{"id":1258,"date":"2019-03-26T14:25:35","date_gmt":"2019-03-26T14:25:35","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1258"},"modified":"2026-02-24T00:44:31","modified_gmt":"2026-02-24T00:44:31","slug":"genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/","title":{"rendered":"Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension (Contributed by Dr. Robert Castelo)"},"content":{"rendered":"<p>The penetrance of a genetic disorder is the risk for disease onset, given the disease-causing mutation. Heritable pulmonary arterial hypertension (PAH) is a rare genetic disorder characterised by mutations mostly occurring in the bone morphogenetic protein receptor type 2 (<em>BMPR2<\/em>) gene, and a wide heterogeneity of penetrance modifier mechanisms. In this study, we genotyped 32 individuals, including 12 healthy <em>BMPR2<\/em> mutation carriers and 5 patients, from a large Iberian family affected by PAH. Using genetic linkage analysis techniques and functional genomics data, we identified a candidate genetic modifier of heritable PAH. This result may help to advance our understanding of genetic modifiers of penetrance in heritable PAH. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/03\/20\/jmedgenet-2018-105669\">https:\/\/jmg.bmj.com\/content\/early\/2019\/03\/20\/jmedgenet-2018-105669<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/hpaharticleblogfigure\/\" rel=\"attachment wp-att-1259\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1259\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/HPAHarticleBlogFigure-300x237.png\" alt=\"\" width=\"300\" height=\"237\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/HPAHarticleBlogFigure-300x237.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/HPAHarticleBlogFigure-768x606.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/HPAHarticleBlogFigure-640x505.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/HPAHarticleBlogFigure.png 951w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The penetrance of a genetic disorder is the risk for disease onset, given the disease-causing mutation. Heritable pulmonary arterial hypertension (PAH) is a rare genetic disorder characterised by mutations mostly occurring in the bone morphogenetic protein receptor type 2 (BMPR2) gene, and a wide heterogeneity of penetrance modifier mechanisms. In this study, we genotyped 32 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1258","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension (Contributed by Dr. Robert Castelo) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension (Contributed by Dr. Robert Castelo) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The penetrance of a genetic disorder is the risk for disease onset, given the disease-causing mutation. Heritable pulmonary arterial hypertension (PAH) is a rare genetic disorder characterised by mutations mostly occurring in the bone morphogenetic protein receptor type 2 (BMPR2) gene, and a wide heterogeneity of penetrance modifier mechanisms. In this study, we genotyped 32 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-03-26T14:25:35+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:44:31+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/HPAHarticleBlogFigure.png\" \/>\n\t<meta property=\"og:image:width\" content=\"951\" \/>\n\t<meta property=\"og:image:height\" content=\"750\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension (Contributed by Dr. Robert Castelo)\",\"datePublished\":\"2019-03-26T14:25:35+00:00\",\"dateModified\":\"2026-02-24T00:44:31+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\\\/\"},\"wordCount\":137,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/03\\\/HPAHarticleBlogFigure-300x237.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/03\\\/26\\\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\\\/\",\"name\":\"Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension (Contributed by Dr. Robert Castelo) - 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In this study, we genotyped 32 [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/","og_site_name":"JMG Contact blog","article_published_time":"2019-03-26T14:25:35+00:00","article_modified_time":"2026-02-24T00:44:31+00:00","og_image":[{"width":951,"height":750,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/HPAHarticleBlogFigure.png","type":"image\/png"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension (Contributed by Dr. Robert Castelo)","datePublished":"2019-03-26T14:25:35+00:00","dateModified":"2026-02-24T00:44:31+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/"},"wordCount":137,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/03\/HPAHarticleBlogFigure-300x237.png","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/","url":"https:\/\/blogs.bmj.com\/jmg\/2019\/03\/26\/genetic-linkage-analysis-of-a-large-family-identifies-fign-as-a-candidate-modulator-of-reduced-penetrance-in-heritable-pulmonary-arterial-hypertension\/","name":"Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension (Contributed by Dr. Robert Castelo) - 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