Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data.
Stephanie A BienPaul L AuerTabitha A HarrisonConghui QuCharles M ConnollyPeyton G GreensideSai ChenSonja I BerndtStéphane BézieauHyun M KangJeroen HuygheHermann BrennerGraham CaseyAndrew T ChanJohn L HopperBarbara L BanburyJenny Chang-ClaudeStephen J ChanockRobert W HaileMichael HoffmeisterChristian FuchsbergerMark E JenkinsSuzanne M LealMathieu LemirePolly A NewcombSteven GallingerJohn D PotterRobert E SchoenMartha L SlatteryJoshua D SmithLoic Le MarchandEmily WhiteBrent W ZankeGoncalo R AbeçasisChristopher S CarlsonUlrike PetersDeborah A NickersonAnshul KundajeLi Hsunull nullPublished in: PloS one (2017)
Integrative epigenomic RVAM may enable discovery of less frequent variants associated with CRC, and ARE of digestive and immune tissues are most informative. Although distance-based aggregation of less frequent variants in CR ARE surrounding TSS showed modest enrichment, future association studies would likely benefit from joint analysis of transcriptomes and epigenomes to better link regulatory variation with target genes.