Abstract | PURPOSE: To evaluate the possible synergistic effect of at risk genotypes of ARMS2/LOC387715 (A69S), DNA repair SMUG1 rs3087404, CCL2-2518, C3 (R102G), CFH Y402H, complement factor B (L9H), and complement factor I ( CFI) (G119R) in advanced age-related macular degeneration compared to those of healthy controls. Elucidation of synergistic effects between different genetic loci may clarify their pathogenetic pathways. METHODS: We calculated relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP), and synergy index (S) to estimate the additive or supra-additive effects of the mentioned genotypes. RESULTS: ARMS2-CFH [RERI = 4.78 (95% CI 2.17-10.61), AP = 0.65 (95% CI 0.33-0.83), S = 4.11 (95% CI 1.40-12.06)], and CFH-C3 combinations [RERI = 2.71 (95% CI 0.04-7.01) AP = 0.47 (95% CI -0.03-0.7) S = 2.30 (95%CI 0.97-5.45)] have the most significant levels of synergism and C3-CFI combination [RERI = -1.65 (95%CI -4.34-0.06), AP = -0.92(95%CI -3.09 - -0.09), S = 0.32 (95%CI 0.09 = 1.20)] has the most significant level of antagonism. CONCLUSION: Among different genotype combinations ARMS2-CFH and CFH-C3 combinations have the most significant levels of synergism and C3-CFI combination has the most significant level of antagonism in AMD patients.
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Authors | Mortaza Bonyadi, Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri, Masoud Soheilian |
Journal | Ophthalmic genetics
(Ophthalmic Genet)
Vol. 39
Issue 2
Pg. 189-193
(04 2018)
ISSN: 1744-5094 [Electronic] England |
PMID | 29087762
(Publication Type: Journal Article)
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Chemical References |
- ARMS2 protein, human
- CCL2 protein, human
- Chemokine CCL2
- Complement C3
- Eye Proteins
- Proteins
- Complement Factor H
- SMUG1 protein, human
- Uracil-DNA Glycosidase
- Complement Factor I
- Complement Factor B
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Topics |
- Aged
- Case-Control Studies
- Chemokine CCL2
(genetics)
- Complement C3
(genetics)
- Complement Factor B
(genetics)
- Complement Factor H
(genetics)
- Complement Factor I
(genetics)
- Eye Proteins
(genetics)
- Female
- Gene Frequency
- Genetic Loci
(genetics)
- Genotype
- Humans
- Macular Degeneration
(genetics)
- Male
- Middle Aged
- Polymorphism, Single Nucleotide
- Proteins
(genetics)
- Uracil-DNA Glycosidase
(genetics)
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