{"id":45346,"date":"2024-11-13T13:40:20","date_gmt":"2024-11-13T12:40:20","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=45346"},"modified":"2024-11-13T13:42:04","modified_gmt":"2024-11-13T12:42:04","slug":"farmacogenomica-com-lherencia-genetica-modula-lefecte-dels-medicaments","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/farmacogenomica-com-lherencia-genetica-modula-lefecte-dels-medicaments\/","title":{"rendered":"Farmacogen\u00f2mica: com l\u2019her\u00e8ncia gen\u00e8tica modula l\u2019efecte dels medicaments"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">A l\u2019hora de receptar un medicament no se sol tenir en compte la informaci\u00f3 gen\u00e8tica del pacient. Per\u00f2 una defici\u00e8ncia en el gen G6PD, per exemple, pot provocar fatiga o dolors abdominals a qui prengui una simple aspirina.&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Per aix\u00f2 la <strong>farmacogen\u00f2mica <\/strong>&#8211; l\u2019estudi dels efectes dels medicaments segons la gen\u00e8tica dels individus &#8211; \u00e9s actualment un camp emergent. Pot obrir&nbsp;les portes cap a una medicina personalitzada on, en un futur, es podrien realitzar <strong>proves gen\u00e8tiques<\/strong> senzilles <strong>combinades amb <a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/tag\/ia\/\" target=\"_blank\">intel\u00b7lig\u00e8ncia artificial (IA)<\/a><\/strong> per <strong>identificar pacients vulnerables<\/strong>, o <strong>adjuntar <\/strong>el nostre<strong> perfil farmacogen\u00e8tic<\/strong> al nostre <strong>historial cl\u00ednic<\/strong>.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ara, una <a rel=\"noreferrer noopener\" href=\"https:\/\/www.ibe.upf-csic.es\/home\/-\/asset_publisher\/T2caeLMECPvW\/content\/revealed-genetic-inheritance-influences-adverse-drug-reactions\/maximized\" target=\"_blank\">investigaci\u00f3<\/a> internacional liderada per l\u2019<a rel=\"noreferrer noopener\" href=\"https:\/\/www.ibe.upf-csic.es\/\" target=\"_blank\">Institut de Biologia Evolutiva (IBE: CSIC-UPF)<\/a> ha desenvolupat un dels <strong>estudis <\/strong>m\u00e9s <strong>amplis <\/strong>sobre la <strong>influ\u00e8ncia <\/strong>de la <strong>variaci\u00f3 gen\u00e8tica <\/strong>dels individus en la <strong>toxicitat que els provoquen <\/strong>certs <strong>medicaments<\/strong>. Aquest estudi ha utilitzat bases de dades p\u00fabliques, dels projectes <em>1000 genomes<\/em> (<a rel=\"noreferrer noopener\" href=\"https:\/\/www.internationalgenome.org\/\" target=\"_blank\">1000G<\/a>),<em> Simmons Genome Diversity Project<\/em> (<a rel=\"noreferrer noopener\" href=\"https:\/\/www.nature.com\/articles\/nature18964\" target=\"_blank\">SGDP<\/a>) i <em>Human Genome Diversity Project<\/em> (<a rel=\"noreferrer noopener\" href=\"https:\/\/www.internationalgenome.org\/data-portal\/data-collection\/hgdp\" target=\"_blank\">HGDP<\/a>), per analitzar dades gen\u00e8tiques de<strong> 3.714 persones<\/strong> de diferents ascend\u00e8ncies de tots<strong> cinc continents<\/strong>, centrant-se en l\u2019impacte de <strong>1.136 variants gen\u00e8tiques<\/strong> associades amb la toxicitat de certs grups de f\u00e0rmacs. Mitjan\u00e7ant l\u2019\u00fas de t\u00e8cniques d\u2019<strong>intel\u00b7lig\u00e8ncia artificial <\/strong>, l\u2019equip ha pogut establir <strong>patrons <\/strong>de <strong>risc de toxicitat<\/strong> que podrien ser de gran utilitat en el <strong>cam\u00ed <\/strong>cap a una<strong> medicina m\u00e9s personalitzada<\/strong>.&nbsp;<\/p>\n\n\n\n<div style=\"height:40px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><p>\u201cEl fet que observem difer\u00e8ncies entre poblacions per aquestes variants suggereix que seria interessant incloure l\u2019ancestria gen\u00e8tica de l\u2019individu a l\u2019hora de fer estudis de toxicitat, per arribar a tenir tractaments m\u00e9s personalitzats\u201d. &nbsp;<\/p><cite><strong>\u00d2scar Lao<\/strong>, investigador principal de l&#8217;estudi<\/cite><\/blockquote>\n\n\n\n<div style=\"height:40px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Els <strong>resultats <\/strong>revelen que les poblacions d\u2019<strong>ascend\u00e8ncia americana i europea<\/strong> presenten un <strong>risc m\u00e9s elevat<\/strong> de patir toxicitat en un ventall ampli de f\u00e0rmacs. En particular, s\u2019ha detectat una major susceptibilitat a <strong>f\u00e0rmacs cardiovasculars i antimicrobians<\/strong> en aquestes poblacions. A m\u00e9s, les poblacions americanes mostren un risc alt amb antidepressius i analg\u00e8sics, mentre que les europees s\u00f3n m\u00e9s vulnerables als immunosupressors i als f\u00e0rmacs anticancerosos. A l\u2019altre extrem, les poblacions d\u2019ascend\u00e8ncia de l<strong>\u2019est asi\u00e0tic<\/strong> i, en menor mesura, les d\u2019ascend\u00e8ncia <strong>oce\u00e0nica<\/strong>, presenten un<strong> risc molt baix de toxicitat <\/strong>en general, amb l\u2019excepci\u00f3 d\u2019algunes poblacions d\u2019\u00c0sia central que mostren sensibilitat als analg\u00e8sics. Les poblacions africanes es troben en una situaci\u00f3 interm\u00e8dia, amb m\u00e9s varietat en les respostes.