Complement factor H Y402H and LOC387715 A69S polymorphisms in association with age-related macular degeneration in Iran

Hossein Nazari Khanamiri, Khalil Ghasemi Falavarjani, Mohammad Hossein Sanati, Hajar Aryan, Alireza Irani, Masih Hashemi, Mehdi Modarres, Mohammad Mehdi Parvaresh, Aminollah Nikeghbali

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)181-187
Number of pages7
JournalJournal of Ophthalmic and Vision Research
Volume9
Issue number2
StatePublished - 2014
Externally publishedYes

Keywords

  • Age-related macular degeneration
  • Complement factor polymorphism
  • Gene

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