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Replication of Genetic Association Studies in Aortic Stenosis in Adults

Only a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal of this study was to validate genes previously associated with AS. Seven genes were assessed: APOB, APOE, CTGF, IL10, PTH, TGFB1, and VDR. Each gene was tested for a comprehe... Full description

Journal Title: The American journal of cardiology 2011, Vol.108 (9), p.1305-1310
Main Author: Gaudreault, Nathalie, BSc
Other Authors: Ducharme, Valérie, BSc , Lamontagne, Maxime, BSc , Guauque-Olarte, Sandra, MSc , Mathieu, Patrick, MD , Pibarot, Philippe, DVM, PhD , Bossé, Yohan, PhD
Format: Electronic Article Electronic Article
Language: English
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Publisher: New York, NY: Elsevier Inc
ID: ISSN: 0002-9149
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recordid: cdi_proquest_miscellaneous_898838551
title: Replication of Genetic Association Studies in Aortic Stenosis in Adults
format: Article
creator:
  • Gaudreault, Nathalie, BSc
  • Ducharme, Valérie, BSc
  • Lamontagne, Maxime, BSc
  • Guauque-Olarte, Sandra, MSc
  • Mathieu, Patrick, MD
  • Pibarot, Philippe, DVM, PhD
  • Bossé, Yohan, PhD
subjects:
  • Abridged Index Medicus
  • Adults
  • Aged
  • Aortic valve stenosis
  • Aortic Valve Stenosis - genetics
  • Apolipoproteins
  • Apolipoproteins B - genetics
  • Apolipoproteins E - genetics
  • Biological and medical sciences
  • Cardiology
  • Cardiology. Vascular system
  • Cardiovascular
  • Case-Control Studies
  • Codon
  • Connective Tissue Growth Factor - genetics
  • Cytokines
  • Endocardial and cardiac valvular diseases
  • Female
  • Gene Frequency
  • Genes
  • Genetic research
  • Genetics
  • Genotype
  • Genotype & phenotype
  • Heart
  • Heterozygote
  • Humans
  • Interleukin-10 - genetics
  • Male
  • Medical sciences
  • Mutation, Missense
  • Parathyroid hormone
  • Parathyroid Hormone - genetics
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Receptors, Calcitriol - genetics
  • Severity of Illness Index
  • Stents
  • Transforming Growth Factor beta1 - genetics
ispartof: The American journal of cardiology, 2011, Vol.108 (9), p.1305-1310
description: Only a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal of this study was to validate genes previously associated with AS. Seven genes were assessed: APOB, APOE, CTGF, IL10, PTH, TGFB1, and VDR. Each gene was tested for a comprehensive set of single-nucleotide polymorphisms (SNPs). SNPs were genotyped in 457 patients who underwent surgical aortic valve replacement, and allele frequencies were compared to 3,294 controls. A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001). A second SNP located 5.6 kilobases downstream of the APOB stop codon was also associated with the disease (rs6725189, p = 0.000013). Six SNPs surrounding the IL10 locus were strongly associated with AS (0.02 >p >6.2 × 10−11 ). The most compelling association for IL10 was found with a promoter polymorphism (rs1800872) well known to regulate the production of the encoded anti-inflammatory cytokine. The frequency of the low-producing allele was greater in cases compared to controls (30% vs 20%, p = 6.2 × 10−11 ). SNPs in PTH, TGFB1, and VDR had nominal p values
language: eng
source:
identifier: ISSN: 0002-9149
fulltext: no_fulltext
issn:
  • 0002-9149
  • 1879-1913
url: Link


