{"id":1893,"date":"2023-09-13T12:45:21","date_gmt":"2023-09-13T12:45:21","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1893"},"modified":"2026-02-22T23:54:49","modified_gmt":"2026-02-22T23:54:49","slug":"association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/13\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\/","title":{"rendered":"Association Between Genetic Polymorphisms and Risk of Adolescent Idiopathic Scoliosis in Case-Control Studies: A Systematic Review (Contributed by Liz Terhune, MS)"},"content":{"rendered":"<p>Adolescent idiopathic scoliosis (AIS) is a lateral curvature of the spine that affects 2-3% of children and is known to have a strong genetic component. Decades of studies have revealed dozens of genetic variants that may contribute to disease risk, but these studies vary greatly in methodology, cohort demographics, and sample sizes. To critically assess the available evidence for genetic variants associated with AIS risk, we performed a systematic review of recent case-control genetic studies for AIS risk. Our screening methodology resulted in 33 included studies, encompassing data from &gt;35,000 IS cases and &gt;62,000 control individuals, who were mostly of Caucasian or Asian ancestry. The highest number of reported associations were in SNPs in or near <em>LBX1, LBX1-AS1,<\/em> <em>GPR126\/ADGRG6<\/em> and <em>BNC2<\/em>. We advocate for increased cohort diversity and improvement in control cohort selection in future studies. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/09\/11\/jmg-2022-108993\">https:\/\/jmg.bmj.com\/content\/early\/2023\/09\/11\/jmg-2022-108993<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/13\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\/lab-members-2\/\" rel=\"attachment wp-att-1894\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1894\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/lab-members-300x224.jpg\" alt=\"\" width=\"300\" height=\"224\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/lab-members-300x224.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/lab-members-768x575.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/lab-members-640x479.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/lab-members.jpg 882w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Adolescent idiopathic scoliosis (AIS) is a lateral curvature of the spine that affects 2-3% of children and is known to have a strong genetic component. Decades of studies have revealed dozens of genetic variants that may contribute to disease risk, but these studies vary greatly in methodology, cohort demographics, and sample sizes. To critically assess [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/13\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\/\">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-1893","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Association Between Genetic Polymorphisms and Risk of Adolescent Idiopathic Scoliosis in Case-Control Studies: A Systematic Review (Contributed by Liz Terhune, MS) - 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\/2023\/09\/13\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Association Between Genetic Polymorphisms and Risk of Adolescent Idiopathic Scoliosis in Case-Control Studies: A Systematic Review (Contributed by Liz Terhune, MS) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Adolescent idiopathic scoliosis (AIS) is a lateral curvature of the spine that affects 2-3% of children and is known to have a strong genetic component. Decades of studies have revealed dozens of genetic variants that may contribute to disease risk, but these studies vary greatly in methodology, cohort demographics, and sample sizes. To critically assess [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/09\/13\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-09-13T12:45:21+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:54:49+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/09\/lab-members.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"882\" \/>\n\t<meta property=\"og:image:height\" content=\"660\" \/>\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\\\/2023\\\/09\\\/13\\\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/13\\\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Association Between Genetic Polymorphisms and Risk of Adolescent Idiopathic Scoliosis in Case-Control Studies: A Systematic Review (Contributed by Liz Terhune, MS)\",\"datePublished\":\"2023-09-13T12:45:21+00:00\",\"dateModified\":\"2026-02-22T23:54:49+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/13\\\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\\\/\"},\"wordCount\":166,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/13\\\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/09\\\/lab-members-300x224.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/13\\\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/13\\\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/09\\\/13\\\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\\\/\",\"name\":\"Association Between Genetic Polymorphisms and Risk of Adolescent Idiopathic Scoliosis in Case-Control Studies: A Systematic Review (Contributed by Liz Terhune, MS) - 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