Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population.

Abstract

PURPOSE:

To determine whether genetic variants in the complement component 2 and factor B gene (C2/CFB) locus are associated with the risk for typical age-related macular degeneration (AMD) or polypoidal choroidal vasculopathy (PCV) in a Japanese population.

METHODS:

Four single nucleotide polymorphisms (SNPs) were genotyped across the C2/CFB locus of patients with typical AMD (n = 455) or PCV (n = 581) and of 865 controls. Differences in the observed genotypic distribution between the case and control groups were tested by logistic regression analysis for age and sex adjustments. Significant associations were confirmed using a second control group of 336 cataract patients. A further model adjusting for age-related maculopathy susceptibility 2 (ARMS2) A69S, complement factor H (CFH) I62V, age, sex and smoking status was performed, to confirm their independent association from other covariates.

RESULTS:

C2 rs547154 and CFB rs541862 were significantly associated with typical AMD and PCV in this Japanese sample (P < 0.05). These two SNPs were also significantly associated with typical AMD and PCV in evaluation of the second control cohort (P < 0.05). Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV with age, sex, smoking, and genetic background of ARMS2 A69S and CFH I62V (vs. typical AMD: P = 0.0073, odds ratio [OR] = 0.47; vs. PCV: P = 0.0083, OR = 0.53).

CONCLUSIONS:

C2/CFB variants play a protective role in the risk of developing neovascular AMD and PCV in the Japanese.

• Authors: Isao Nakata, Kenji Yamashiro, Ryo Yamada, Norimoto Gotoh, Hideo Nakanishi, Hisako Hayashi, Yumiko Akagi-Kurashige, Akitaka Tsujikawa, Atsushi Otani, Masaaki Saito, Tomohiro Iida, Akio Oishi, Keitaro Matsuo, Kazuo Tajima, Fumihiko Matsuda, Nagahisa Yoshimura
• Journal: Investigative ophthalmology & visual science (Invest Ophthalmol Vis Sci) Vol. 53 Issue 2 Pg. 794-8 (Feb 16 2012) ISSN: 1552-5783 [Electronic] United States
• PMID: 22232432 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Complement C2
• DNA
• Complement Factor B

Topics

• Aged
• Choroid (blood supply)
• Choroidal Neovascularization (epidemiology, genetics, metabolism)
• Complement C2 (genetics, metabolism)
• Complement Factor B (genetics, metabolism)
• DNA (genetics)
• Female
• Fluorescein Angiography
• Fundus Oculi
• Gene Frequency
• Genetic Predisposition to Disease
• Genotype
• Humans
• Incidence
• Japan (epidemiology)
• Linkage Disequilibrium
• Macular Degeneration (epidemiology, genetics, metabolism)
• Male
• Middle Aged
• Odds Ratio
• Polymorphism, Single Nucleotide
• Prognosis