Mutated CYP17A1 promotes atherosclerosis and early-onset coronary artery disease.

ABSTRACT:

Background

Coronary artery disease (CAD) is a multi-factor complex trait and is heritable, especially in early-onset families. However, the genetic factors affecting the susceptibility of early-onset CAD are not fully characterized.

Methods

In the present study, we identified a rare nonsense variant in the CYP17A1 gene from a Chinese Han family with CAD. To validate the effect of this variation on atherosclerosis and early-onset coronary artery disease, we conducted studies on population, cells, and mice.

Results

The mutation precisely congregated with the clinical syndrome in all the affected family members and was absent in unaffected family members and unrelated controls. Similar to the human phenotype, the CYP17A1-deficient mice present the phenotype of metabolic

SUBMITTER: Wu TT 

PROVIDER: S-EPMC10294473 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature