Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease.

ABSTRACT: Congenital heart disease (CHD) is a rare structural defect that occurs in ∼1% of live births. Studies on CHD genetic architecture have identified pathogenic single-gene mutations in less than 30% of cases. Single-gene mutations often show incomplete penetrance and variable expressivity. Therefore, we hypothesize that genetic background may play a role in modulating disease expression. Polygenic risk scores (PRSs) aggregate effects of common genetic variants to investigate whether, cumulatively, these variants are associated with disease penetrance or severity. However, the major limitations in this field have been in generating sufficient sample sizes for these studies. Here we used CHD-phenotype matched genome-wide association study (GWAS) summary statistics from the UK Biobank (UKBB) as

SUBMITTER: Spendlove SJ 

PROVIDER: S-EPMC9118152 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature