Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis.

ABSTRACT: Cardiovascular diseases are the leading cause of premature death and disability worldwide, with both genetic and environmental determinants. While genome-wide association studies have identified multiple genetic loci associated with cardiovascular diseases, exact genes driving these associations remain mostly uncovered. Due to Finland's population history, many deleterious and high-impact variants are enriched in the Finnish population giving a possibility to find genetic associations for protein-truncating variants that likely tie the association to a gene and that would not be detected elsewhere. In a large Finnish biobank study FinnGen, we identified an association between an inframe insertion rs534125149 in MFGE8 (encoding lactadherin) and protection against coronary atherosclerosis. T

SUBMITTER: Ruotsalainen SE 

PROVIDER: S-EPMC9385630 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature