Author/Authors :
Nazari Khanamiri, Hossein Eye Research Center - Rassoul Akram Hospital - Iran University of Medical Sciences, Tehran, Iran , Ghasemi Falavarjani, Khalil Eye Research Center - Rassoul Akram Hospital - Iran University of Medical Sciences, Tehran, Iran , Sanati, Mohammad Hossein National Institute for Genetic Engineering and Biotechnology, Tehran, Iran , Aryan, Hajar National Institute for Genetic Engineering and Biotechnology, Tehran, Iran , Irani, Alireza Eye Research Center - Rassoul Akram Hospital - Iran University of Medical Sciences, Tehran, Iran , Hashemi, Masih Eye Research Center - Rassoul Akram Hospital - Iran University of Medical Sciences, Tehran, Iran , Modarres, Mehdi Eye Research Center - Rassoul Akram Hospital - Iran University of Medical Sciences, Tehran, Iran , Parvaresh, Mohammad Mehdi Eye Research Center - Rassoul Akram Hospital - Iran University of Medical Sciences, Tehran, Iran , Nikeghbali, Aminollah Eye Research Center - Rassoul Akram Hospital - Iran University of Medical Sciences, Tehran, Iran
Abstract :
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.
