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Association study of polymorphism in Thrombomodulin gene [rs1042579] with cardiovascular disease

Elham Khosravi1, Ladan Sadeghian2, Parisa Mohamadynejad3

  • 1Hypertension Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran. elhamkhosravi32@yahoo.com.

Acta Bio-Medica : Atenei Parmensis
|January 25, 2022
PubMed

Insights

The rs1042579 single nucleotide polymorphism in the Thrombomodulin (THBD) gene is linked to an increased risk of cardiovascular disease. Specifically, the TT genotype is identified as a risk factor in patients compared to healthy individuals.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Medicine
  • Biochemistry

Background:

  • The Thrombomodulin (THBD) gene is crucial for regulating protein C, a key factor in cardiovascular health.
  • Dysregulation of protein C levels is an established risk factor for cardiovascular disease.
  • Genetic variations, such as single nucleotide polymorphisms (SNPs), in the THBD gene may influence Thrombomodulin levels and cardiovascular risk.

Purpose of the Study:

  • To investigate the association between the rs1042579 SNP in the THBD gene and cardiovascular disease risk in an Iranian population.
  • To determine if specific genotypes of the rs1042579 polymorphism confer a higher risk for developing cardiovascular disease.

Main Methods:

  • A case-control study involving 105 Iranian cardiovascular disease patients and 95 healthy controls.
  • Demographic, medical history, and para-clinical data were collected.
  • Sanger sequencing and ARMS-PCR techniques were employed for genotyping and allelic discrimination of the rs1042579 THBD SNP.

Main Results:

  • The rs1042579 polymorphism in the THBD gene was found to be significantly associated with an increased risk of coronary heart disease.
  • Analysis confirmed the presence of CC, TC, and TT genotypes for the rs1042579 SNP.
  • The TT homozygous genotype was identified as a significant risk factor for cardiovascular disease compared to healthy controls.

Conclusions:

  • The rs1042579 polymorphism within the Thrombomodulin (THBD) gene is associated with an elevated risk of developing cardiovascular disease.
  • This genetic variation, particularly the TT genotype, may serve as a predictive marker for cardiovascular disease susceptibility.
Abstract

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