Update on the role of genetics in the onset of age-related macular degeneration

Peter James Francis, Michael L KleinMacular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, OR, USAAbstract: Age-related macular degeneration (AMD), akin to other common age-related diseases, has a complex pathogenesis and arises from the interplay of genes,...

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Autores principales:	Francis PJ, Klein ML
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2011
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/eaef431e95384689a9ba4696999bc215
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spelling	oai:doaj.org-article:eaef431e95384689a9ba4696999bc2152021-12-02T10:59:00ZUpdate on the role of genetics in the onset of age-related macular degeneration1177-54671177-5483https://doaj.org/article/eaef431e95384689a9ba4696999bc2152011-08-01T00:00:00Zhttp://www.dovepress.com/update-on-the-role-of-genetics-in-the-onset-of-age-related-macular-deg-a8075https://doaj.org/toc/1177-5467https://doaj.org/toc/1177-5483Peter James Francis, Michael L KleinMacular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, OR, USAAbstract: Age-related macular degeneration (AMD), akin to other common age-related diseases, has a complex pathogenesis and arises from the interplay of genes, environmental factors, and personal characteristics. The past decade has seen very significant strides towards identification of those precise genetic variants associated with disease. That genes encoding proteins of the (alternative) complement pathway (CFH, C2, CFB, C3, CFI) are major players in etiology came as a surprise to many but has already lead to the development of therapies entering human clinical trials. Other genes replicated in many populations ARMS2, APOE, variants near TIMP3, and genes involved in lipid metabolism have also been implicated in disease pathogenesis. The genes discovered to date can be estimated to account for approximately 50% of the genetic variance of AMD and have been discovered by candidate gene approaches, pathway analysis, and latterly genome-wide association studies. Next generation sequencing modalities and meta-analysis techniques are being employed with the aim of identifying the remaining rarer but, perhaps, individually more significant sequence variations, linked to disease status. Complementary studies have also begun to utilize this genetic information to develop clinically useful algorithms to predict AMD risk and evaluate pharmacogenetics. In this article, contemporary commentary is provided on rapidly progressing efforts to elucidate the genetic pathogenesis of AMD as the field stands at the end of the first decade of the 21st century.Keywords: genes, complex disease, susceptibility, AMDFrancis PJKlein MLDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2011, Iss default, Pp 1127-1133 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Francis PJ Klein ML Update on the role of genetics in the onset of age-related macular degeneration
description	Peter James Francis, Michael L KleinMacular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, OR, USAAbstract: Age-related macular degeneration (AMD), akin to other common age-related diseases, has a complex pathogenesis and arises from the interplay of genes, environmental factors, and personal characteristics. The past decade has seen very significant strides towards identification of those precise genetic variants associated with disease. That genes encoding proteins of the (alternative) complement pathway (CFH, C2, CFB, C3, CFI) are major players in etiology came as a surprise to many but has already lead to the development of therapies entering human clinical trials. Other genes replicated in many populations ARMS2, APOE, variants near TIMP3, and genes involved in lipid metabolism have also been implicated in disease pathogenesis. The genes discovered to date can be estimated to account for approximately 50% of the genetic variance of AMD and have been discovered by candidate gene approaches, pathway analysis, and latterly genome-wide association studies. Next generation sequencing modalities and meta-analysis techniques are being employed with the aim of identifying the remaining rarer but, perhaps, individually more significant sequence variations, linked to disease status. Complementary studies have also begun to utilize this genetic information to develop clinically useful algorithms to predict AMD risk and evaluate pharmacogenetics. In this article, contemporary commentary is provided on rapidly progressing efforts to elucidate the genetic pathogenesis of AMD as the field stands at the end of the first decade of the 21st century.Keywords: genes, complex disease, susceptibility, AMD
format	article
author	Francis PJ Klein ML
author_facet	Francis PJ Klein ML
author_sort	Francis PJ
title	Update on the role of genetics in the onset of age-related macular degeneration
title_short	Update on the role of genetics in the onset of age-related macular degeneration
title_full	Update on the role of genetics in the onset of age-related macular degeneration
title_fullStr	Update on the role of genetics in the onset of age-related macular degeneration
title_full_unstemmed	Update on the role of genetics in the onset of age-related macular degeneration
title_sort	update on the role of genetics in the onset of age-related macular degeneration
publisher	Dove Medical Press
publishDate	2011
url	https://doaj.org/article/eaef431e95384689a9ba4696999bc215
work_keys_str_mv	AT francispj updateontheroleofgeneticsintheonsetofagerelatedmaculardegeneration AT kleinml updateontheroleofgeneticsintheonsetofagerelatedmaculardegeneration
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Update on the role of genetics in the onset of age-related macular degeneration

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