通过遗传学揭示腕管综合征的风险:早期预防的途径

J. Fair, Caitlin Shi, Harshit Amin, Tharidu Gunawardena, Sarah Abernathy, Sai Kottapalli, Sophia Thompson, Thomas Amabile, Kush N. Shah, Curtis Caughey, Kirin Anand, A. Sahu, Grace Yi, James Bennett
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引用次数: 0

摘要

腕管综合征(Carpal Tunnel Syndrome, CTS)是一种影响手部的常见疾病,由手腕正中神经受压引起。尽管其普遍性和对个体的影响,CTS的潜在生物学机制仍然知之甚少。此外,还缺乏识别有CTS风险的个体以预防其发展的策略。近年来,利用基因组测序、遗传分析和全基因组关联研究(GWAS)揭示了几种可能与CTS相关的遗传因素,包括特定基因和基因位点。结合这些发现的遗传风险评分(GRS)可能用于预测发生CTS的可能性,并能够更早地识别和预防这种疾病。GWAS已经证明CTS严重程度与由13个易感位点组成的GRS之间存在相关性。进一步研究开发更全面的CTS GRS,可能会减少这种疾病的总体负担。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Uncovering Carpal Tunnel Syndrome Risk through Genetics: A Path to Early Prevention
Carpal Tunnel Syndrome (CTS) is a common disorder that affects the hand, caused by compression of the median nerve at the wrist. Despite its prevalence and impact on individuals, the underlying biological mechanisms of CTS remain poorly understood. Moreover, there is a lack of strategies for identifying individuals at risk for CTS in order to prevent its development. In recent years, the use of genome sequencing, genetic analysis, and genome-wide association studies (GWAS) has revealed several genetic factors that may be associated with CTS, including specific genes and gene loci. A Genetic Risk Score (GRS) that incorporates these findings could potentially be used to predict the likelihood of developing CTS and enable earlier identification and prevention of the condition. GWAS has already demonstrated a correlation between CTS severity and a GRS composed of 13 susceptibility loci. Further research on the development of a more comprehensive GRS for CTS could potentially reduce the overall burden of this disorder.
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