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Y. Chen, C. Zhao, B. Li, X. Sun, Z. Yang, K. Zhang; Evaluation on the Association of the Variants in Complement Component 5 Gene and Age Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3440.
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Dysregulation of complement cascade has been implicated in the pathogenetic mechanisms of age related macular degeneration (AMD). Significant association between AMD and several complement associated genes including complement factor H (CFH), complement component 2 (C2), complement component 3 (C3), and complement factor B (CFB) were demonstrated. Complement component 5 (C5) is a key regulator of final pathway of complement cascade. The aim of this study is to evaluate the association of variants in C5 and AMD.
Unrelated AMD patients (n=335), including neovascular AMD (n=171) and Geographic Atrophy (n=164), and age-matched control subjects (n=186) were analyzed for six single nucleotide polymorphisms (SNPs) in C5: rs10733650, rs2416811, rs7031128, rs3815467, rs17216529, rs10739585, rs17611. SNPs were selected with minor allele frequency (MAF) >5% in Caucasian population. Genotyping was undertaken on a multiplexed SNaPshot technology platform (ABI). Association analysis was performed using Pearson’s X2 test.
All SNPs showed similar allele frequencies in both cases and controls. No statistic significant association was observed between C5 and AMD: rs10733650 (MAF=0.42 in case and 0.41 in control, Pallele=0.68), rs2416811 (MAF= 0.44 in case and 0.45 in control, Pallele =0.77), rs7031128 (MAF=0.23 in case and 0.22 in control, Pallele =0.55), rs3815467 (MAF=0.20 in case and 0.22 in control, Pallele =0.38), rs17216529 (MAF=0.06 in case and 0.08 in control, Pallele =0.20), rs10739585 (MAF=0.24 in case and 0.26 in control, Pallele =0.36). Subgroup analysis did not show any association either when comparing neovascular AMD and Geographic Atrophy with controls separately.
In our preliminary analysis of a small cohort of patients, variations in C5 do not contribute to a major risk of AMD. Genotyping more SNPs with better coverage and investigation of possible allelic and haplotype interactions may further clarify the role of C5 in AMD risk.
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