Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
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ABSTRACT:
SUBMITTER: Fahed AC
PROVIDER: S-EPMC7441381 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Publications
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Fahed Akl C AC Wang Minxian M Homburger Julian R JR Patel Aniruddh P AP Bick Alexander G AG Neben Cynthia L CL Lai Carmen C Brockman Deanna D Philippakis Anthony A Ellinor Patrick T PT Cassa Christopher A CA Lebo Matthew M Ng Kenney K Lander Eric S ES Zhou Alicia Y AY Kathiresan Sekar S Khera Amit V AV
Nature communications 20200820 1
Genetic variation can predispose to disease both through (i) monogenic risk variants that disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that involves many variants of small effect in different pathways. Few studies have explored the interplay between monogenic and polygenic risk. Here, we study 80,928 individuals to examine whether polygenic background can modify penetrance of disease in tier 1 genomic conditions - familial hypercholesterolemia, hereditary br ...[more]
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