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Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against

Gregory S Hageman1,2, Lisa S Hancox1, Andrew J Taiber1

  • 1a Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, Iowa.

Annals of Medicine
|September 28, 2017
PubMed

Insights

A common deletion of CFHR1 and CFHR3 genes is linked to age-related macular degeneration (AMD). This finding refines understanding of complement factor H (CFH) gene associations with AMD and suggests a role in innate immunity.

Area of Science:

  • Genetics
  • Immunology
  • Ophthalmology

Background:

  • Complement factor H (CFH) gene variants are associated with age-related macular degeneration (AMD).
  • The CFH gene and five related genes (CFHR1-5) are located in the regulators of complement activation (RCA) locus on chromosome 1q32.

Purpose of the Study:

  • To refine the structural and evolutionary relationships between CFH-related genes and AMD.
  • Utilized a combined genetic, molecular, and immunohistochemical approach.

Main Methods:

  • Identification and characterization of a common deletion encompassing CFHR1 and CFHR3 genes.
  • Genotyping of AMD cases and controls from two cohorts.
  • Analysis of CFHR1 and CFHR3 transcript abundance in ocular and liver tissues.

Main Results:

  • A large deletion of CFHR1 and CFHR3 genes was identified, leading to the absence of CFHR1 protein in homozygous individuals.
  • Deletion homozygotes were found in 1.1% of AMD cases and 5.7% of controls.
  • CFHR1 and CFHR3 transcripts were abundant in the liver but not detected in the ocular tissues.

Conclusions:

  • The absence of CFHR1 and/or CFHR3 may explain the protective effects of certain CFH haplotypes.
  • High frequencies of the 402H allele and delCFHR1/CFHR3 alleles in African populations suggest ancient origins.
  • Genetic diversity at the RCA locus may result from selection, indicating a role for CFHR genes in innate immunity.
Abstract

Keywords:
Age‐related macular degenerationalternative pathwaycomplementdeletionevolutionfactor Hfactor H‐relatedhaplotypevision

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