TY - JOUR
T1 - Complement factor H Y402H and LOC387715 A69S polymorphisms in association with age-related macular degeneration in Iran
AU - Khanamiri, Hossein Nazari
AU - Falavarjani, Khalil Ghasemi
AU - Sanati, Mohammad Hossein
AU - Aryan, Hajar
AU - Irani, Alireza
AU - Hashemi, Masih
AU - Modarres, Mehdi
AU - Parvaresh, Mohammad Mehdi
AU - Nikeghbali, Aminollah
PY - 2014
Y1 - 2014
N2 - Purpose: To determine the frequency of complement factor H (Y402H) and age related macular degeneration susceptibility gene 2 (A69S) single nucleotide polymorphisms in patients with age-related macular degeneration (AMD) and in matched non-AMD controls in an Iranian population. Methods: Seventy patients with AMD and 86 age- and sex-matched controls were recruited and examined. Peripheral blood sample was obtained from all subjects for DNA extraction and direct sequencing of Y402H and A69S genes. Odds ratios (ORs) with 95% confidence intervals (CIs) for the association of Y402H and A69S polymorphisms with AMD were determined.Results: The frequencies of both homozygous and heterozygous genotypes were significantly higher in cases than controls for both Y402H and A69S polymorphisms. In comparison to the wild genotypes, OR for AMD associated with Y402H and A69S polymorphisms were 1.9 (95% CI, 1.1-3.2) and 2.2 (95%CI, 1.6-3.1), respectively. Joint risk analysis considering both genes revealed a higher risk of AMD when polymorphisms were present for both genes.Conclusion: Y402H and A69S polymorphisms were strongly associated with AMD in this Iranian population.
AB - Purpose: To determine the frequency of complement factor H (Y402H) and age related macular degeneration susceptibility gene 2 (A69S) single nucleotide polymorphisms in patients with age-related macular degeneration (AMD) and in matched non-AMD controls in an Iranian population. Methods: Seventy patients with AMD and 86 age- and sex-matched controls were recruited and examined. Peripheral blood sample was obtained from all subjects for DNA extraction and direct sequencing of Y402H and A69S genes. Odds ratios (ORs) with 95% confidence intervals (CIs) for the association of Y402H and A69S polymorphisms with AMD were determined.Results: The frequencies of both homozygous and heterozygous genotypes were significantly higher in cases than controls for both Y402H and A69S polymorphisms. In comparison to the wild genotypes, OR for AMD associated with Y402H and A69S polymorphisms were 1.9 (95% CI, 1.1-3.2) and 2.2 (95%CI, 1.6-3.1), respectively. Joint risk analysis considering both genes revealed a higher risk of AMD when polymorphisms were present for both genes.Conclusion: Y402H and A69S polymorphisms were strongly associated with AMD in this Iranian population.
KW - Age-related macular degeneration
KW - Complement factor polymorphism
KW - Gene
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M3 - Article
AN - SCOPUS:84905514893
VL - 9
SP - 181
EP - 187
JO - Journal of Ophthalmic and Vision Research
JF - Journal of Ophthalmic and Vision Research
SN - 2008-2010
IS - 2
ER -