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NOD2基因中常见的非同义多态性与非裔美国人对结核病的抗性或易感性相关。

Common nonsynonymous polymorphisms in the NOD2 gene are associated with resistance or susceptibility to tuberculosis disease in African Americans.

作者信息

Austin Celest M, Ma Xin, Graviss Edward A

机构信息

Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA.

出版信息

J Infect Dis. 2008 Jun 15;197(12):1713-6. doi: 10.1086/588384.

Abstract

Pattern-recognition receptors (PRRs) play a key role in innate immunity against intracellular bacteria. NOD2 is one of the PRRs that contribute to the immune response to Mycobacterium tuberculosis infection. We sequenced coding regions of the NOD2 gene in 377 African Americans with tuberculosis (TB) disease and 187 ethnically matched control subjects. Three common nonsynonymous single-nucleotide polymorphisms--Pro268Ser, Arg702Trp, and Ala725Gly--demonstrated significant associations with TB disease. This finding may contribute to the future development of immunotherapy and immunoprophylaxis for TB disease.

摘要

模式识别受体(PRRs)在针对细胞内细菌的固有免疫中起关键作用。NOD2是有助于对结核分枝杆菌感染产生免疫反应的PRRs之一。我们对377名患有结核病(TB)的非裔美国人以及187名种族匹配的对照受试者的NOD2基因编码区进行了测序。三种常见的非同义单核苷酸多态性——Pro268Ser、Arg702Trp和Ala725Gly——与结核病显著相关。这一发现可能有助于结核病免疫疗法和免疫预防的未来发展。

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