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A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development

M Boerma1, L Forsberg, L Van Zeijl

  • 1Division of Biochemical Toxicology, Institute of Environmental Medicine, Karolinska Institute, Stockholm, Sweden.

Journal of Internal Medicine
|August 14, 1999
PubMed

Insights

A specific genetic variation in connexin 37 (cx37) was found more frequently in individuals with atherosclerotic plaque. This cx37 polymorphism may serve as a marker for assessing atherosclerosis development, especially in high-risk cardiovascular groups.

Area of Science:

  • Cardiovascular Biology
  • Molecular Genetics
  • Vascular Biology

Background:

  • Atherosclerosis involves inflammation and altered cell communication in blood vessels.
  • Gap junctions, particularly connexin 37 (cx37) in endothelial cells, are implicated in myoendothelial communication and atherosclerosis.
  • Previous research suggests a link between inflammation and gap junction function in the development of atherosclerotic phenotypes.

Purpose of the Study:

  • To investigate structural polymorphisms in connexin 37 (cx37).
  • To determine if specific cx37 genotypes segregate with atherosclerotic plaque presence.
  • To explore cx37 as a potential marker for atherosclerosis development.

Main Methods:

  • Computer-based analysis of Expressed Sequence Tags (ESTs) predicted a cx37 polymorphism (C1019-T mutation).
  • A Restriction Fragment Length Polymorphism (RFLP) assay was developed to detect the proline variant (cx37*1).
  • Genotyping was performed on individuals with and without atherosclerotic plaque.

Main Results:

  • The C1019-T mutation in cx37 results in a proline to serine amino acid shift at codon 319 (cx37*1-cx37*2).
  • A statistically significant over-representation of the cx37*1 allele was observed in individuals with atherosclerotic plaque (Odds-ratio = 2.38, P = 0.006).
  • This association remained significant irrespective of hypertension history.

Conclusions:

  • The C1019-T polymorphism in cx37 may function as a single gene marker.
  • This marker could aid in assessing atherosclerotic plaque development.
  • It may be particularly useful for cardiovascular risk stratification, including individuals with borderline hypertension.
Abstract

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