Common polymorphisms in the NOD2 gene region are associated with leprosy and its reactive states.

Background: Because of its wide spectrum of clinical manifestations and its well-defined immunological complications, leprosy is a useful disease for studying genetic regulation of the host response to infection. We hypothesized that polymorphisms in the nucleotide-binding oligomerization domain containing 2 (NOD2) gene, for a cytosolic receptor known to detect mycobacteria, are associated with susceptibility to leprosy and its clinical outcomes.

Methods: We used a case-control study design with 933 patients in Nepal.