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Genetic analysis of early onset familial coronary artery diseases

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 inve...

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Autores principales: Ghorbani, Mohammad Javad, Razmi, Nematollah, Tabei, Seyed Mohammad Bagher, Zibaeenezhad, Mohammad Javad, Goodarzi, Hamid Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412034/
https://www.ncbi.nlm.nih.gov/pubmed/30863800
http://dx.doi.org/10.5114/amsad.2019.83149
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author Ghorbani, Mohammad Javad
Razmi, Nematollah
Tabei, Seyed Mohammad Bagher
Zibaeenezhad, Mohammad Javad
Goodarzi, Hamid Reza
author_facet Ghorbani, Mohammad Javad
Razmi, Nematollah
Tabei, Seyed Mohammad Bagher
Zibaeenezhad, Mohammad Javad
Goodarzi, Hamid Reza
author_sort Ghorbani, Mohammad Javad
collection PubMed
description 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.
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spelling pubmed-64120342019-03-12 Genetic analysis of early onset familial coronary artery diseases Ghorbani, Mohammad Javad Razmi, Nematollah Tabei, Seyed Mohammad Bagher Zibaeenezhad, Mohammad Javad Goodarzi, Hamid Reza Arch Med Sci Atheroscler Dis Basic Research 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. Termedia Publishing House 2018-02-25 /pmc/articles/PMC6412034/ /pubmed/30863800 http://dx.doi.org/10.5114/amsad.2019.83149 Text en Copyright: © 2019 Termedia & Banach http://creativecommons.org/licenses/by-nc-sa/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
spellingShingle Basic Research
Ghorbani, Mohammad Javad
Razmi, Nematollah
Tabei, Seyed Mohammad Bagher
Zibaeenezhad, Mohammad Javad
Goodarzi, Hamid Reza
Genetic analysis of early onset familial coronary artery diseases
title Genetic analysis of early onset familial coronary artery diseases
title_full Genetic analysis of early onset familial coronary artery diseases
title_fullStr Genetic analysis of early onset familial coronary artery diseases
title_full_unstemmed Genetic analysis of early onset familial coronary artery diseases
title_short Genetic analysis of early onset familial coronary artery diseases
title_sort genetic analysis of early onset familial coronary artery diseases
topic Basic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412034/
https://www.ncbi.nlm.nih.gov/pubmed/30863800
http://dx.doi.org/10.5114/amsad.2019.83149
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