ISSN: 2451-0629
Archives of Medical Science - Atherosclerotic Diseases
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Official journal of the International Lipid Expert Panel (ILEP)
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1/2019
vol. 4
 
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abstract:
Basic research

Genetic analysis of early onset familial coronary artery diseases

Mohammad Javad Ghorbani
,
Nematollah Razmi
,
Seyed Mohammad Bagher Tabei
,
Mohammad Javad Zibaeenezhad
,
Hamid Reza Goodarzi

Arch Med Sci Atheroscler Dis 2019; 4: e1–e6
Online publish date: 2019/02/25
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Introduction
Coronary artery diseases (CAD) are the most common causes of death. Myocardial infarction (MI) is a complex multifactorial and the most severe type of CAD. Early onset MI in a first-degree relative could be defined as an independent risk factor for CAD. This study was performed to investigate the genetic cause of early onset familial CAD.

Material and methods
In this study, the genetic cause of familial CAD was investigated in patients with a family history of CAD who underwent angiography before the age of 50 years. The patients did not have any diagnostic criteria for familial hypercholesterolemia, diabetes, or obesity, and also they were not opium or alcohol users. Whole exome sequencing in probands was performed and mutation was confirmed by PCR and Sanger sequencing.

Results
In our studied population, the c.501G>C (p.K167N) mutation in the OLR1 gene was identified in a family. Mutation was confirmed by PCR and Sanger sequencing in the homozygous state (GG) in patients. Healthy individuals in this family were heterozygous (GC) and homozygous (CC).

Conclusions
This finding suggests that the OLR1 gene could be a possible cause of early onset familial MI. Considering that parents of all affected individuals had a consanguineous marriage, it is important to perform carrier screening and genetic counseling in this family and their close relatives as a prevention strategy in populations at risk.

keywords:

myocardial infarction, OLR1 gene, whole exome sequencing

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