83 rare genetic variants can significantly affect height
February 04, 2017 Source: Technology Daily
Window._bd_share_config={ "common":{ "bdSnsKey":{ },"bdText":"","bdMini":"2","bdMiniList":false,"bdPic":"","bdStyle":" 0","bdSize":"16"},"share":{ }};with(document)0[(getElementsByTagName('head')[0]||body).appendChild(createElement('script')) .src='http://bdimg.share.baidu.com/static/api/js/share.js?v=89860593.js?cdnversion='+~(-new Date()/36e5)];An international research team published a paper in the online edition of Nature on February 1st, saying that after studying the genome of more than 700,000 people, they found 83 rare genetic variants that can significantly affect human height, and their height is human. The impact is much larger than the previously discovered genetic variants, some affecting height by more than 2 cm.
The study was led by the Association of Human Traits Genetic Research (GIANT). As early as 2014, the GIANT research team discovered nearly 700 height-related genetic variants distributed in more than 400 gene regions of the human body through a genome study of 250,000 people. The researchers used a method that was a genome-wide association study that tracked specific trait gene variants by genome-wide sequencing scans of large populations. Genome-wide association studies are good at finding common genetic variations, but it is difficult to find unusual or rare genetic variations. Nearly 700 genetic variants discovered at the time were more common mutations, and their effects on human height were mostly less than 1 mm.
This time, the research team used a new exome chip sequencing technology, a genomic analysis method that uses sequence capture technology to capture and enrich the whole genome exon region DNA for high-throughput sequencing. The researchers used this technique to collect and analyze the genetic data of 711,428 adults, and finally identified 83 rare genetic variants related to height, of which 51 genetic variants belonged to "low frequency" mutations, with an incidence of less than 5%; 32 genes Mutations are very rare variants with an incidence of less than 0.5%. Compared to the nearly 700 common mutations previously discovered, the newly discovered genetic variants have a much greater impact on height. Of the 83 genetic variants, 24 had a height impact of more than 1 cm, and several of them had a height impact of more than 2 cm.
The researchers pointed out that height is a very complex genetic trait, which is influenced by many genetic variations. Mastering these variability is of great significance for understanding complex genetic and multi-factor diseases such as diabetes and heart disease. (Reporter Liu Haiying)
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