{"id":5590,"date":"2011-03-09T21:39:41","date_gmt":"2011-03-09T19:39:41","guid":{"rendered":"http:\/\/www.wjst.de\/blog\/?p=5590"},"modified":"2011-03-09T21:42:42","modified_gmt":"2011-03-09T19:42:42","slug":"50-of-all-disease-genes-found-really","status":"publish","type":"post","link":"https:\/\/www.wjst.de\/blog\/sciencesurf\/2011\/03\/50-of-all-disease-genes-found-really\/","title":{"rendered":"50% of all disease genes found, really?"},"content":{"rendered":"<p>I have been reading now many times in nature genetics that a few newly found SNPs explain about half of the attributable risk by genes while I fear that this probably mixes up different epidemiological concepts.<br \/>\nThe population\u00a0attributable risk is usually defined as the reduction in incidence that would be observed if the population were entirely unexposed. This cannot be meant as I don&#8217;t know of any genetic study examining incidence so far.<!--more--><br \/>\nMaybe it&#8217;s the etiologic fraction? Given as the proportion of the cases that the exposure had played a causal role in its development?\u00a0Also this cannot be meant as usually everybody has his own combination of SNPs; any other combination may not be causal at all.<br \/>\nFinally, it is probably something like explained variation \u00a0(the proportion to which a regression model accounts for the variation \u00a0of a given data set). Sorry, and here comes my discomfort, this measure CANNOT BE EQUALED to 50% of the genes found responsible for a disease. There are two reasons, the first is obvious and already in Wikipedia<\/p>\n<blockquote><p>\nThus\u00a0<em>R<\/em><sup>2<\/sup> gives the &#8216;percentage of variance explained&#8217; by the regression, an expression that, for most social scientists, is of doubtful meaning but great rhetorical value. If this number is large, the regression gives a good fit, and there is little point in searching for additional variables.\n<\/p><\/blockquote>\n<p>My second argument is rather obvious too: Nobody knows what these associated SNPs are tagging. Really a gene in physical proximity? Or just a particular binding site operated by one or several transcription factors? Or is it spurious stratification? Or just a chance finding?<br \/>\nWe will see, what this &#8216;explained variance&#8217; really means in terms of biology. At least, definitely not what all these nature genetics papers want you to tell every month.<\/p>\n\n<p>&nbsp;<\/p>\n<div class=\"bottom-note\">\n  <span class=\"mod1\">CC-BY-NC Science Surf , accessed 13.04.2026<\/span>\n <\/div>","protected":false},"excerpt":{"rendered":"<p>I have been reading now many times in nature genetics that a few newly found SNPs explain about half of the attributable risk by genes while I fear that this probably mixes up different epidemiological concepts. The population\u00a0attributable risk is usually defined as the reduction in incidence that would be observed if the population were &hellip; <a href=\"https:\/\/www.wjst.de\/blog\/sciencesurf\/2011\/03\/50-of-all-disease-genes-found-really\/\" class=\"more-link\">Continue reading <span class=\"screen-reader-text\">50% of all disease genes found, really?<\/span> <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[2],"tags":[1573,67],"class_list":["post-5590","post","type-post","status-publish","format-standard","hentry","category-genetics-biology","tag-genetic-epidemiology","tag-genetic_testing"],"_links":{"self":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/5590","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/comments?post=5590"}],"version-history":[{"count":4,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/5590\/revisions"}],"predecessor-version":[{"id":5594,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/5590\/revisions\/5594"}],"wp:attachment":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/media?parent=5590"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/categories?post=5590"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/tags?post=5590"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}