{"id":176,"date":"2011-06-20T18:27:20","date_gmt":"2011-06-20T18:27:20","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=176"},"modified":"2026-02-25T20:58:17","modified_gmt":"2026-02-25T20:58:17","slug":"linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/20\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\/","title":{"rendered":"Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27 (Contributed by Claudia Volpato, PhD)"},"content":{"rendered":"<p>To identify genes contributing to hyperthyrotropinemia and clinical hypothyroidism, we performed linkage analysis on 1,258 individuals from three semi-isolated Alpine villages. Cases were defined based on TSH levels (TSH \u2265 4.6 mU\/L and TSH &gt; 3.0 mU\/L) and medical treatment while having normal\/low fT4 levels. Two peaks on chromosomes 3q28-29 and 6q26-27 were identified. SNP- and gene-based association under the linkage peaks identified signals within the PDE10A and DACT2 genes amongst others. Previous population studies have suggested association of variants in PDE10A with TSH levels. Our results indicate the presence of variants in the region of these genes capable of contributing to pathological disruption of the hypothalamus-pituitary-thyroid axis. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/06\/20\/jmg.2010.088583.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/06\/20\/jmg.2010.088583.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>To identify genes contributing to hyperthyrotropinemia and clinical hypothyroidism, we performed linkage analysis on 1,258 individuals from three semi-isolated Alpine villages. Cases were defined based on TSH levels (TSH \u2265 4.6 mU\/L and TSH &gt; 3.0 mU\/L) and medical treatment while having normal\/low fT4 levels. Two peaks on chromosomes 3q28-29 and 6q26-27 were identified. SNP- [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/20\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\/\">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-176","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>Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27 (Contributed by Claudia Volpato, PhD) - 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\/06\/20\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27 (Contributed by Claudia Volpato, PhD) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"To identify genes contributing to hyperthyrotropinemia and clinical hypothyroidism, we performed linkage analysis on 1,258 individuals from three semi-isolated Alpine villages. Cases were defined based on TSH levels (TSH \u2265 4.6 mU\/L and TSH &gt; 3.0 mU\/L) and medical treatment while having normal\/low fT4 levels. Two peaks on chromosomes 3q28-29 and 6q26-27 were identified. SNP- [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/20\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-06-20T18:27:20+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:58:17+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\\\/06\\\/20\\\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/20\\\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27 (Contributed by Claudia Volpato, PhD)\",\"datePublished\":\"2011-06-20T18:27:20+00:00\",\"dateModified\":\"2026-02-25T20:58:17+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/20\\\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\\\/\"},\"wordCount\":146,\"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\\\/06\\\/20\\\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/20\\\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/20\\\/linkage-and-association-analysis-of-hyperthyrotropinaemia-in-an-alpine-population-reveal-two-novel-loci-on-chromosomes-3q28-29-and-6q26-27\\\/\",\"name\":\"Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27 (Contributed by Claudia Volpato, PhD) - 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