Complement factor H (CFH) is the major fluid-phase regulator of the alternative pathway of complement. It plays a key role in controlling complement activation in vivo. CFH is present in plasma at a concentration of ~500 mg/l and is mainly produced in the liver. Deficiency of CFH results in uncontrolled complement activation, and subsequent susceptibility for pyogenic infections. CFH deficiency leads to an increased susceptibility for type II membranoproliferative glomerulonephritis (MPGN II), implying a unique role for CFH in protecting the kidney from injury. Also, CFH has been shown to fulfill a regulatory role in the development of atherosclerosis.

Common polymorphisms in CFH have been associated with several diseases, including atypical hemolytic uremic syndrome (aHUS) and age-related macular degeneration (AMD). AMD is the leading cause of vision loss in the elderly in Western societies. Several risk factors, including increasing age, cigarette smoking and arterial hypertension, have been identified. Since only a fraction of AMD cases can be fully explained by these risk factors, researchers have searched for genetic factors.

A common polymorphism in CFH (Y402H) was reported to correlate with the risk for developing AMD. Persons homozygous for polymorphic amino acid H402 suffer from an increased risk not only for developing AMD but also for myocardial infarction.

CFH H402 (Cat.# HK353) phenotype indicates increased risk for:

• Age-related macular degeneration (AMD)
• Myocardial infarction
• Cardiovascular disease (atherosclerosis)

“Special features of the immuno-assay”:

• Determines presence of CFH as well as Y402/H402 amino acid variants
• Useful for plasma and serum
• Positive controls are included
• Determination within 1.5 hours

Besides the assay for detection of Y402H polymorphism, Hycult Biotech also offers an ELISA for quantitative measurement of CFH. The relevance of CFH to homeostasis is apparent in patients with CFH deficiency. The majority of CFH-deficient individuals develop renal disease, predominantly haemolytic uraemic syndrome (HUS) and membranoproliferative glomerulonephritis (MPGN).

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