MMP-9 haplotypes and carotid artery atherosclerosis: An association study introducing a novel multicolour multiplex RealTime PCR protocol

Isabella Rauch, B. Iglseder, B. Paulweber, G. Ladurner, P. Strasser

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Background: Among other matrix metalloproteinases (MMPs), gelatinase B (MMP-9) is discussed to be associated with the pathogenesis of vascular diseases. Two single nucleotide polymorphisms (SNPs) of the MMP-9 gene, C-1562T in the promoter region and a G/A transition in exon 6 (R + 279Q), have been addressed in previous association studies which, however, produced conflicting results. Material and methods: A novel multiplex RealTime PCR protocol for the fast and simultaneous detection of both polymorphisms is presented, which was used for genotyping 1737 participants of a prospective study investigating genetic factors influencing the progression of atherosclerosis. Results: Haplotype analysis revealed -1562C/+279Q as the major haplotype in this population. Allelic distribution of the C-1562T polymorphism was consistent with data published for similar cohorts; however, we found that R + 279Q allelic distribution appears to vary significantly among Caucasian populations. Considering clinical data available from 1487 participants, we found significant associations between the presence of atherosclerotic plaque and the CA-haplotype in men (P = 0·028, phi = 0·08), and between the AG variant of exon 6 and common carotid artery intima-media thickness (CIMT) in women (P = 0·004, Eta2 = 0·019). Conclusions: In summary, our results demonstrate associations of MMP-9 genotypes with different stages of carotid atherosclerosis.

Original languageEnglish (US)
Pages (from-to)24-33
Number of pages10
JournalEuropean Journal of Clinical Investigation
Volume38
Issue number1
DOIs
StatePublished - Jan 1 2008
Externally publishedYes

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Carotid Artery Diseases
Multiplex Polymerase Chain Reaction
Matrix Metalloproteinase 9
Carotid Arteries
Haplotypes
Polymorphism
Exons
Carotid Intima-Media Thickness
Common Carotid Artery
Atherosclerotic Plaques
Matrix Metalloproteinases
Vascular Diseases
Genetic Promoter Regions
Population
Single Nucleotide Polymorphism
Atherosclerosis
Nucleotides
Genes
Genotype
Prospective Studies

Keywords

  • Atherosclerosis
  • MMP-9
  • RealTime PCR
  • SNP

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry
  • Clinical Biochemistry

Cite this

MMP-9 haplotypes and carotid artery atherosclerosis : An association study introducing a novel multicolour multiplex RealTime PCR protocol. / Rauch, Isabella; Iglseder, B.; Paulweber, B.; Ladurner, G.; Strasser, P.

In: European Journal of Clinical Investigation, Vol. 38, No. 1, 01.01.2008, p. 24-33.

Research output: Contribution to journalArticle

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N2 - Background: Among other matrix metalloproteinases (MMPs), gelatinase B (MMP-9) is discussed to be associated with the pathogenesis of vascular diseases. Two single nucleotide polymorphisms (SNPs) of the MMP-9 gene, C-1562T in the promoter region and a G/A transition in exon 6 (R + 279Q), have been addressed in previous association studies which, however, produced conflicting results. Material and methods: A novel multiplex RealTime PCR protocol for the fast and simultaneous detection of both polymorphisms is presented, which was used for genotyping 1737 participants of a prospective study investigating genetic factors influencing the progression of atherosclerosis. Results: Haplotype analysis revealed -1562C/+279Q as the major haplotype in this population. Allelic distribution of the C-1562T polymorphism was consistent with data published for similar cohorts; however, we found that R + 279Q allelic distribution appears to vary significantly among Caucasian populations. Considering clinical data available from 1487 participants, we found significant associations between the presence of atherosclerotic plaque and the CA-haplotype in men (P = 0·028, phi = 0·08), and between the AG variant of exon 6 and common carotid artery intima-media thickness (CIMT) in women (P = 0·004, Eta2 = 0·019). Conclusions: In summary, our results demonstrate associations of MMP-9 genotypes with different stages of carotid atherosclerosis.

AB - Background: Among other matrix metalloproteinases (MMPs), gelatinase B (MMP-9) is discussed to be associated with the pathogenesis of vascular diseases. Two single nucleotide polymorphisms (SNPs) of the MMP-9 gene, C-1562T in the promoter region and a G/A transition in exon 6 (R + 279Q), have been addressed in previous association studies which, however, produced conflicting results. Material and methods: A novel multiplex RealTime PCR protocol for the fast and simultaneous detection of both polymorphisms is presented, which was used for genotyping 1737 participants of a prospective study investigating genetic factors influencing the progression of atherosclerosis. Results: Haplotype analysis revealed -1562C/+279Q as the major haplotype in this population. Allelic distribution of the C-1562T polymorphism was consistent with data published for similar cohorts; however, we found that R + 279Q allelic distribution appears to vary significantly among Caucasian populations. Considering clinical data available from 1487 participants, we found significant associations between the presence of atherosclerotic plaque and the CA-haplotype in men (P = 0·028, phi = 0·08), and between the AG variant of exon 6 and common carotid artery intima-media thickness (CIMT) in women (P = 0·004, Eta2 = 0·019). Conclusions: In summary, our results demonstrate associations of MMP-9 genotypes with different stages of carotid atherosclerosis.

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