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Association between -799C/T single nucleotide polymorphism of the MMP‑8 promoter region and thoracic aortic

Yun Li1, Na Li2, Wei Ma1

  • 1Department of Thoracic Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China.

Molecular Medicine Reports
|August 12, 2014
PubMed

Insights

Single nucleotide polymorphisms in the MMP-8 gene promoter may influence thoracic aortic dissection (TAD) risk. The T allele of the -799C/T polymorphism was more frequent in TAD patients, suggesting a potential predisposition.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Molecular Biology

Background:

  • Thoracic aortic dissection (TAD) is a critical vascular condition with poorly understood genetic underpinnings.
  • Matrix metalloproteinases (MMPs), particularly MMP-8, are implicated in vascular pathologies, but their specific role in TAD development requires further elucidation.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the MMP-8 gene promoter and susceptibility to thoracic aortic dissection (TAD).
  • To compare the genotypic frequencies of MMP-8 promoter SNPs between TAD patients and healthy controls to identify potential risk factors.

Main Methods:

  • Genotyping of 154 TAD patients and 148 healthy controls using DNA extracted from venous blood.
  • Polymerase chain reaction and automatic sequencing were employed to identify SNPs in the MMP-8 promoter region.
  • Statistical analysis, including odds ratios (OR) and 95% confidence intervals (CI), was performed to assess genotype and allele distributions.

Main Results:

  • Two SNPs, -799C/T and -767A/T, were identified in the MMP-8 promoter.
  • No significant difference in the -767A/T genotype distribution was found between TAD patients and controls.
  • Significant differences in genotypic distribution were observed for the -799C/T polymorphism, with a higher frequency of the T allele (27%) in the TAD group compared to controls (13.5%).
  • The genotype distribution adhered to Hardy-Weinberg equilibrium.

Conclusions:

  • The -799C/T polymorphism in the MMP-8 promoter region is potentially associated with the development of thoracic aortic dissection (TAD).
  • The T allele of the -799C/T SNP may confer an increased predisposition to TAD, highlighting a potential genetic risk factor.

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