<\/p>\n\n\n\n<div style=\"height:40px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-large\"><img decoding=\"async\" src=\"https:\/\/www.ibe.upf-csic.es\/documents\/3816330\/284259835\/Imagen1Alta.jpg\/de922405-9fbe-3ea5-211e-e12208610edd?t=1728400979529\" alt=\"\"\/><figcaption>Mapa predictiu de com l&#8217;origen gen\u00e8tic modifica el risc d\u2019efectes adversos dels medicaments. Cada punt circular \u00e9s una regi\u00f3 de mostreig. Els colors vermellosos indiquen m\u00e9s risc de patir afectes adversos, mentre que el blau s\u00f3n regions amb menys risc. Figura de Kariofyllis Karamperis i \u00d2scar Lao.<\/figcaption><\/figure><\/div>\n\n\n\n<div style=\"height:40px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Per dur a terme l\u2019an\u00e0lisi gen\u00f2mica, els investigadors han utilitzat t\u00e8cniques de <strong><em>machine learning<\/em><\/strong> per <strong>estudiar <\/strong>la <strong>funci\u00f3 <\/strong>de <strong>gens <\/strong>implicats en <strong>l\u2019absorci\u00f3 <\/strong>i el <strong>transport <\/strong>de <strong>f\u00e0rmacs<\/strong>. A m\u00e9s, la <strong>mineria de textos (<em>text mining<\/em>)<\/strong>, que es basa en l\u2019obtenci\u00f3 d&#8217;informaci\u00f3 a partir de dades en text, ha perm\u00e8s <strong>extreure <\/strong>i <strong>agrupar variants gen\u00e8tiques<\/strong>, tot <strong>relacionant<\/strong>-les amb <strong>ascend\u00e8ncies gen\u00e8tiques <\/strong>de <strong>regions geogr\u00e0fiques <\/strong>concretes. Aquestes t\u00e8cniques han revelat<strong> patrons de risc gen\u00e8tic<\/strong> que poden tenir un gran <strong>impacte <\/strong>en la<a href=\"https:\/\/ellipse.prbb.org\/ca\/una-federacio-europea-de-dades-genomiques-per-impulsar-la-medicina-personalitzada\/\" target=\"_blank\" rel=\"noreferrer noopener\"> <strong>medicina personalitzada<\/strong><\/a>.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201cEn \u00faltima inst\u00e0ncia, per\u00f2, el risc de patir efectes adversos \u00e9s espec\u00edfic de cada individu, m\u00e9s enll\u00e0 de la seva ancestria. Idealment ens haurien de seq\u00fcenciar tot el genoma per poder establir els nostres patrons de risc\u201d, adverteix <strong>\u00d2scar Lao<\/strong>, investigador principal de l\u2019estudi.&nbsp;<\/p>\n\n\n\n<div style=\"height:60px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un estudi internacional liderat per l\u2019IBE (CSIC-UPF) ha utilitzat eines d\u2019intel\u00b7lig\u00e8ncia artificial per analitzar 1.136 variants gen\u00e8tiques de persones d\u2019arreu del m\u00f3n per estudiar la influ\u00e8ncia de l\u2019her\u00e8ncia gen\u00e8tica en la reacci\u00f3 als f\u00e0rmacs. <\/p>\n","protected":false},"author":33,"featured_media":45357,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[26,4],"tags":[233,289,706,332,859],"new-type":[13,35],"class_list":["post-45346","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-recerca","category-research","tag-farmacologia","tag-genoma","tag-genomica","tag-gens","tag-ia","new-type-news","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/45346","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/users\/33"}],"replies":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/comments?post=45346"}],"version-history":[{"count":13,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/45346\/revisions"}],"predecessor-version":[{"id":45441,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/45346\/revisions\/45441"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/45357"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=45346"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=45346"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=45346"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=45346"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}