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Functional analysis of the C-reactive protein (CRP) gene -717A>G polymorphism associated with coronary heart disease

Laiyuan Wang1, Xiangfeng Lu, Yun Li

  • 1Department of Evidence Based Medicine & Division of Population Genetics, Fu Wai Hospital & Cardiovascular Institute, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, PR China. wanglaiyuan@yahoo.com.cn

BMC Medical Genetics
|July 24, 2009
PubMed

Insights

Genetic variation in the C-reactive protein (CRP) gene promoter, specifically rs2794521, influences CRP expression and is linked to coronary heart disease (CHD). This SNP likely affects CHD risk by altering CRP levels.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Inflammation Research

Background:

  • Atherosclerosis, a key mechanism in coronary heart disease (CHD), involves inflammation.
  • C-reactive protein (CRP) is a marker of inflammation and plays a proatherogenic role.
  • A previous study linked the CRP gene promoter polymorphism rs2794521 (-717A>G) to CHD in Chinese individuals.

Purpose of the Study:

  • To investigate the biological significance of the rs2794521 genetic variation in vitro.
  • To determine how the G to A substitution at rs2794521 affects CRP gene transcriptional activity.
  • To examine the differential binding of protein factors to the rs2794521 A and G alleles.

Main Methods:

  • Luciferase reporter assays were used to assess the impact of the rs2794521 G to A substitution on CRP promoter activity.
  • Electrophoretic Mobility Shift Assay (EMSA) was employed to detect protein binding to the rs2794521 site.

Main Results:

  • The G to A exchange at rs2794521 significantly increased the transcriptional activity of the CRP gene promoter.
  • Glucocorticoid receptor (GR) protein binding differed substantially between the A and G alleles at the rs2794521 site.

Conclusions:

  • The findings provide functional evidence supporting the association between the CRP gene SNP rs2794521 and CHD.
  • This association is likely mediated by the differential regulation of CRP expression due to variations at rs2794521.
Abstract

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