{"id":1630,"date":"2021-04-29T01:32:53","date_gmt":"2021-04-29T01:32:53","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1630"},"modified":"2026-02-23T22:56:25","modified_gmt":"2026-02-23T22:56:25","slug":"analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/29\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\/","title":{"rendered":"Analysis of 200,000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia (Contributed by Prof David Curtis)"},"content":{"rendered":"<p>A number of genes have previously been identified in which extremely rare variants with a large impact on gene function can produce marked abnormalities in lipid metabolism. Here we show that much larger numbers of protein-altering variants in these genes can have moderate effects on increasing or reducing the risk of clinically relevant hyperlipidaemia in the general population. Such variants remain cumulatively uncommon, limiting their clinical applicability. The results throw further light on the systems regulating lipid levels and illustrate the contribution of rare coding variants to the risk of a common, complex phenotype. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/04\/27\/jmedgenet-2021-107752\">https:\/\/jmg.bmj.com\/content\/early\/2021\/04\/27\/jmedgenet-2021-107752<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/29\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\/me\/\" rel=\"attachment wp-att-1631\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1631\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Me-208x300.jpg\" alt=\"\" width=\"208\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Me-208x300.jpg 208w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Me-710x1024.jpg 710w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Me-768x1108.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Me-640x923.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Me.jpg 818w\" sizes=\"auto, (max-width: 208px) 100vw, 208px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A number of genes have previously been identified in which extremely rare variants with a large impact on gene function can produce marked abnormalities in lipid metabolism. Here we show that much larger numbers of protein-altering variants in these genes can have moderate effects on increasing or reducing the risk of clinically relevant hyperlipidaemia in [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/29\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\/\">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-1630","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>Analysis of 200,000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia (Contributed by Prof David Curtis) - 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\/2021\/04\/29\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Analysis of 200,000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia (Contributed by Prof David Curtis) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"A number of genes have previously been identified in which extremely rare variants with a large impact on gene function can produce marked abnormalities in lipid metabolism. Here we show that much larger numbers of protein-altering variants in these genes can have moderate effects on increasing or reducing the risk of clinically relevant hyperlipidaemia in [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/29\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-04-29T01:32:53+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T22:56:25+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/Me.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"818\" \/>\n\t<meta property=\"og:image:height\" content=\"1180\" \/>\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\\\/2021\\\/04\\\/29\\\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/29\\\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Analysis of 200,000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia (Contributed by Prof David Curtis)\",\"datePublished\":\"2021-04-29T01:32:53+00:00\",\"dateModified\":\"2026-02-23T22:56:25+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/29\\\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\\\/\"},\"wordCount\":122,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/29\\\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/04\\\/Me-208x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/29\\\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/29\\\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/04\\\/29\\\/analysis-of-200000-exome-sequenced-uk-biobank-subjects-illustrates-the-contribution-of-rare-genetic-variants-to-hyperlipidaemia\\\/\",\"name\":\"Analysis of 200,000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia (Contributed by Prof David Curtis) - 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