Suppr超能文献

常见DNA变异可准确对极端身高个体进行排名。

Common DNA Variants Accurately Rank an Individual of Extreme Height.

作者信息

Sexton Corinne E, Ebbert Mark T W, Miller Ryan H, Ferrel Meganne, Tschanz Jo Ann T, Corcoran Christopher D, Ridge Perry G, Kauwe John S K

机构信息

Department of Biology, Brigham Young University, Provo, UT 84602, USA.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.

出版信息

Int J Genomics. 2018 Sep 4;2018:5121540. doi: 10.1155/2018/5121540. eCollection 2018.

Abstract

Polygenic scores (or genetic risk scores) quantify the aggregate of small effects from many common genetic loci that have been associated with a trait through genome-wide association. Polygenic scores were first used successfully in schizophrenia and have since been applied to multiple phenotypes including multiple sclerosis, rheumatoid arthritis, and height. Because human height is an easily-measured and complex polygenic trait, polygenic height scores provide exciting insights into the predictability of aggregate common variant effect on the phenotype. Shawn Bradley is an extremely tall former professional basketball player from Brigham Young University and the National Basketball Association (NBA), measuring 2.29 meters (7'6, 99.99999th percentile for height) tall, with no known medical conditions. Here, we present a case where a rare combination of common SNPs in one individual results in an extremely high polygenic height score that is correlated with an extreme phenotype. While polygenic scores are not clinically significant in the average case, our findings suggest that for extreme phenotypes, polygenic scores may be more successful for the prediction of individuals.

摘要

多基因分数(或遗传风险分数)量化了许多常见基因位点的微小效应总和,这些位点通过全基因组关联与某一性状相关联。多基因分数最初在精神分裂症研究中成功应用,此后被应用于多种表型,包括多发性硬化症、类风湿性关节炎和身高。由于人类身高是一种易于测量且复杂的多基因性状,多基因身高分数为总常见变异对表型的可预测性提供了令人兴奋的见解。肖恩·布拉德利是一位来自杨百翰大学和美国国家篮球协会(NBA)的极高的前职业篮球运动员,身高2.29米(7英尺6英寸,身高处于第99.99999百分位),没有已知的健康问题。在此,我们展示了一个案例,即一个个体中常见单核苷酸多态性(SNP)的罕见组合导致了极高的多基因身高分数,且该分数与极端表型相关。虽然在一般情况下多基因分数在临床上并不显著,但我们的研究结果表明,对于极端表型,多基因分数在预测个体方面可能更成功。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ccd/6142724/167254522ff0/IJG2018-5121540.001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验