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Genetic polymorphism of matrix metalloproteinase-1 and coronary artery disease susceptibility: a case-control study

Cui Qintao1, Li Yan, Duan Changhong

  • 11 Department of Cardiothoracic Surgery, First Affiliated Hospital of Xinxiang Medical University , Weihui, People's Republic of China .

Genetic Testing and Molecular Biomarkers
|November 6, 2014
PubMed

Insights

Genetic variations in the matrix metalloproteinase-1 (MMP-1) gene, specifically the rs1799750 polymorphism, are linked to coronary artery disease (CAD) risk in the Han Chinese population. The 2G allele of MMP-1 rs1799750 increases susceptibility to CAD.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Molecular Biology

Background:

  • Coronary artery disease (CAD) is a leading cause of mortality and morbidity worldwide.
  • Matrix metalloproteinases (MMPs), particularly MMP-1, are implicated in cardiovascular pathogenesis.
  • Understanding genetic susceptibility is crucial for CAD prevention and treatment.

Purpose of the Study:

  • To investigate the association between single-nucleotide polymorphisms (SNPs) in the MMP-1 gene and genetic susceptibility to CAD.
  • To identify specific MMP-1 variants that contribute to CAD risk in a Han Chinese population.

Main Methods:

  • Genotyping of nine MMP-1 SNPs (rs1799750, rs498186, rs475007, rs514921, rs494379, rs996999, rs2071232, rs1938901, rs2239008) using MALDI-TOF MassARRAY.
  • Comparison of allele and genotype frequencies between 411 CAD patients and 438 healthy controls.
  • Linkage disequilibrium and haplotype analyses were performed.

Main Results:

  • A significant association was found between the rs1799750 genotype distribution and CAD (p=0.022).
  • The 2G allele of rs1799750 was significantly associated with an increased risk of CAD (p=0.005, OR=1.329).
  • The C-2G haplotype (rs498186-rs1799750) was more prevalent in CAD patients (p=0.001).

Conclusions:

  • Polymorphisms in the MMP-1 promoter region, particularly rs1799750, play a role in CAD susceptibility within the Han Chinese population.
  • The 2G allele of MMP-1 rs1799750 is a potential genetic marker for increased CAD risk.
  • These findings warrant further investigation in larger cohorts and diverse populations.

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