{"id":17036,"date":"2023-12-29T13:09:39","date_gmt":"2023-12-29T12:09:39","guid":{"rendered":"http:\/\/www.hematostat.net\/?p=17036"},"modified":"2024-12-11T19:16:45","modified_gmt":"2024-12-11T18:16:45","slug":"prevalence-des-variants-ddx41-dans-la-population-generale","status":"publish","type":"post","link":"https:\/\/www.hematostat.net\/en\/prevalence-des-variants-ddx41-dans-la-population-generale\/","title":{"rendered":"Pr\u00e9valence des variants DDX41 dans la population g\u00e9n\u00e9rale"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1302px;margin-left: calc(-5% \/ 2 );margin-right: calc(-5% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:2.375%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:2.375%;--awb-width-medium:100%;--awb-spacing-right-medium:2.375%;--awb-spacing-left-medium:2.375%;--awb-width-small:100%;--awb-spacing-right-small:2.375%;--awb-spacing-left-small:2.375%;\"><div class=\"fusion-column-wrapper fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\"><p>R\u00e9f. : HematoStat.net ; 4 (4) : R87<\/p>\n<p><a href=\"https:\/\/ashpublications.org\/blood\/article-abstract\/142\/14\/1185\/497190\/Prevalence-and-significance-of-DDX41-gene-variants?redirectedFrom=fulltext\"><i>Cheloor Kovilakam S, Gu M, Dunn WG, Marando L, Barcena C, Nik-Zainal S, et al. Prevalence and significance of DDX41 gene variants in the general population. Blood (2023) 142 (14): 1185\u20131192. doi: 10.1182\/blood.2023020209.<\/i><\/a><\/p>\n<p><strong>R\u00e9sum\u00e9<\/strong><\/p>\n<p>Dans ce travail de large ampleur (&gt;400 000 individus de la UK Biobank), la pr\u00e9valence de mutations germinales <em>DDX41<\/em> \u00e9tait estim\u00e9e \u00e0 1\/430 individus. Ces mutations \u00e9taient associ\u00e9es \u00e0 un risque accru de d\u00e9velopper des SMD\/LAM (OR 4,15) \u00e0 un \u00e2ge m\u00e9dian de 71 ans, d\u00e9pendant du type de mutations (plus \u00e9lev\u00e9 en cas de mutations troncantes et perte du codon initiateur), et non de syndrome my\u00e9loprolif\u00e9ratif ou de lymphome. Une augmentation du VGM \u00e9tait pr\u00e9dictif de la transformation SMD\/LAM, dont le risque absolu \u00e9tait estim\u00e9 \u00e0 3,21 % (suivi ~13 ans).<\/p>\n<p><strong>Dans nos pratiques<\/strong><\/p>\n<p>Deux principales interrogations d\u00e9coulent de ce travail. En premier lieu, la recherche de ces variants constitutionnels pourrait \u00eatre discut\u00e9e chez les donneurs en contexte de projet allog\u00e9nique, \u00e9tant donn\u00e9 leur pr\u00e9valence dans la population g\u00e9n\u00e9rale. Par ailleurs, cette \u00e9tude fait discuter la surveillance des porteurs asymptomatiques, potentiellement accrue notamment en cas d\u2019anomalie du VGM.<\/p>\n<p><strong>Le regard du biostatisticien<\/strong><\/p>\n<p>Il faut bien un jeu de donn\u00e9es d\u2019un tel effectif de plusieurs centaines de milliers d\u2019individus pour pouvoir analyser des mutations \u00e0 la fr\u00e9quence si faible. Pas \u00e9tonnant d\u00e8s lors, d\u2019avoir des <em>odds-ratios<\/em> estim\u00e9s tr\u00e8s \u00e9lev\u00e9s avec des intervalles de confiance tr\u00e8s larges, ou de rencontrer des difficult\u00e9s de pouvoir ajuster comme il se doit les mod\u00e9lisations mais c\u2019est le jeu. \u00c0 noter l\u2019utilisation de Python pour l\u2019analyse statistiques et graphiques ; ce logiciel se d\u00e9mocratise de plus en de plus.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":17037,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_uf_show_specific_survey":0,"_uf_disable_surveys":false,"footnotes":""},"categories":[36],"tags":[],"ppma_author":[459,466],"class_list":["post-17036","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-revue-de-presse","author-lin-pierre-zhao","author-stephane-morisset"],"aioseo_notices":[],"authors":[{"term_id":459,"user_id":0,"is_guest":1,"slug":"lin-pierre-zhao","display_name":"Lin-Pierre ZHAO","avatar_url":{"url":"https:\/\/www.hematostat.net\/wp-content\/uploads\/2023\/06\/Capture-decran-2023-03-29-a-12.52.50-1.png","url2x":"https:\/\/www.hematostat.net\/wp-content\/uploads\/2023\/06\/Capture-decran-2023-03-29-a-12.52.50-1.png"},"first_name":"","last_name":"","user_url":"","description":"H\u00e9matologue. <br>\r\nChef de clinique assistant <br>\r\n<strong>Liens d'int\u00e9r\u00eats au 06\/03\/2024 : <\/strong>l'auteur d\u00e9clare ne pas avoir de liens d'int\u00e9r\u00eats. <br>\r\n<strong>Liens d'int\u00e9r\u00eats au 01\/01\/2024 : <\/strong>l'auteur d\u00e9clare ne pas avoir de liens d'int\u00e9r\u00eats. <br>\r\n<strong>Correspondance : <\/strong>Service H\u00e9matologie S\u00e9niors - Tr\u00e8fle 4 | H\u00f4pital Saint-Louis | Universit\u00e9 Paris Cit\u00e9\r\nInserm U1160 | Institut de Recherche Saint-Louis\r\n1 avenue Claude Vellefaux, 75010 Paris.<br>"},{"term_id":466,"user_id":0,"is_guest":1,"slug":"stephane-morisset","display_name":"St\u00e9phane MORISSET","avatar_url":{"url":"https:\/\/www.hematostat.net\/wp-content\/uploads\/2023\/06\/Stephane-MORISSET-Biostatisticien-150x150-1.jpg","url2x":"https:\/\/www.hematostat.net\/wp-content\/uploads\/2023\/06\/Stephane-MORISSET-Biostatisticien-150x150-1.jpg"},"first_name":"","last_name":"","user_url":"","description":"Biostatisticien. <br>\r\n<strong>Domaines d'expertise :<\/strong> essais cliniques.<br>\r\n<strong>Liens d'int\u00e9r\u00eats au 06\/03\/2024 : <\/strong>l'auteur d\u00e9clare ne pas avoir de liens d'int\u00e9r\u00eats. <br>\r\n<strong>Liens d'int\u00e9r\u00eats au 01\/01\/2024 : <\/strong>l'auteur d\u00e9clare ne pas avoir de liens d'int\u00e9r\u00eat."}],"_links":{"self":[{"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/posts\/17036","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/comments?post=17036"}],"version-history":[{"count":8,"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/posts\/17036\/revisions"}],"predecessor-version":[{"id":18261,"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/posts\/17036\/revisions\/18261"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/media\/17037"}],"wp:attachment":[{"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/media?parent=17036"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/categories?post=17036"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/tags?post=17036"},{"taxonomy":"author","embeddable":true,"href":"https:\/\/www.hematostat.net\/en\/wp-json\/wp\/v2\/ppma_author?post=17036"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}