{"id":237,"date":"2011-12-03T22:45:40","date_gmt":"2011-12-03T22:45:40","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=237"},"modified":"2026-02-25T20:47:59","modified_gmt":"2026-02-25T20:47:59","slug":"a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/","title":{"rendered":"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta)"},"content":{"rendered":"<p>The concept of the testicular dysgenesis syndrome (TDS) suggests that male infertility, cryptorchidism, hypospadias, impaired spermatogenesis and testicular germ cell cancer often have a common origin. In a systems biology framework, by combining a genome-wide association study with gene expression and mouse knock-out data to study the genetic components that predispose to TDS, we identified genes involved in TGF\u03b2 signaling that were significant across the TDS phenotypes. Our findings are particularly important because TDS is steadily increasing in western countries, thereby also increasing the need of assisted reproduction. We expect this work to be the basis of new functional studies and genomic fine mapping of the key loci identified. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/12\/02\/jmedgenet-2011-100174.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/12\/02\/jmedgenet-2011-100174.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The concept of the testicular dysgenesis syndrome (TDS) suggests that male infertility, cryptorchidism, hypospadias, impaired spermatogenesis and testicular germ cell cancer often have a common origin. In a systems biology framework, by combining a genome-wide association study with gene expression and mouse knock-out data to study the genetic components that predispose to TDS, we identified [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/\">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-237","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta) - 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\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The concept of the testicular dysgenesis syndrome (TDS) suggests that male infertility, cryptorchidism, hypospadias, impaired spermatogenesis and testicular germ cell cancer often have a common origin. In a systems biology framework, by combining a genome-wide association study with gene expression and mouse knock-out data to study the genetic components that predispose to TDS, we identified [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-12-03T22:45:40+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:47:59+00:00\" \/>\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\\\/2011\\\/12\\\/03\\\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/03\\\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta)\",\"datePublished\":\"2011-12-03T22:45:40+00:00\",\"dateModified\":\"2026-02-25T20:47:59+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/03\\\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\\\/\"},\"wordCount\":141,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/03\\\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/03\\\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/03\\\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\\\/\",\"name\":\"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2011-12-03T22:45:40+00:00\",\"dateModified\":\"2026-02-25T20:47:59+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/03\\\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/03\\\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/12\\\/03\\\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/","og_locale":"en_US","og_type":"article","og_title":"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta) - JMG Contact blog","og_description":"The concept of the testicular dysgenesis syndrome (TDS) suggests that male infertility, cryptorchidism, hypospadias, impaired spermatogenesis and testicular germ cell cancer often have a common origin. In a systems biology framework, by combining a genome-wide association study with gene expression and mouse knock-out data to study the genetic components that predispose to TDS, we identified [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/","og_site_name":"JMG Contact blog","article_published_time":"2011-12-03T22:45:40+00:00","article_modified_time":"2026-02-25T20:47:59+00:00","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\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta)","datePublished":"2011-12-03T22:45:40+00:00","dateModified":"2026-02-25T20:47:59+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/"},"wordCount":141,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/","url":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/","name":"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2011-12-03T22:45:40+00:00","dateModified":"2026-02-25T20:47:59+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/12\/03\/a-genome-wide-association-study-of-men-with-symptoms-of-testicular-dysgenesis-syndrome-and-its-network-biology-interpretation\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (Contributed by Dr Ramneek Gupta)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/237","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=237"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/237\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=237"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=237"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=237"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}