Clinical Ophthalmology Open Access Full Text Article Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations Dovepress open access to scientific and medical research O R i g i n A L R E S E A R C H Patchima Chantaren1 Paisan Ruamviboonsuk1 Mathurose Ponglikitmongkol2 Montip Tiensuwan3 Somying Promso4 1Department of Ophthalmology, Rajavithi Hospital, Bangkok, 2Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, 3Department of Mathematics, Faculty of Science, Mahidol University, Bangkok, 4Virology and Molecular Microbiology Unit, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand Correspondence: Paisan Ruamviboonsuk Department of Ophthalmology, Rajavithi Hospital, Bangkok 10400, Thailand Tel +66 2 644 7000 ext 2810 Email paisan.trs@gmail.com submit your manuscript | www.dovepress.com Dovepress http://dx.doi.org/10.2147/OPTH.S30529 Purpose: To investigate the association in a Thai population between the major age-related macular degeneration (AMD) susceptibility loci, Y402H and I62V in the complement factor H (CFH) and A69S in the age-related maculopathy susceptibility 2 (ARMS2) genes, and polypoidal choroidal vasculopathy (PCV). Methods: A case-control study included 97 PCV cases and 102 age- and gender-matched controls without any retinopathy. The genotypic profiles of the three polymorphisms were obtained using a real-time polymerase chain reaction assay. The allelic and genotypic associa- tion between the polymorphisms and PCV were compared with those from the compiled data of other Asian populations reported previously. Results: Strong associations between the Y402H, I62V, and A69S polymorphisms and PCV were observed in the present study (P = 0.002, 0.003, and 0.0008 respectively) and in the compiled data (P , 0.0001 for all three polymorphisms). The risk allele frequencies of the polymorphisms in PCVs and in controls from the present study (15.0% and 5.4% for Y402H, 71.7% and 57.4% for I62V, and 54.1% and 37.3% for A69S respectively) were also comparable with the frequencies from the compiled data (10.3% and 6.4% for Y402H, 75.2% and 58.3% for I62V, and 56.8% and 36.8% for A69S respectively). The genotype distribution for each polymorphism was also comparable in both datasets. Conclusion: The findings of this study support a significant genetic association between the major AMD susceptibility genes and PCV across Asian populations. This suggests that AMD and PCV, despite different phenotypic manifestation, may share common genetic risk factors. Keywords: genetic, association, PCV, age-related macular degeneration, CFH gene, ARMS2 gene Introduction A significant association between single nucleotide polymorphisms (SNP) and age-related macular degeneration (AMD) has been reported in diverse populations worldwide.1 The two most common AMD-associated SNPs, the Y402H polymorphism in the complement factor H (CFH) gene on chromosome 1q31 and the A69S polymorphism in the age-related maculopathy susceptibility 2 (ARMS2) gene on chromosome 10q26, have been found in Caucasian and Asian populations.2,3 The phenotypic manifestation of AMD in a large number of Asian patients, however, are different from those in Caucasian patients.4 A variant of the neovascular form of AMD in Asians, known as polypoidal choroidal vasculopathy (PCV), has typical characteris- tics of an abnormal branching vascular network with terminal polypoidal bulbs in inner choroids, which are not commonly found in Caucasians.5 This has raised a question of whether genotypic manifestations of PCV are different from those of AMD. Clinical Ophthalmology 2012:6 465–471 465 © 2012 Chantaren et al, publisher and licensee Dove Medical Press Ltd. This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited.