Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients

Yasuhiro Ohkuma,1 Takaaki Hayashi,1 Tsutomu Sakai,1 Akira Watanabe,1 Hisashi Yamada,2 Masakazu Akahori,3 Takeshi Itabashi,3 Takeshi Iwata,3 Toru Noda,4 Hiroshi Tsuneoka11Department of Ophthalmology, 2Department of Molecular Genetics, Institute of DNA Medicine, The Jikei University School of Medicin...

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Autores principales:	Ohkuma Y, Hayashi T, Sakai T, Watanabe A, Yamada H, Akahori M, Itabashi T, Iwata T, Noda T, Tsuneoka H
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2013
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/0dcb4de88ea242cd8835b8420bdbe83e
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spelling	oai:doaj.org-article:0dcb4de88ea242cd8835b8420bdbe83e2021-12-02T03:16:58ZRetinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients1177-5483https://doaj.org/article/0dcb4de88ea242cd8835b8420bdbe83e2013-12-01T00:00:00Zhttp://www.dovepress.com/retinal-angiomatous-proliferation-associated-with-risk-alleles-of-arms-a15389https://doaj.org/toc/1177-5483 Yasuhiro Ohkuma,1 Takaaki Hayashi,1 Tsutomu Sakai,1 Akira Watanabe,1 Hisashi Yamada,2 Masakazu Akahori,3 Takeshi Itabashi,3 Takeshi Iwata,3 Toru Noda,4 Hiroshi Tsuneoka11Department of Ophthalmology, 2Department of Molecular Genetics, Institute of DNA Medicine, The Jikei University School of Medicine, 3Division of Molecular and Cellular Biology, National Institute of Sensory Organs, 4Division of Ophthalmology, National Hospital Organization Tokyo Medical Center, Tokyo, JapanBackground: The purpose of this study was to investigate the association between ARMS2/HTRA1, CFH, and C3 gene polymorphisms and retinal angiomatous proliferation (RAP), an infrequent and severe form of exudative age-related macular degeneration, which is characterized by intraretinal neovascularization.Methods: Diagnosis of RAP was based on fundus photographs, images of fluorescein and indocyanine green angiographies, and optical coherence tomography findings. Six single nucleotide polymorphisms (SNPs), A69S (rs10490924) in ARMS2, rs11200638 in HTRA1, I62V (rs800292) in CFH, Y402H (rs1061170) in CFH, R80G (rs2230199) in C3, and rs2241394 in C3, were genotyped in eight Japanese patients with RAP.Results: The two SNPs in the ARMS2/HTRA1 were in complete linkage disequilibrium. The frequency of the risk T allele in ARMS2 (the risk A allele in HTRA1) was 93.8% in the RAP patients. The frequency of homozygosity for the risk genotype TT of ARMS2 (the risk genotype AA of HTRA1) was 87.5%. The frequency of the non-risk allele (A) of I62V was 100%. The frequencies of risk alleles of Y402H, R80G, and rs2241394 were 12.5%, 0%, and 18.8%, respectively.Conclusion: Our results suggest that the risk alleles of the ARMS2/HTRA1 SNPs may be associated with development of RAP and play a major role in the pathogenesis of intraretinal angiogenesis.Keywords: age-related macular degeneration, retinal angiomatous proliferation, single nucleotide polymorphisms, ARMS2/HTRA1 genes, components of the complement systemOhkuma YHayashi TSakai TWatanabe AYamada HAkahori MItabashi TIwata TNoda TTsuneoka HDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2014, Iss default, Pp 143-148 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Ohkuma Y Hayashi T Sakai T Watanabe A Yamada H Akahori M Itabashi T Iwata T Noda T Tsuneoka H Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients
description	Yasuhiro Ohkuma,1 Takaaki Hayashi,1 Tsutomu Sakai,1 Akira Watanabe,1 Hisashi Yamada,2 Masakazu Akahori,3 Takeshi Itabashi,3 Takeshi Iwata,3 Toru Noda,4 Hiroshi Tsuneoka11Department of Ophthalmology, 2Department of Molecular Genetics, Institute of DNA Medicine, The Jikei University School of Medicine, 3Division of Molecular and Cellular Biology, National Institute of Sensory Organs, 4Division of Ophthalmology, National Hospital Organization Tokyo Medical Center, Tokyo, JapanBackground: The purpose of this study was to investigate the association between ARMS2/HTRA1, CFH, and C3 gene polymorphisms and retinal angiomatous proliferation (RAP), an infrequent and severe form of exudative age-related macular degeneration, which is characterized by intraretinal neovascularization.Methods: Diagnosis of RAP was based on fundus photographs, images of fluorescein and indocyanine green angiographies, and optical coherence tomography findings. Six single nucleotide polymorphisms (SNPs), A69S (rs10490924) in ARMS2, rs11200638 in HTRA1, I62V (rs800292) in CFH, Y402H (rs1061170) in CFH, R80G (rs2230199) in C3, and rs2241394 in C3, were genotyped in eight Japanese patients with RAP.Results: The two SNPs in the ARMS2/HTRA1 were in complete linkage disequilibrium. The frequency of the risk T allele in ARMS2 (the risk A allele in HTRA1) was 93.8% in the RAP patients. The frequency of homozygosity for the risk genotype TT of ARMS2 (the risk genotype AA of HTRA1) was 87.5%. The frequency of the non-risk allele (A) of I62V was 100%. The frequencies of risk alleles of Y402H, R80G, and rs2241394 were 12.5%, 0%, and 18.8%, respectively.Conclusion: Our results suggest that the risk alleles of the ARMS2/HTRA1 SNPs may be associated with development of RAP and play a major role in the pathogenesis of intraretinal angiogenesis.Keywords: age-related macular degeneration, retinal angiomatous proliferation, single nucleotide polymorphisms, ARMS2/HTRA1 genes, components of the complement system
format	article
author	Ohkuma Y Hayashi T Sakai T Watanabe A Yamada H Akahori M Itabashi T Iwata T Noda T Tsuneoka H
author_facet	Ohkuma Y Hayashi T Sakai T Watanabe A Yamada H Akahori M Itabashi T Iwata T Noda T Tsuneoka H
author_sort	Ohkuma Y
title	Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients
title_short	Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients
title_full	Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients
title_fullStr	Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients
title_full_unstemmed	Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients
title_sort	retinal angiomatous proliferation associated with risk alleles of arms2/htra1 gene polymorphisms in japanese patients
publisher	Dove Medical Press
publishDate	2013
url	https://doaj.org/article/0dcb4de88ea242cd8835b8420bdbe83e
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Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients

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