An international group of researchers has discovered seven new regions of the human genome\u2014called loci\u2014associated with increased risk of age-related macular degeneration (AMD), a leading cause of blindness. The Centre for Eye Research Australia and Westmead Millennium Institute for Medical Research are the only Australian institutes to be included in the AMD Gene Consortium, a network of international investigators representing 18 research groups.<\/p>\n
The findings are reported online today in the journal Nature Genetics. This study represents the most comprehensive\u00a0genome-wide analysis of genetic variations associated with AMD to date.<\/p>\n
\u201cThis compelling analysis by the AMD Gene Consortium demonstrates the enormous value of effective collaboration,\u201d said\u00a0US-based National Eye Institute Director Paul A. Sieving, M.D., Ph.D.<\/p>\n
\u201cCombining data from multiple studies, this international effort provides insight into the molecular basis of AMD, which will\u00a0help researchers search for causes of the disease and will inform future development of new diagnostic and treatment\u00a0strategies.\u201d<\/p>\n
AMD affects the macula, a region of the retina responsible for central vision. The retina is the layer of light-sensitive tissue\u00a0in the back of the eye. As AMD progresses, tasks such as reading, driving, and recognising faces become more difficult\u00a0and eventually impossible. Some kinds of AMD are treatable if detected early, but no cure exists. An estimated one in\u00a0seven Australians over the age of 50 is affected by AMD.<\/p>\n
Scientists have shown that age, diet, and smoking influence a person\u2019s risk of developing AMD. Genetics also play a strong\u00a0role. AMD often runs in families and is more common among certain ethnicities, such as Asians and people of European\u00a0descent.<\/p>\n
The AMD Gene Consortium combined data from 18 research groups to increase the power of prior analyses. The current\u00a0analysis identified seven new loci near genes and confirmed 12 loci identified in previous studies. All of these loci are\u00a0scattered throughout the genome on many different chromosomes.<\/p>\n
The consortium\u2019s analysis included data from more than 17,100 people with the most advanced and severe forms of AMD,\u00a0which were compared to data from more than 60,000 people without AMD. The 19 loci that were found to be associated\u00a0with AMD implicate a variety of biological functions, including regulation of the immune system, maintenance of cellular\u00a0structure, growth and permeability of blood vessels, lipid metabolism, and atherosclerosis.<\/p>\n
\u201cWhile these findings certainly reinforce the notion that there is an important immunological aspect to this disease, it also\u00a0indicates that a range of other biological pathways are involved,\u201d said Associate Professor Paul Baird, one of the co-authors\u00a0of the paper from the Centre for Eye Research Australia.<\/p>\n
\u201cThis will allow us to develop new treatments that can be used to tackle the disease from different angles with the ultimate\u00a0aim of translating these findings into improved treatments for patients.\u201d<\/p><\/blockquote>\n
As with other common diseases, such as type 2 diabetes, an individual person\u2019s risk for getting AMD is likely determined\u00a0not by one but many genes. Further comprehensive DNA analysis of the areas around the 19 loci identified by the AMD\u00a0Gene Consortium could turn up undiscovered rare genetic variants with a disproportionately large effect on AMD risk.<\/p>\n
Discovery of such genes could greatly advance scientists\u2019 understanding of AMD pathogenesis and their quest for more\u00a0effective treatments.<\/p>\n","protected":false},"excerpt":{"rendered":"
An international group of researchers has discovered seven new regions of the human genome\u2014called loci\u2014associated with increased risk of age-related macular degeneration (AMD), a leading cause of blindness. The Centre for Eye Research Australia and Westmead Millennium Institute for Medical Research are the only Australian institutes to be included in the AMD Gene Consortium, a […]<\/p>\n","protected":false},"featured_media":2446,"parent":0,"menu_order":0,"template":"","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}}},"categories":[19],"class_list":["post-2486","news","type-news","status-publish","has-post-thumbnail","hentry","category-cat-news"],"acf":[],"_links":{"self":[{"href":"https:\/\/wimr.org.au\/wp-json\/wp\/v2\/news\/2486","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/wimr.org.au\/wp-json\/wp\/v2\/news"}],"about":[{"href":"https:\/\/wimr.org.au\/wp-json\/wp\/v2\/types\/news"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/wimr.org.au\/wp-json\/wp\/v2\/media\/2446"}],"wp:attachment":[{"href":"https:\/\/wimr.org.au\/wp-json\/wp\/v2\/media?parent=2486"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/wimr.org.au\/wp-json\/wp\/v2\/categories?post=2486"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}