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A Novel Single Nucleotide Polymorphism within the NOD2 Gene is Associated with Pulmonary Tuberculosis in Chinese

The immune system relies on pattern recognition receptors for the identification of invasion by exogenous pathogenic microorganisms. Nucleotide‐binding oligomerization domain2 is a member of the NLR family and is considered as non‐redundant recognition mechanism of Mycobacterium tuberculosis. The present study was conducted on the fourth exon of the NOD2 gene in 179 cases and 177 healthy controls using PCR sequencing, and found a synonymous mutation Arg587Arg which was located in the ultra‐coil encoding region (Winged Helix and Superhelical Domain) of the NOD2 protein. The synonymous mutation was CGT to CGG encoding the Arginine (OR: 2.06; CI: 1.18–3.60). There was a significant difference between tuberculosis patients and the healthy control group (P<0.05), indicating the Arg587Arg site susceptibility to pulmonary tuberculosis. By focusing on the Pro268Ser, Arg708His and Aal725Val locus in the NOD2 gene, we found that the probability of this series was very low in a Chinese Han population and there was no significant difference (P=0.267). We concluded that the single nucleotide polymorphism Arg587Arg in the NOD2 gene was significantly associated with tuberculosis in the Chinese population that provided new data for the world tuberculosis susceptibility research.