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titleReplication of Genetic Association Studies in Aortic Stenosis in Adults
creatorGaudreault, Nathalie, BSc ; Ducharme, Valérie, BSc ; Lamontagne, Maxime, BSc ; Guauque-Olarte, Sandra, MSc ; Mathieu, Patrick, MD ; Pibarot, Philippe, DVM, PhD ; Bossé, Yohan, PhD
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descriptionOnly a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal of this study was to validate genes previously associated with AS. Seven genes were assessed: APOB, APOE, CTGF, IL10, PTH, TGFB1, and VDR. Each gene was tested for a comprehensive set of single-nucleotide polymorphisms (SNPs). SNPs were genotyped in 457 patients who underwent surgical aortic valve replacement, and allele frequencies were compared to 3,294 controls. A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001). A second SNP located 5.6 kilobases downstream of the APOB stop codon was also associated with the disease (rs6725189, p = 0.000013). Six SNPs surrounding the IL10 locus were strongly associated with AS (0.02 >p >6.2 × 10−11 ). The most compelling association for IL10 was found with a promoter polymorphism (rs1800872) well known to regulate the production of the encoded anti-inflammatory cytokine. The frequency of the low-producing allele was greater in cases compared to controls (30% vs 20%, p = 6.2 × 10−11 ). SNPs in PTH, TGFB1, and VDR had nominal p values <0.05 but did not resist Bonferroni correction. In conclusion, this study suggests that subjects carrying specific polymorphisms in the IL10 and APOB genes are at higher risk for developing AS.
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subjectAbridged Index Medicus ; Adults ; Aged ; Aortic valve stenosis ; Aortic Valve Stenosis - genetics ; Apolipoproteins ; Apolipoproteins B - genetics ; Apolipoproteins E - genetics ; Biological and medical sciences ; Cardiology ; Cardiology. Vascular system ; Cardiovascular ; Case-Control Studies ; Codon ; Connective Tissue Growth Factor - genetics ; Cytokines ; Endocardial and cardiac valvular diseases ; Female ; Gene Frequency ; Genes ; Genetic research ; Genetics ; Genotype ; Genotype & phenotype ; Heart ; Heterozygote ; Humans ; Interleukin-10 - genetics ; Male ; Medical sciences ; Mutation, Missense ; Parathyroid hormone ; Parathyroid Hormone - genetics ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Receptors, Calcitriol - genetics ; Severity of Illness Index ; Stents ; Transforming Growth Factor beta1 - genetics
ispartofThe American journal of cardiology, 2011, Vol.108 (9), p.1305-1310
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2Lamontagne, Maxime, BSc
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4Mathieu, Patrick, MD
5Pibarot, Philippe, DVM, PhD
6Bossé, Yohan, PhD
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descriptionOnly a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal of this study was to validate genes previously associated with AS. Seven genes were assessed: APOB, APOE, CTGF, IL10, PTH, TGFB1, and VDR. Each gene was tested for a comprehensive set of single-nucleotide polymorphisms (SNPs). SNPs were genotyped in 457 patients who underwent surgical aortic valve replacement, and allele frequencies were compared to 3,294 controls. A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001). A second SNP located 5.6 kilobases downstream of the APOB stop codon was also associated with the disease (rs6725189, p = 0.000013). Six SNPs surrounding the IL10 locus were strongly associated with AS (0.02 >p >6.2 × 10−11 ). The most compelling association for IL10 was found with a promoter polymorphism (rs1800872) well known to regulate the production of the encoded anti-inflammatory cytokine. The frequency of the low-producing allele was greater in cases compared to controls (30% vs 20%, p = 6.2 × 10−11 ). SNPs in PTH, TGFB1, and VDR had nominal p values <0.05 but did not resist Bonferroni correction. In conclusion, this study suggests that subjects carrying specific polymorphisms in the IL10 and APOB genes are at higher risk for developing AS.
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1Adults
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3Aortic valve stenosis
4Aortic Valve Stenosis - genetics
5Apolipoproteins
6Apolipoproteins B - genetics
7Apolipoproteins E - genetics
8Biological and medical sciences
9Cardiology
10Cardiology. Vascular system
11Cardiovascular
12Case-Control Studies
13Codon
14Connective Tissue Growth Factor - genetics
15Cytokines
16Endocardial and cardiac valvular diseases
17Female
18Gene Frequency
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21Genetics
22Genotype
23Genotype & phenotype
24Heart
25Heterozygote
26Humans
27Interleukin-10 - genetics
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29Medical sciences
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31Parathyroid hormone
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33Polymorphism, Single Nucleotide
34Promoter Regions, Genetic
35Receptors, Calcitriol - genetics
36Severity of Illness Index
37Stents
38Transforming Growth Factor beta1 - genetics
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titleReplication of Genetic Association Studies in Aortic Stenosis in Adults
authorGaudreault, Nathalie, BSc ; Ducharme, Valérie, BSc ; Lamontagne, Maxime, BSc ; Guauque-Olarte, Sandra, MSc ; Mathieu, Patrick, MD ; Pibarot, Philippe, DVM, PhD ; Bossé, Yohan, PhD
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37Stents
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abstractOnly a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal of this study was to validate genes previously associated with AS. Seven genes were assessed: APOB, APOE, CTGF, IL10, PTH, TGFB1, and VDR. Each gene was tested for a comprehensive set of single-nucleotide polymorphisms (SNPs). SNPs were genotyped in 457 patients who underwent surgical aortic valve replacement, and allele frequencies were compared to 3,294 controls. A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001). A second SNP located 5.6 kilobases downstream of the APOB stop codon was also associated with the disease (rs6725189, p = 0.000013). Six SNPs surrounding the IL10 locus were strongly associated with AS (0.02 >p >6.2 × 10−11 ). The most compelling association for IL10 was found with a promoter polymorphism (rs1800872) well known to regulate the production of the encoded anti-inflammatory cytokine. The frequency of the low-producing allele was greater in cases compared to controls (30% vs 20%, p = 6.2 × 10−11 ). SNPs in PTH, TGFB1, and VDR had nominal p values <0.05 but did not resist Bonferroni correction. In conclusion, this study suggests that subjects carrying specific polymorphisms in the IL10 and APOB genes are at higher risk for developing AS.
copNew York, NY
pubElsevier Inc
pmid21855833
doi10.1016/j.amjcard.2011.06.050