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Protective effect of complement factor B and complement component 2 variants 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
August 15, 2007

Age-related macular degeneration (AMD) is a devastating disorder of the central retina, causing significant visual impairment for 7.5 million elderly Americans. Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the complement factor H gene is a recognized risk factor for AMD, as is the A69S variant in the poorly characterized LOC387715 gene. Recently, polymorphisms in the factor B (CFB) and complement component 2 (CC2) genes were associated with decreased susceptibility to AMD. To validate this association in independent family-based and case-control Caucasian data sets, we genotyped two single-nucleotide polymorphisms (SNPs) in CC2 and four SNPs in CFB. The R32Q variant of CFB was significantly associated with protection from AMD in the family-based data set (P = 0.025). Three SNPs in CC2 and CFB were strongly associated with decreased risk of AMD in the case-control data set (CC2 E318D: P = 0.02; CC2 rs547154: P = 9 x 10(-6); and CFB R32Q P = 2 x 10(-5)). The minor alleles at CC2 rs547154 and CFB R32Q are present in 4% of cases versus 10% of controls, and as these SNPs are in strong linkage disequilibrium (r(2)=0.92), these results likely represent the same protective signal. After controlling for age, Y402H, A69S and smoking, the effect of CFB R32Q remained quite strong (OR 0.21, 95% confidence interval 0.11-0.39; P < 10(-4)). Likelihood ratio testing and conditional analyses in the case-control data set suggest that a weaker, independent protective effect exists for CC2 E318D.

Duke Scholars

Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

August 15, 2007

Volume

16

Issue

16

Start / End Page

1986 / 1992

Location

England

Related Subject Headings

  • Smoking
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Male
  • Macular Degeneration
  • Linkage Disequilibrium
  • Humans
  • Genotype
  • Genetics & Heredity
  • Genetic Predisposition to Disease
 

Citation

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Spencer, K. L., Hauser, M. A., Olson, L. M., Schmidt, S., Scott, W. K., Gallins, P., … Haines, J. L. (2007). Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet, 16(16), 1986–1992. https://doi.org/10.1093/hmg/ddm146
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. “Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.Hum Mol Genet 16, no. 16 (August 15, 2007): 1986–92. https://doi.org/10.1093/hmg/ddm146.
Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, et al. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet. 2007 Aug 15;16(16):1986–92.
Spencer, Kylee L., et al. “Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.Hum Mol Genet, vol. 16, no. 16, Aug. 2007, pp. 1986–92. Pubmed, doi:10.1093/hmg/ddm146.
Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet. 2007 Aug 15;16(16):1986–1992.
Journal cover image

Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

August 15, 2007

Volume

16

Issue

16

Start / End Page

1986 / 1992

Location

England

Related Subject Headings

  • Smoking
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Male
  • Macular Degeneration
  • Linkage Disequilibrium
  • Humans
  • Genotype
  • Genetics & Heredity
  • Genetic Predisposition to Disease