{"id":873,"date":"2016-04-01T18:38:17","date_gmt":"2016-04-01T18:38:17","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=873"},"modified":"2026-02-25T00:12:24","modified_gmt":"2026-02-25T00:12:24","slug":"meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/01\/meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\/","title":{"rendered":"Meta-analysis of 49\u2005549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels (Contributed by Elisa van Leeuwen)"},"content":{"rendered":"<p>So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies. These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels by analyzing about 150,000 individuals. Our study resulted in the identification and replication of five new associations with circulating lipid levels at loci within genes that can be linked biologically to lipid metabolism. One of the variants we find associated with triglycerides, is rs116843064, a variant that changes the amino acid glutamic acid into lysine (Glu40Lys) and is predicted to be damaging for the structure and function of the protein. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/01\/jmedgenet-2015-103439\">http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/01\/jmedgenet-2015-103439<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Fig1D.jpg\" rel=\"attachment wp-att-874\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-874\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Fig1D-300x159.jpg\" alt=\"Fig1D\" width=\"300\" height=\"159\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Fig1D-300x159.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Fig1D.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies. These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/01\/meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\/\">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-873","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>Meta-analysis of 49\u2005549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels (Contributed by Elisa van Leeuwen) - 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\/2016\/04\/01\/meta-analysis-of-49\u2005549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Meta-analysis of 49\u2005549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels (Contributed by Elisa van Leeuwen) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies. These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/01\/meta-analysis-of-49\u2005549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-04-01T18:38:17+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:12:24+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Fig1D.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"640\" \/>\n\t<meta property=\"og:image:height\" content=\"339\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2016\\\/04\\\/01\\\/meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/04\\\/01\\\/meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Meta-analysis of 49\u2005549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels (Contributed by Elisa van Leeuwen)\",\"datePublished\":\"2016-04-01T18:38:17+00:00\",\"dateModified\":\"2026-02-25T00:12:24+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/04\\\/01\\\/meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\\\/\"},\"wordCount\":162,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/04\\\/01\\\/meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2016\\\/04\\\/Fig1D-300x159.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/04\\\/01\\\/meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/04\\\/01\\\/meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/04\\\/01\\\/meta-analysis-of-49%e2%80%85549-individuals-imputed-with-the-1000-genomes-project-reveals-an-exonic-damaging-variant-in-angptl4-determining-fasting-tg-levels\\\/\",\"name\":\"Meta-analysis of 49\u2005549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels (Contributed by Elisa van Leeuwen) - 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