Gene-based copy number variation study reveals a microdeletion at 12q24 that influences height in the Korean population

Genomics

Jong-Young Lee¹  Bong-Jo Kim¹  Dong-Joon Kim¹  Bok-Ghee Han¹  Ji Hee Oh¹  Sanghoon Moon¹  Young Jin Kim¹  Yun Kyoung Kim¹  Mi Yeong Hwang¹ 

关键词: Copy number variation;    Height;    Genome-wide association study;    Structural variation;    Deletion;   

DOI  :  10.1016/j.ygeno.2012.11.002

学科分类：医学（综合）

来源: Academic Press

【 摘 要 】

Heightisaclassicpolygenictraitwithhighheritability(h²#xA0;=#xA0;0.8).Recentgenome-wideassociationstudieshaverevealedmanyindependentlociassociatedwithhumanheight.Inaddition,althoughmanystudieshavereportedanassociationbetweencopynumbervariation(CNV)andcomplexdiseases,fewhaveexploredtherelationshipbetweenCNVandheight.Recentstudiesreportedthatsinglenucleotidepolymorphisms(SNPs)arehighlycorrelatedwithcommonCNVs,suggestingthatitiswarrantedtosurveyCNVstoidentifyadditionalgeneticfactorsaffectingheritabletraitssuchasheight.

ThisstudytestedthehypothesisthattherewouldbeCNVregions(CNVRs)associatedwithheightnearbygenesfromtheGWASsknowntoaffectheight.Weidentifiedregionscontaininggt;#xA0;1%copynumberdeletionfrequencyfrom3667population-basedcohortsamplesusingtheIlluminaHumanOmni1-QuadBeadChip.AmongtheidentifiedCNVRs,weselected15candidateregionsthatwerelocatedwithin1#xA0;Mbof283previouslyreportedgenes.ToassesstheeffectoftheseCNVRsonheight,statisticalanalyseswereconductedwithsamplesfromacasegroupof370taller(upper10%)individualsandacontrolgroupof1828individuals(lower50%).

Wefoundthatanewlyidentified17.7#xA0;kbdeletionatchromosomalposition12q24.33,approximately171.6#xA0;kbdownstreamofGPR133,significantlycorrelatedwithheight;thisfindingwasvalidatedusingquantitativePCR.TheseresultssuggestthatCNVsarepotentiallyimportantindeterminingheightandmaycontributetoheightvariationinhumanpopulations.

【 授权许可】

Unknown   

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