Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.
Mengyao YuMatthew AguirreMeiwen JiaKetrin GjoniAldo Cordova-PalomeraChad MungerDulguun AmgalanX Rosa MaAlexandre da Costa PereiraCatherine TcheandjieuChristine E SeidmanJonathan G SeidmanMartin Tristani-FirouziWendy K ChungElizabeth GoldmuntzDeepak SrivastavaRuth J F LoosNathalie ChamiHeather J CordellMartina DreßenBertram Mueller-MyhsokHarald LahmMarkus KraneKatherine S PollardJesse M EngreitzSarah A Gagliano TaliunBruce D GelbJames R PriestPublished in: Circulation. Genomic and precision medicine (2023)
We describe a set of rare noncoding variants conferring significant risk for individual heart malformations which are linked to genes governing cardiac development. These results illustrate that the oligogenic basis of CHD and significant heritability may be linked to rare variants outside protein-coding regions conferring substantial risk for individual categories of cardiac malformation.