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Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein

Alexander P Reiner1, Mathew J Barber, Yongtao Guan

  • 1University of Washington, Department of Epidemiology, Seattle, WA 98195, USA. apreiner@u.washington.edu

American Journal of Human Genetics
|April 29, 2008
PubMed

Insights

Common HNF1A gene variations are linked to C-reactive protein (CRP) levels. These findings, confirmed across two studies, highlight genetic factors influencing cardiovascular disease risk through CRP.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Biochemistry

Background:

  • Plasma C-reactive protein (CRP) is a key inflammatory marker associated with cardiovascular disease (CVD) risk.
  • Hepatocyte nuclear factor-1 alpha (HNF1A) plays a role in various biological processes, and its genetic variations may influence CRP levels.
  • Understanding the genetic underpinnings of CRP concentration is crucial for personalized CVD risk assessment.

Purpose of the Study:

  • To investigate the association between common polymorphisms in the HNF1A gene and plasma CRP concentration.
  • To confirm findings using independent datasets and advanced genetic analysis methods.

Main Methods:

  • Utilized data from the Pharmacogenomics and Risk of Cardiovascular Disease (PARC) study and the Cardiovascular Health Study (CHS).
  • Employed imputation-based methods to combine genotype data from both studies.
  • Tested single nucleotide polymorphisms (SNPs) from the HapMap database to identify associations with CRP phenotype.

Main Results:

  • Independent and confirmatory evidence supports an association between HNF1A gene polymorphisms and plasma CRP concentration.
  • Several SNPs located within a 5 kb region of HNF1A intron 1 showed the strongest association with CRP levels.
  • Imputation-based analyses enhanced the ability to identify associated genetic variants.

Conclusions:

  • Common HNF1A gene variants are associated with variations in plasma CRP concentration.
  • Genetic factors, specifically within the HNF1A gene, contribute to the regulation of CRP levels.
  • These findings contribute to understanding the genetic determinants of inflammation and cardiovascular risk.

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