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一种与桡骨茎突狭窄性腱鞘炎相关的基因标记物。

A Genetic Marker Associated with De Quervain's Tenosynovitis.

作者信息

Kim Stuart K, Ahmed Marwa A, Avins Andy L, Ioannidis John P A

机构信息

Dept. of Dev. Bio., Stanford, Stanford University, United States.

Dept. of Orthopedic Surgery, Stanford University, Stanford, United States.

出版信息

Int J Sports Med. 2017 Nov;38(12):942-948. doi: 10.1055/s-0043-116669. Epub 2017 Oct 6.

Abstract

De Quervain's tenosynovitis is a repetitive strain injury involving synovial inflammation of the tendons of the first extensor compartment of the wrist. It is relatively common in the general population, and is the most common radial-sided tendinopathy seen in athletes. Identifying a genetic marker associated with de Quervain's tenosynovitis could provide a useful tool to help identify those individuals with an increased risk for injury. A genome-wide association screen was performed using publically available data from the Research Program in Genes, Environment and Health (RPGEH) including 4,129 cases and 98,374 controls. rs35360670 on chromosome 8 showed an association with de Quervain's tenosynovitis at genome-wide significance (p=1.9×10; OR=1.46; 95% CI=1.38-1.59). This study is the first genome-wide screen for de Quervain's tenosynovitis and provides insights regarding its genetic etiology as well as a DNA marker with the potential to inform athletes and other high-risk individuals about their relative risk for injury.

摘要

桡骨茎突狭窄性腱鞘炎是一种重复性劳损损伤,涉及腕部第一伸肌间隔肌腱的滑膜炎症。它在普通人群中相对常见,是运动员中最常见的桡侧肌腱病。识别与桡骨茎突狭窄性腱鞘炎相关的基因标记物可以提供一个有用的工具,以帮助识别那些受伤风险增加的个体。利用基因、环境与健康研究项目(RPGEH)公开的数据进行了全基因组关联筛查,包括4129例病例和98374例对照。8号染色体上的rs35360670在全基因组水平上显示与桡骨茎突狭窄性腱鞘炎相关(p=1.9×10;OR=1.46;95%CI=1.38-1.59)。本研究是首次对桡骨茎突狭窄性腱鞘炎进行全基因组筛查,为其遗传病因提供了见解,并提供了一个DNA标记物,有可能告知运动员和其他高危个体他们相对受伤风险。

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