{"id":3474,"date":"2018-04-12T12:36:15","date_gmt":"2018-04-12T03:36:15","guid":{"rendered":"http:\/\/www.med.osaka-u.ac.jp\/eng\/?page_id=3474"},"modified":"2022-08-08T11:36:13","modified_gmt":"2022-08-08T02:36:13","slug":"okada-0205-2","status":"publish","type":"page","link":"https:\/\/www.med.osaka-u.ac.jp\/eng\/activities\/results\/2018year\/okada-0205-2","title":{"rendered":"OKADA Yukinori \u226aStatistical Genetics\u226b <span>Strength in numbers: Worldwide study finds new genetic risk factors for stroke<\/span>"},"content":{"rendered":"<ul class=\"linkBar clearfix\">\n<li><a href=\"http:\/\/www.med.osaka-u.ac.jp\/activities\/results\/2018year\/18-03-03-okada\">Text in Japanese<\/a><\/li>\n<\/ul>\n<p>2018-03-13<\/p>\n<p><span class=\"lineFrame\">Publish<\/span> Nature Genetics<\/p>\n<p>Researchers in a large multicenter study develop a comprehensive map of genetic risk factors for stroke and lay the groundwork for more individualized approaches to treatment.<\/p>\n<p class=\"figure\"><img loading=\"lazy\" decoding=\"async\" class=\"alignleft wp-image-3477 size-medium\" src=\"http:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/795316b92fc766b0181f6fef074f03fa-2-400x321.png?_t=1523504234\" alt=\"\" width=\"400\" height=\"321\" srcset=\"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/795316b92fc766b0181f6fef074f03fa-2-400x321.png 400w, https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/795316b92fc766b0181f6fef074f03fa-2-768x617.png 768w, https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/795316b92fc766b0181f6fef074f03fa-2.png 900w\" sizes=\"(max-width: 400px) 100vw, 400px\" \/><a href=\"http:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/795316b92fc766b0181f6fef074f03fa-2.png\"> <span class=\"caption\">Fig.1 Genetic loci identified by the trans-ethnic genome-wide meta-analysis of stroke. (credit: Osaka University) \u00a0 <\/span><span class=\"click\">Click to enlarge<\/span><\/a><\/p>\n<p>Stroke is a serious disease affecting blood flow to and from the brain, and is the second leading cause of death worldwide. Stroke is characterized by a sudden onset of neurological dysfunction, caused by a blood clot or hemorrhage in a cerebral artery. While many genetic variants and lifestyle behaviors have been identified as risk factors for stroke, the genetic basis for the disease is unknown.<\/p>\n<p>Now, in one of the largest multi-institutional studies conducted to date, researchers analyzed the genomes of over half a million individuals across the world to find mutations predicting stroke risk\u2014and to find clues to personalized treatment.<\/p>\n<p>The research team performed a multi-ancestry, genome-wide association study (GWAS) of 67,162 patients who had suffered a stroke, along with 454,450 healthy individuals. The consortium, which consisted of nearly 200 research institutions, leveraged the large sample size to identify genetic differences that would be significantly more difficult to detect in a smaller study.<\/p>\n<p>\u201cThe study was essentially a meta-analysis of several earlier studies,\u201d explains Masahiro Kanai, a genetic statistician from Osaka University who contributed to the data analysis. \u201cOur goal was to use the sheer power of numbers to find new genetic variants linked to different forms of stroke.\u201d<\/p>\n<p>The GWAS compared the genomes of the two groups to uncover mutations that might explain the onset of stroke. The study focused on short nucleotide polymorphisms (SNPs), which are single-letter mutations in the genome that are unique to specific populations or ethnic groups. While SNPs are not always linked to disease, they typically serve as red flags that a person may be predisposed to develop an illness. Moreover, SNPs are often located in or close to genes, which can offer hints to the genetic cause of a disease.<\/p>\n<p>The researchers examined approximately eight million SNPs of the 10 million thought to exist in humans. Previous efforts to identify stroke-related factors had collectively associated 10 SNPs with a greater risk of stroke. The current analysis uncovered 22 more SNPs\u2014more than tripling the number of known genetic risk factors for stroke.<\/p>\n<p>\u201cThe depth of the data allowed us to explore risk factors with an unprecedented level of detail,\u201d Kanai adds. \u201cWe were able to assess how ancestry affects a person\u2019s risk of stroke, for example. We determined how other vascular traits are related to stroke risk, and parsed out which genetic variants are associated with particular kinds of stroke. We even started to probe for some of the more exotic features of a person\u2019s genome, like how proteins decorate the DNA of at-risk patients differently than other individuals.\u201d<\/p>\n<p>The study may have broad implications beyond predicting stroke risk. For one, the findings are likely to advance the theoretical understanding of stroke, as many of the novel risk factors were found to be near genes with no previously known link to stroke. That discovery alone may open new research avenues to unravel the underlying mechanisms of the disease.