Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations

Patchima Chantaren1, Paisan Ruamviboonsuk1, Mathurose Ponglikitmongkol2, Montip Tiensuwan3, Somying Promso41Department of Ophthalmology, Rajavithi Hospital, Bangkok, 2Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, 3Department of Mathematics, Faculty of Science, Mahidol...

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Autores principales:	Chantaren P, Ruamviboonsuk P, Ponglikitmongkol M, Tiensuwan M, Promso S
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2012
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/1696ba7dc95943a3b2e371e400c0dbf2
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spelling	oai:doaj.org-article:1696ba7dc95943a3b2e371e400c0dbf22021-12-02T00:59:19ZMajor single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations1177-54671177-5483https://doaj.org/article/1696ba7dc95943a3b2e371e400c0dbf22012-03-01T00:00:00Zhttp://www.dovepress.com/major-single-nucleotide-polymorphisms-in-polypoidal-choroidal-vasculop-a9548https://doaj.org/toc/1177-5467https://doaj.org/toc/1177-5483Patchima Chantaren1, Paisan Ruamviboonsuk1, Mathurose Ponglikitmongkol2, Montip Tiensuwan3, Somying Promso41Department 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, ThailandPurpose: 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 association 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 &lt; 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 geneChantaren PRuamviboonsuk PPonglikitmongkol MTiensuwan MPromso SDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2012, Iss default, Pp 465-471 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Chantaren P Ruamviboonsuk P Ponglikitmongkol M Tiensuwan M Promso S Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations
description	Patchima Chantaren1, Paisan Ruamviboonsuk1, Mathurose Ponglikitmongkol2, Montip Tiensuwan3, Somying Promso41Department 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, ThailandPurpose: 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 association 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 &lt; 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
format	article
author	Chantaren P Ruamviboonsuk P Ponglikitmongkol M Tiensuwan M Promso S
author_facet	Chantaren P Ruamviboonsuk P Ponglikitmongkol M Tiensuwan M Promso S
author_sort	Chantaren P
title	Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations
title_short	Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations
title_full	Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations
title_fullStr	Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations
title_full_unstemmed	Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations
title_sort	major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between thai and other asian populations
publisher	Dove Medical Press
publishDate	2012
url	https://doaj.org/article/1696ba7dc95943a3b2e371e400c0dbf2
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_version_	1718403364874616832

Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations

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