Pathway-based genetic analysis of preterm birth

Genomics

James F. Padbury¹  Andrew T. Dewan¹  Sorin Istrail¹  Alper Uzun¹ 

关键词: Preterm birth;    Pathway analysis;    GWAS;   

DOI  :  10.1016/j.ygeno.2012.12.005

学科分类：医学（综合）

来源: Academic Press

【 摘 要 】

PretermbirthintheUnitedStatesisnow12%.Multiplegenes,genenetworks,andvariantshavebeenassociatedwiththisdisease.Usingacustomdatabaseforpretermbirth(dbPTB)witharefinedsetofgenesextensivelycuratedfromliteratureandbiologicaldatabases,weanalyzedGWASofpretermbirthforcompletegenotypedataonnearly2000pretermandtermmothers.Weusedboththecuratedgenesandagenome-wideapproachtocarryoutapathway-basedanalysis.Therewere19significantpathways,whichwithstoodFDRcorrectionformultipletestingthatwereidentifiedusingboththecuratedgenesandthegenome-wideapproach.Theanalysisbasedonthecuratedgeneswasmoresignificantthangenome-widein15outof19pathways.Thisapproachdemonstratestheuseofavalidatedsetofgenes,intheanalysisofotherwiseunsuccessfulGWASdata,toidentifygenendash;geneinteractionsinawaythatenhancesstatisticalpoweranddiscovery.

【 授权许可】

Unknown   

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