Extended Haplotypes in the Growth Hormone Releasing Hormone Receptor Gene (GHRHR) Are Associated with Normal Variation in Height 英文参考文献.docVIP

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Extended Haplotypes in the Growth Hormone Releasing Hormone Receptor Gene (GHRHR) Are Associated with Normal Variation in Height 英文参考文献.doc

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Extended Haplotypes in the Growth Hormone Releasing Hormone Receptor Gene (GHRHR) Are Associated with Normal Variation in Height 英文参考文献

ExtendedHaplotypesintheGrowthHormoneReleasing HormoneReceptorGene(GHRHR)AreAssociatedwith NormalVariationinHeight Asa? Johansson,IngerJonasson,UlfGyllensten* DepartmentofGeneticsandPathology,Rudbecklaboratory,UppsalaUniversity,Uppsala,Sweden Abstract Mutationsinthegeneforgrowthhormonereleasinghormonereceptor(GHRHR)causeisolatedgrowthhormonedeficiency (IGHD)butthisgenehasnotbeenfoundtoaffectnormalvariationinheight.Weperformedawholegenomelinkageanalysis forheightinapopulationfromnorthernSwedenandidentifiedaregiononchromosome7withalod-scoreof4.7.TheGHRHR geneislocatedinthisregionandtypingoftagSNPsidentifiedahaplotypethatisassociatedwithheight(p=0.00077)inthe originalstudypopulation.AnalysisofasamplefromanindependentpopulationfromthemostnorthernpartofSwedenalso showedanassociationwithheight(p=0.0039)butwithanotherhaplotypeintheGHRHRgene.Bothhaplotypesspanthe39 partoftheGHRHRgene,includingtheregioninwhichmostofthemutationsinIGHDhavebeenlocated.Theeffectsizeof thesehaplotypesarelargerthanthatofanygenepreviouslyassociatedwithheight,whichindicatesthatGHRHRmightbeone ofthemostimportantgenessofaridentifiedaffectingnormalvariationinhumanheight. Citation:JohanssonA,? JonassonI,GyllenstenU(2009)ExtendedHaplotypesintheGrowthHormoneReleasingHormoneReceptorGene(GHRHR)AreAssociated withNormalVariationinHeight.PLoSONE4(2):e4464.doi:10.1371/journal.pone.0004464 Editor:PeterHeutink,VrijeUniversiteitMedicalCentre,Netherlands ReceivedJuly17,2008;AcceptedDecember16,2008;PublishedFebruary11,2009 Copyright: ? 2009 Johansson et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalauthorandsourcearecredited. Funding:ThestudywassupportedbygrantsfromTheSwedishNaturalSciencesResearchCouncil,TheEuropeanCommission/EUROSPAN,TheFoundationfor StrategicResearch(SSF)andTheLinneausCentreforBioinformatics(LCB).Noneofthesponsorsorfundershadanyinvolvementinthed