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Human Molecular Genetics Advance Access originally published online on June 18, 2007
Human Molecular Genetics 2007 16(16):1986-1992; doi:10.1093/hmg/ddm146
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© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration

Kylee L. Spencer1, Michael A. Hauser3, Lana M. Olson1, Silke Schmidt3, William K. Scott5, Paul Gallins5, Anita Agarwal2, Eric A. Postel4, Margaret A. Pericak-Vance5 and Jonathan L. Haines1,*

1 Center for Human Genetics Research, 2 Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA, 3 Center for Human Genetics, 4 Department of Ophthalmology, Duke University Eye Center, Duke University Medical Center, Durham, NC, USA and 5 Institute for Human Genomics, University of Miami, Miami, FL, USA

* To whom correspondence should be addressed. Tel: +1 6153435851; Fax: +1 6153438619; Email: Jonathan{at}chgr.mc.vanderbilt.edu

Received April 16, 2007; Revised June 5, 2007; Accepted June 5, 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 (r2=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.


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