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Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.

Publication ,  Journal Article
Spencer, KL; Hauser, MA; Olson, LM; Schmidt, S; Scott, WK; Gallins, P; Agarwal, A; Postel, EA; Pericak-Vance, MA; Haines, JL
Published in: Hum Mol Genet
April 1, 2008

Age-related macular degeneration (AMD) impairs vision for approximately 7.5 million Americans. Both susceptibility variants and protective haplotypes in the complement factor H (CFH) gene modulate risk for AMD. Recently, deletion of the 'CFH-related' genes CFHR1 and CFHR3 was found to be segregating with a particular CFH haplotype, which reduced the risk of AMD. We tested the deletion for association in a Caucasian population of 780 cases and 265 controls and examined its effect in the context of known AMD risk factors. The deletion did not segregate perfectly with any one SNP, as previously suggested. CFH haplotype P2 was the most frequent haplotype in deletion homozygotes (47%), and the majority (14/16) of these individuals were homozygous for the non-risk allele of Y402H. Overall, deletion homozygosity was significantly more frequent in controls than cases (2.6% controls, 0.8% cases, P = 0.025, OR = 0.29, 95% CI = 0.10-0.86). After controlling for age, Y402H, smoking and LOC387715 A69S, the protective effect of the deletion was no longer statistically significant (P = 0.27). However, using a CFH haplotype that all deletion homozygotes share as a surrogate for the deletion, this marker remained modestly associated with AMD after adjustment for known risk factors (OR = 0.63, 95% CI 0.39-1.04, P = 0.07). Therefore, deletion of CFHR1 and CFHR3 may account for a small portion of the protection from AMD associated with particular haplotypes in CFH. The presence of protective haplotypes in CFH that do not carry the deletion, suggests that other protective variants in this region have yet to be discovered.

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Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

April 1, 2008

Volume

17

Issue

7

Start / End Page

971 / 977

Location

England

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Middle Aged
  • Male
  • Macular Degeneration
  • Logistic Models
  • Linkage Disequilibrium
  • Humans
  • Homozygote
  • Haplotypes
 

Citation

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Spencer, K. L., Hauser, M. A., Olson, L. M., Schmidt, S., Scott, W. K., Gallins, P., … Haines, J. L. (2008). Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet, 17(7), 971–977. https://doi.org/10.1093/hmg/ddm369
Spencer, Kylee L., Michael A. Hauser, Lana M. Olson, Silke Schmidt, William K. Scott, Paul Gallins, Anita Agarwal, Eric A. Postel, Margaret A. Pericak-Vance, and Jonathan L. Haines. “Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.Hum Mol Genet 17, no. 7 (April 1, 2008): 971–77. https://doi.org/10.1093/hmg/ddm369.
Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, et al. Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet. 2008 Apr 1;17(7):971–7.
Spencer, Kylee L., et al. “Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.Hum Mol Genet, vol. 17, no. 7, Apr. 2008, pp. 971–77. Pubmed, doi:10.1093/hmg/ddm369.
Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL. Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet. 2008 Apr 1;17(7):971–977.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

April 1, 2008

Volume

17

Issue

7

Start / End Page

971 / 977

Location

England

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Middle Aged
  • Male
  • Macular Degeneration
  • Logistic Models
  • Linkage Disequilibrium
  • Humans
  • Homozygote
  • Haplotypes