Genetic Determinants of Facial Clefting Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia 英文参考文献.docVIP

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Genetic Determinants of Facial Clefting Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia 英文参考文献.doc

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Genetic Determinants of Facial Clefting Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia 英文参考文献

GeneticDeterminantsofFacialClefting:Analysisof357 CandidateGenesUsingTwoNationalCleftStudiesfrom Scandinavia AstanandJugessur1.,MinShi2.,Ha?konKristianGjessing3,4,RolvTerjeLie4,5,AllenJamesWilcox6, ClariceRingWeinberg2,KaareChristensen7,AbeeLowmanBoyles6,SandraDaack-Hirsch8,TrucNguyen Trung5,CamillaBille7,AndrewCarlLidral9,JeffreyClarkMurray7,9* 1CraniofacialDevelopment,MusculoskeletalDisorders,MurdochChildrensResearchInstitute,RoyalChildren’sHospital,Parkville,Australia,2BiostatisticsBranch,National Institute ofEnvironmentalHealthSciences(NIEHS),ResearchTrianglePark,Durham,North Carolina,UnitedStatesofAmerica, 3DepartmentofEpidemiology(EPAM), NorwegianInstituteofPublicHealth,Oslo,Norway,4SectionforEpidemiologyandMedicalStatistics,DepartmentofPublicHealthandPrimaryHealthCare,Universityof Bergen, Bergen, Norway, 5Medical Birth Registry of Norway, Norwegian Institute of Public Health, Bergen, Norway, 6Epidemiology Branch, National Institute of EnvironmentalHealthSciences(NIEHS),ResearchTrianglePark,Durham,NorthCarolina,UnitedStatesofAmerica,7DepartmentofEpidemiology,UniversityofSouthern Denmark,Odense,Denmark,8CollegeofNursing,UniversityofIowa,IowaCity,Iowa,UnitedStatesofAmerica,9DepartmentsofPediatrics,EpidemiologyandBiological Sciences,UniversityofIowa,IowaCity,Iowa,UnitedStatesofAmerica Abstract Background:Facialcleftsarecommonbirthdefectswithastronggeneticcomponent.Toidentifyfetalgeneticriskfactors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway:562case-parentand592control-parenttriads;Denmark:235case-parenttriads). Methodology/Principal Findings: We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMMtests for association in eachgene by using multi-SNPgenotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotypedistributionoverasetofSNPsand