ORIGINAL PAPER Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population Mortaza Bonyadi . Neda Norouzi . Esmaeil Babaei . Mohammad Hossein Jabbarpoor Bonyadi . Alireza Javadzadeh . Mehdi Yaseri . Masoud Soheilian Received: 11 August 2017 / Accepted: 25 January 2018 Ó Springer Science+Business Media B.V., part of Springer Nature 2018 Abstract Background Age-related macular degeneration (AMD) is a complex disease, and recent studies have shown role of complement system genes in its development. Complement factor I regulates the complement pathways, and relationship between CFI polymorphisms and AMD is controversial. We eval- uated the possible association of complement factor I rs141853578 (G119R) variation with advanced AMD in Iranian patients. Materials and methods We included 371 case– control samples consisting of 220 advanced AMD patients and 151 genetically unrelated healthy con- trols. Extracted DNA samples amplified to obtain fragment including the polymorphic complement factor I rs141853578 (G119R) region. Results The distribution of the genotypes was sig- nificantly different in the AMD patients compared to that of controls (p = 0.035). The TT genotype fre- quencies for CFI were significantly higher in AMD group (7.7 vs. 2%, OR 4.67, CI 1.33–16.45, p = 0.016). This significant difference was maintained after adjustment for the effects of age and gender (OR 5.09, CI 1.42–18.20, p = 0.012). The minor allele frequency (T allele) was also significantly higher in AMD patients compared to that of controls (29.3 vs. 21.5% OR 1.51, CI 1.07–2.13, p = 0.018). Conclusion Current study showed that CFI rs141853578 (G119R) is a risk factor for developing advanced type AMD. This study also suggests that the frequency of G119R polymorphism in our population is not as rare as reported from other populations. Keywords Age-related macular degeneration (AMD) Á Complement factor I (CFI) rs141853578 (G119R) Á Single nucleotide polymorphism Introduction Role of genetic components in age-related macular degeneration (AMD) has been shown in recent years [1–3]. Increasing prevalence of AMD and its delete- rious effect on the life quality highlight the importance of its etiologic components. Strong evidences have shown important role of inflammatory and comple- ment system-related genes in AMD [4–7]. These findings implicate pivotal role of the complement M. Bonyadi Á N. Norouzi Á E. Babaei Center of Excellence for Biodiversity, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran M. H. Jabbarpoor Bonyadi (&) Á M. Yaseri Á M. Soheilian Ocular Tissue Engineering Research Center, Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran e-mail: mhbonyadi@yahoo.com A. Javadzadeh Department of Ophthalmology, Tabriz University of Medical Sciences, Tabriz, Iran 123 Int Ophthalmol https://doi.org/10.1007/s10792-018-0835-0