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Complement factor H Y402H decreases cardiovascular disease risk in patients with familial hypercholesterolaemia

Kristel C M C Koeijvoets1, Simon P Mooijaart, Geesje M Dallinga-Thie

  • 1Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.

European Heart Journal
|December 23, 2008
PubMed

Insights

In patients with familial hypercholesterolaemia, the complement factor H (CFH) Y402H CC genotype was linked to a reduced risk of cardiovascular disease (CVD). This suggests CFH influences CVD development.

Area of Science:

  • Genetics and cardiovascular research
  • Complement system and inflammation biology

Background:

  • The complement system links inflammation and atherogenesis.
  • The Y402H polymorphism in complement factor H (CFH) is implicated in cardiovascular events, but findings are inconsistent.
  • Age of onset may modify the association between CFH Y402H and cardiovascular disease (CVD).

Purpose of the Study:

  • To investigate the influence of the CFH Y402H polymorphism on CVD risk.
  • To assess the role of this genetic variant in a high-risk population with familial hypercholesterolaemia (FH).

Main Methods:

  • A multicentre cohort study of 2,016 unrelated FH patients.
  • Genotyping for the CFH Y402H polymorphism (CC, TC, TT genotypes).
  • Follow-up for cardiovascular events over 95,115 person-years.

Main Results:

  • The CC genotype (homozygous for Y402H) was present in 12.9% of patients.
  • Carriers of the CC genotype showed a significantly decreased risk of CVD (HR 0.67, P=0.003).
  • This association remained significant after adjusting for cardiovascular risk factors and age.

Conclusions:

  • The CFH Y402H variant is inversely associated with CVD susceptibility in FH patients.
  • Complement factor H (CFH) may act as a modifier gene in the development of cardiovascular disease.
Abstract

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