NOD2 variants associated with susceptibility to leprosy

Mycobacterium leprae (the cause of leprosy) has not been studied well due to:
- narrow host range
- refractoriness to growth in culture

A genomewide association study by genotyping 706 patients and 1225 controls tested three replication sets for an association between the presence of leprosy and 93 single-nucleotide polymorphisms (SNPs).

There was a significant association between SNPs in the genes CCDC122, C13orf31, NOD2, TNFSF15, HLA-DR, and RIPK2.

Variants of genes in the NOD2-mediated signaling pathway (which regulates the innate immune response) are associated with susceptibility to infection with M. leprae.

Genomewide Association Study of Leprosy. Fu-Ren Zhang et al. NEJM Volume 361:2609-2618 December 31, 2009 Number 27.
SNPwatch: Breathe Easier…New Insights From Asthma Research. 23andMe blog, 2010.


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