<\/p>\n<p>Perhaps the most salient finding of the study, however, is that many of the SNPs are linked to genes targeted by therapies that are already used to treat and prevent stroke. The ability of the study to pinpoint known therapeutic targets speaks to its predictive power, and suggests that many of the newly identified genetic variants may become promising new targets for stroke treatment.<\/p>\n<p>\u201cWe\u2019re still far from the reality of personalized medicine, but studies such as this one will go a long way toward getting us there,\u201d notes Yukinori Okada, professor of statistical genetics at Osaka University and a contributing analyst to the project. \u201cImagine a physician being able to pull up a patient\u2019s DNA like a roadmap, and plan out the best treatment route based on their own individual genetic makeup. Our findings are still quite rudimentary in the context of that ideal scenario, but they are an important first step in the process.\u201d<\/p>\n<p>&nbsp;<\/p>\n<p class=\"figure\"><img loading=\"lazy\" decoding=\"async\" class=\"alignleft wp-image-3476 size-medium\" src=\"http:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/2b530e80c7d0de90885e285c5d798063-1-400x334.png?_t=1523504369\" alt=\"\" width=\"400\" height=\"334\" srcset=\"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/2b530e80c7d0de90885e285c5d798063-1-400x334.png 400w, https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/2b530e80c7d0de90885e285c5d798063-1.png 638w\" sizes=\"(max-width: 400px) 100vw, 400px\" \/><a href=\"http:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/2b530e80c7d0de90885e285c5d798063-1.png\">\u00a0<span class=\"caption\">Fig.2 Overlap of the stroke-associated genes among the clinical subtypes of stroke. (credit: Osaka University) \u00a0<br \/><\/span><span class=\"click\">Click to enlarge<\/span><\/a><\/p>\n<p>&nbsp;<\/p>\n<p class=\"figure\"><img loading=\"lazy\" decoding=\"async\" class=\"alignleft wp-image-3475 size-medium\" src=\"http:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/c8856789ec11ab8b1013037cef6929f9-1-400x209.png?_t=1523504454\" alt=\"\" width=\"400\" height=\"209\" srcset=\"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/c8856789ec11ab8b1013037cef6929f9-1-400x209.png 400w, https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/c8856789ec11ab8b1013037cef6929f9-1-768x400.png 768w, https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/c8856789ec11ab8b1013037cef6929f9-1-1024x534.png 1024w, https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/c8856789ec11ab8b1013037cef6929f9-1.png 1692w\" sizes=\"(max-width: 400px) 100vw, 400px\" \/><a href=\"http:\/\/www.med.osaka-u.ac.jp\/eng\/wp-content\/uploads\/2018\/04\/c8856789ec11ab8b1013037cef6929f9-1.png\"><span class=\"click\"> Click to enlarge<\/span><\/a><\/p>\n<p>&nbsp;<\/p>\n<p><b>\u00a0<\/b><\/p>\n<p><strong>The Article<\/strong>: \u201cMultiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes,\u201d was published in Nature Genetics at DOI: 10.1038\/s41588-018-0058-3.<\/p>\n<p><strong>Summary<\/strong>:Stroke is the second leading cause of death worldwide, but its genetic basis is unknown. In a large, multicenter effort, researchers performed a genome-wide association study using over half a million individuals to identify risk factors for stroke. The findings of the study nearly triple the number of known genetic risk factors for the disease, and offer potential avenues for novel and more individualized approaches to treatment.<\/p>\n<p><strong>Journal:<\/strong> Nature Genetics<\/p>\n<p><strong>Article<\/strong>: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes<\/p>\n<p><strong>DOI<\/strong>: 10.1038\/s41588-018-0058-3<\/p>\n<p><strong>Funding<\/strong>: Ministry of Education, Culture, Sports, Science, and Technology (MEXT) \/ Japan Agency for Medical Research and Development(AMED) \/ Ministry of Health, Welfare, and Labour<\/p>\n<p><strong>Primary Keyword<\/strong>: Medicine\/Health<\/p>\n<p><strong>Additional Keywords<\/strong>: Cardiology, Stroke, Diagnostics<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Text in Japanese 2018-03-13 Publish Nature Genetics Researchers in a large multicenter study develop a compreh [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":3476,"parent":3238,"menu_order":183,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"_links":{"self":[{"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/pages\/3474"}],"collection":[{"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/comments?post=3474"}],"version-history":[{"count":12,"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/pages\/3474\/revisions"}],"predecessor-version":[{"id":7437,"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/pages\/3474\/revisions\/7437"}],"up":[{"embeddable":true,"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/pages\/3238"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/media\/3476"}],"wp:attachment":[{"href":"https:\/\/www.med.osaka-u.ac.jp\/eng\/wp-json\/wp\/v2\/media?parent=3474"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}