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A Polymorphism in Hepatocyte Nuclear Factor 1 Alpha, rs7310409, Is Associated with Left Main Coronary Artery Disease

Rui Liu1, Hanning Liu1, Haiyong Gu2

  • 1State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, 167 Beilishilu Street, Beijing 100037, China.

Biochemistry Research International
|September 10, 2014
PubMed

Insights

Genetic variations in the hepatocyte nuclear factor 1 alpha (HNF1A) gene may increase the risk of left main coronary artery disease (LMCAD). The HNF1A rs7310409 polymorphism is linked to higher LMCAD susceptibility in the Chinese population.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Coronary artery disease (CAD) is a major global health concern.
  • Left main coronary artery disease (LMCAD) represents a severe form of CAD with a known genetic component.
  • Inflammation and hyperhomocysteinemia are implicated in CAD pathogenesis.

Purpose of the Study:

  • To investigate the association between specific gene polymorphisms and LMCAD risk in a Chinese population.
  • To explore the potential role of inflammation- and hyperhomocysteinemia-related gene variants in LMCAD susceptibility.

Main Methods:

  • Case-control study involving 402 LMCAD patients and 804 peripheral CAD patients.
  • Genotyping of polymorphisms in HNF1A (rs7310409), CRP (rs1800947, rs3093059), MTHFR (rs1801133), and MTHFDH (rs1076991) using MALDI-TOF MS.
  • Statistical analysis to determine genotype-phenotype associations.

Main Results:

  • The HNF1A rs7310409 G/A polymorphism, specifically the GA and AA genotypes, was significantly associated with an increased risk of LMCAD compared to the GG genotype.
  • No significant associations were found for the studied CRP, MTHFR, and MTHFDH polymorphisms with LMCAD risk.
  • The HNF1A rs7310409 polymorphism showed a strong correlation with plasma C-reactive protein (CRP) levels.

Conclusions:

  • The HNF1A rs7310409 G/A functional polymorphism is a potential genetic risk factor for LMCAD in the Chinese population.
  • This finding highlights the role of HNF1A in LMCAD pathogenesis, possibly through its association with inflammatory markers like CRP.

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