Key result
Homozygous OLR1 missense mutation linked to early-onset familial MI.
Why the study?
Coronary artery disease is a leading cause of death, and early onset MI in a first-degree relative is an independent risk factor, prompting investigation into the genetic causes of early onset familial CAD.
What is the genetic cause of early onset familial CAD in a family with consanguineous marriage?
Population
Patients with a family history of CAD undergoing angiography before age 50 years without traditional risk factors
Design
Family-based genetic analysis study
Authors
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May flag high-risk families for genetic evaluation; leaves open causal variants and clinical utility pending larger studies.
Observational (n=40)
No
What is the genetic cause of early onset familial CAD in a family with consanguineous marriage?
Whole exome sequencing identified a specific gene mutation associated with early-onset familial myocardial infarction, highlighting the importance of genetic screening and counseling in consanguineous families.
Ghorbani et al. (2019) conducted an observational in Early onset familial coronary artery disease and myocardial infarction (n=40). c.501G>C (p.K167N) mutation in the OLR1 gene vs. Wild-type OLR1 gene was evaluated on Identification of genetic mutation causing early onset familial MI. The c.501G>C (p.K167N) missense mutation in the OLR1 gene was identified in the homozygous state as a possible genetic cause of early onset familial myocardial infarction in a consanguineous Iranian family.