Association of Polymorphisms at LDLR Locus with Coronary Artery Disease Independently from Lipid Profile

Coronary artery disease (CAD) is the leading cause of mortality in many parts of the world. Genome-wide association studies (GWAS) have identified several genetic variants associated with CAD in Low-density lipoprotein receptor (LDLR) locus. This study was evaluated the possible association of gene...

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Main Authors: Seyed Hamid Jamaldini, Mojgan Babanejad, Reza Mozaffari, Nooshin Nikzat, Khadijeh Jalalvand, Azadeh Badiei, Hamidreza Sanati, Farshad Shakerian, Mahdi Afshari, Kimia Kahrizi, Hossein Najmabadi
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2014-05-01
Series:Acta Medica Iranica
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Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/4618
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spelling doaj-79fd04af3bb24427b0fb3bb4a16289082020-11-25T03:35:01ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942014-05-015254571Association of Polymorphisms at LDLR Locus with Coronary Artery Disease Independently from Lipid ProfileSeyed Hamid Jamaldini0Mojgan Babanejad1Reza Mozaffari2Nooshin Nikzat3Khadijeh Jalalvand4Azadeh Badiei5Hamidreza Sanati6Farshad Shakerian7Mahdi Afshari8Kimia Kahrizi9Hossein Najmabadi10Department of Genetics, Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.Department of Genetics, Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.Department of Genetics, Cardiogenetic Research Center, Tehran, Iran-Department of Genetics, Shahid Rajaie Cardiovascular Medical & Research Center, Tehran, Iran.Department of Genetics, Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.Department of Genetics, Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.Department of Genetics, Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.Department of Genetics, Cardiogenetic Research Center, Tehran, Iran-Department of Genetics, Shahid Rajaie Cardiovascular Medical & Research Center, Tehran, Iran.Department of Genetics, Cardiogenetic Research Center, Tehran, Iran-Department of Genetics, Shahid Rajaie Cardiovascular Medical & Research Center, Tehran, Iran.Department of Health, Faculty of Health, Zabol University of Medical Science, Zabol, Iran.Department of Genetics, Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.Department of Genetics, Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Coronary artery disease (CAD) is the leading cause of mortality in many parts of the world. Genome-wide association studies (GWAS) have identified several genetic variants associated with CAD in Low-density lipoprotein receptor (LDLR) locus. This study was evaluated the possible association of genetic markers at LDLR locus with CAD irrespective to lipid profile and as well as the association of these SNPs with severity of CAD in Iranian population. Sequencing of 2 exons in LDLR gene (Exon 2, 12) and part of intron 30 of SMARCA4 gene include rs1122608, was performed in 170 Iranian patients angiographically confirmed CAD and 104 healthy controls by direct sequencing. Sullivan's scoring system was used for determining the severity of CAD in cases. Our results showed that homozygote genotypes of rs1122608 (P<0.0001), rs4300767 (P<0.005) and rs10417578 (p<0.007) SNPs have strong protective effects on the CAD. In addition, we found that rs1122608 (GT or TT) was at higher risk of three vessel involvement compared to single vessels affecting (P=0.01). https://acta.tums.ac.ir/index.php/acta/article/view/4618Coronary artery diseaseLDLR locusSingle nucleotide polymorphismSMARCA4 gene
collection DOAJ
language English
format Article
sources DOAJ
author Seyed Hamid Jamaldini
Mojgan Babanejad
Reza Mozaffari
Nooshin Nikzat
Khadijeh Jalalvand
Azadeh Badiei
Hamidreza Sanati
Farshad Shakerian
Mahdi Afshari
Kimia Kahrizi
Hossein Najmabadi
spellingShingle Seyed Hamid Jamaldini
Mojgan Babanejad
Reza Mozaffari
Nooshin Nikzat
Khadijeh Jalalvand
Azadeh Badiei
Hamidreza Sanati
Farshad Shakerian
Mahdi Afshari
Kimia Kahrizi
Hossein Najmabadi
Association of Polymorphisms at LDLR Locus with Coronary Artery Disease Independently from Lipid Profile
Acta Medica Iranica
Coronary artery disease
LDLR locus
Single nucleotide polymorphism
SMARCA4 gene
author_facet Seyed Hamid Jamaldini
Mojgan Babanejad
Reza Mozaffari
Nooshin Nikzat
Khadijeh Jalalvand
Azadeh Badiei
Hamidreza Sanati
Farshad Shakerian
Mahdi Afshari
Kimia Kahrizi
Hossein Najmabadi
author_sort Seyed Hamid Jamaldini
title Association of Polymorphisms at LDLR Locus with Coronary Artery Disease Independently from Lipid Profile
title_short Association of Polymorphisms at LDLR Locus with Coronary Artery Disease Independently from Lipid Profile
title_full Association of Polymorphisms at LDLR Locus with Coronary Artery Disease Independently from Lipid Profile
title_fullStr Association of Polymorphisms at LDLR Locus with Coronary Artery Disease Independently from Lipid Profile
title_full_unstemmed Association of Polymorphisms at LDLR Locus with Coronary Artery Disease Independently from Lipid Profile
title_sort association of polymorphisms at ldlr locus with coronary artery disease independently from lipid profile
publisher Tehran University of Medical Sciences
series Acta Medica Iranica
issn 0044-6025
1735-9694
publishDate 2014-05-01
description Coronary artery disease (CAD) is the leading cause of mortality in many parts of the world. Genome-wide association studies (GWAS) have identified several genetic variants associated with CAD in Low-density lipoprotein receptor (LDLR) locus. This study was evaluated the possible association of genetic markers at LDLR locus with CAD irrespective to lipid profile and as well as the association of these SNPs with severity of CAD in Iranian population. Sequencing of 2 exons in LDLR gene (Exon 2, 12) and part of intron 30 of SMARCA4 gene include rs1122608, was performed in 170 Iranian patients angiographically confirmed CAD and 104 healthy controls by direct sequencing. Sullivan's scoring system was used for determining the severity of CAD in cases. Our results showed that homozygote genotypes of rs1122608 (P<0.0001), rs4300767 (P<0.005) and rs10417578 (p<0.007) SNPs have strong protective effects on the CAD. In addition, we found that rs1122608 (GT or TT) was at higher risk of three vessel involvement compared to single vessels affecting (P=0.01).
topic Coronary artery disease
LDLR locus
Single nucleotide polymorphism
SMARCA4 gene
url https://acta.tums.ac.ir/index.php/acta/article/view/4618
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