{"id":16052,"date":"2022-07-03T11:59:36","date_gmt":"2022-07-03T04:59:36","guid":{"rendered":"https:\/\/bgrssb.icgbio.ru\/2022\/?p=16052"},"modified":"2022-09-20T10:31:55","modified_gmt":"2022-09-20T03:31:55","slug":"in-silico-determination-of-the-risk-haplotype-for-developing-amd","status":"publish","type":"post","link":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/2022\/07\/03\/in-silico-determination-of-the-risk-haplotype-for-developing-amd\/","title":{"rendered":"In silico determination of the risk haplotype for developing AMD"},"content":{"rendered":"<p><em>by Karpova N.S. | The Institute of General Pathology and Pathophysiology, Moscow, Russia<\/em><\/p>\n<p><strong>Motivation and Aim<\/strong>:<br \/>\nAge-related macular degeneration (AMD) is a multifactorial disease and a prevalent cause of<br \/>\nvisual impairment in developed countries. Risk factors include environmental components<br \/>\nand genetic determinants. 50% or more of the risk of developing AMD is due to mutations in<br \/>\nthe region of 2 genes, CFH and ARMS2\/HTRA1. However, the exact mechanisms of<br \/>\npathology development, in particular the role of mutations in the ARMS2 gene region,<br \/>\nremain not fully understood, as well as the functions of the protein. A number of<br \/>\npolymorphisms related to ARMS2 associated with the risk of developing AMD were<br \/>\nidentified in several GWASs at once . In this regard, we decided to determine the putative<br \/>\nAMD risk haplotype, its prevalence, and compare it with the prevalence of early and late<br \/>\nstages of AMD.<br \/>\n<strong>Results<\/strong>:<br \/>\nAn analysis of the GWAS-catalog and literature made it possible to reduce the number of<br \/>\nstudied polymorphisms to 5 (rs3750846, rs10490924, rs3750847, rs3750848, rs61871744),<br \/>\nsince only they are associated with AMD and are located in the region of the gene itself.<br \/>\nWhen assessing the prevalence of possible haplotypes, a possible AMD risk haplotype was<br \/>\ndetermined, for which the prevalence was 0,1899 or 18,99% (taking into account the AMD<br \/>\nrisk alleles, rs10490924-T and rs3750847-T). his risk haplotype will occur in the<br \/>\nhomozygous state with a frequency of 3,6% (which is close to the prevalence of early AMD<br \/>\n3,5% aged 55\u201359 years) and in the heterozygous state with a frequency of 30,5% (which is 2<br \/>\ntimes higher than the prevalence of late AMD at the age of \u226585 years).<\/p>\n<a href=\"https:\/\/bgrssb.icgbio.ru\/2022\/wp-content\/uploads\/sites\/3\/2022\/07\/In-silico-AMD-risk-haplotype.pdf\" class=\"pdfemb-viewer\" style=\"\" data-width=\"max\" data-height=\"max\"  data-toolbar=\"bottom\" data-toolbar-fixed=\"off\">In silico AMD risk haplotype<br\/><\/a>\n","protected":false},"excerpt":{"rendered":"<p>by Karpova N.S. | The Institute of General Pathology and Pathophysiology, Moscow, Russia Motivation and Aim: Age-related macular degeneration (AMD) is a multifactorial disease and a prevalent cause of visual impairment in developed countries. Risk factors include environmental components and genetic determinants. 50% or more of the risk of developing AMD is due to mutations [&hellip;]<\/p>\n","protected":false},"author":3967,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[12],"tags":[343,341,342,344],"_links":{"self":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/posts\/16052"}],"collection":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/users\/3967"}],"replies":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/comments?post=16052"}],"version-history":[{"count":1,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/posts\/16052\/revisions"}],"predecessor-version":[{"id":16054,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/posts\/16052\/revisions\/16054"}],"wp:attachment":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/media?parent=16052"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/categories?post=16052"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/tags?post=16052"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}