A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

ABSTRACT: We conducted an electronic health record (EHR)-based phenome-wide association study (PheWAS) to discover pleiotropic effects of variants in three lipoprotein metabolism genes PCSK9, APOB, and LDLR. Using high-density genotype data, we tested the associations of variants in the three genes with 1232 EHR-derived binary phecodes in 51,700 European-ancestry (EA) individuals and 585 phecodes in 10,276 African-ancestry (AA) individuals; 457 PCSK9, 730 APOB, and 720 LDLR variants were filtered by imputation quality (r ² > 0.4), minor allele frequency (>1%), linkage disequilibrium (r ² < 0.3), and association with LDL-C levels, yielding a set of two PCSK9, three APOB, and five LDLR variants in EA but

SUBMITTER: Safarova MS 

PROVIDER: S-EPMC6370860 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature