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

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.