowwasusedtoidentifychromosomal regionswithaFalseDiscoveryRateof,10%,wheresubsequent