{"id":10628,"date":"2015-05-15T14:58:37","date_gmt":"2015-05-15T19:58:37","guid":{"rendered":"https:\/\/college.unc.edu\/?p=10628"},"modified":"2024-07-02T16:07:33","modified_gmt":"2024-07-02T16:07:33","slug":"gtex","status":"publish","type":"post","link":"https:\/\/collegearchive.unc.edu\/?p=10628","title":{"rendered":"New project aims to unlock mechanisms that link genetic variation and disease"},"content":{"rendered":"

\"GTEx_image_pdf_5-15_with<\/a>The Genotype-Tissue Expression (GTEx)<\/a> project, funded by the NIH, is an interdisciplinary, international research effort that includes a team of statistical researchers from UNC-Chapel Hill and NC State. A central aim of the GTEx project is to identify parts of DNA that control the expression of genes in one or more tissues, and whether the genetic instructions they carry affect all tissues, or only a subset of tissues.<\/p>\n

\u201cOur DNA can be thought of as a cookbook that contains recipes for the distinct tissues, like skin, blood, lung, heart and brain, that we all share,\u201d said Andrew Nobel, professor of statistics and operations research<\/a> in UNC\u2019s College of Arts and Sciences, and of biostatistics in the UNC Gillings School of Global Public Health. \u201cUnlike an ordinary cookbook, the recipes in DNA have been broken up into microscopic instructions and spread throughout our genes. Some instructions are unique to specific tissues or tissue groups, while others are shared by most, or all, tissues. Understanding how different genetic instructions are carried out in different tissues is an important scientific problem, and an important first step in understanding mechanisms that link genetic variation and disease.\u201d<\/p>\n

\u201cWe have little understanding of how genetic variants actually cause disease, because we haven\u2019t been able to look at the gene expression part of the equation,\u201d added Nobel\u2019s collaborator Fred Wright, professor of statistics and biological sciences at NC State and an adjunct professor of biostatistics at UNC. \u201cGTEx aims to fill the knowledge gap between the DNA you\u2019re born with and actual disease outcomes.\u201d<\/p>\n

In the initial phase of the GTEx project researchers obtained DNA, and expression measurements of numerous tissues, from 175 recently deceased individuals. Initial investigation established that nearly normal gene activity persists for several hours after death. In subsequent work, Nobel, Wright and their collaborators developed a number of the key computational and statistical methods used by the GTEx consortium to analyze the multi-tissue data. The essential problem was to connect variation in DNA to expression.<\/p>\n

Initial results have been promising.<\/p>\n

\u201cWe found that DNA variants affecting expression tend to do so either in very few tissues or in almost all tissues,\u201d said Nobel. \u201cAs data from more tissues becomes available, we expect a more complex picture to emerge, in which we identify variants affecting the expression of blocks of biologically related tissues.\u201d<\/p>\n

\u201cResearchers within GTEx are now comparing our results, and those of other analysis groups, to existing studies of variant-disease association, with the immediate goal of better identifying variants and genes associated with known ailments such as diabetes, heart disease and schizophrenia,\u201d Nobel added. \u201cA long term goal of the GTEx project is to facilitate personalized (targeted) therapies for these and other diseases.\u201d<\/p>\n

The results appear in the May 8 issue of Science.<\/a><\/em> Funding was provided by the National Institutes of Mental Health and the NIH Common Fund. Read the NIH press release.<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

A new international research project involving UNC and NC State statistical researchers aims to fill the knowledge gap between the DNA you\u2019re born with and actual disease outcomes.<\/p>\n","protected":false},"author":4,"featured_media":10629,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"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":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","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":""}},"footnotes":""},"categories":[17],"tags":[],"class_list":["post-10628","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-natural-sciences-mathematics"],"_links":{"self":[{"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=\/wp\/v2\/posts\/10628","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=10628"}],"version-history":[{"count":1,"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=\/wp\/v2\/posts\/10628\/revisions"}],"predecessor-version":[{"id":47272,"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=\/wp\/v2\/posts\/10628\/revisions\/47272"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=\/wp\/v2\/media\/10629"}],"wp:attachment":[{"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=10628"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=10628"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/collegearchive.unc.edu\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=10628"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}