Assessing the role of SH3RF1 and SH3RF2 polymorphisms in susceptibility to tuberculosis: A case-control study in the Han Chinese population.

Background: Tuberculosis (TB) remains a major public health problem. SH3RF1 and SH3RF2 are candidate genes with multiple single-nucleotide polymorphisms (SNPs) that have the potential to participate in Mycobacterium infection via activation of the JNK signaling pathway. In this case-control study, we aimed to investigate the association of five SH3RF1 and SH3RF2 SNPs with susceptibility to TB in the Western Chinese population.

Methods: A total of 900 TB patients and 1534 healthy control subjects were enrolled in our study. All samples used were obtained from the Bio-Bank of resources of Tuberculosis Research in the Department of Laboratory Medicine, West China Hospital, Sichuan University, China. SNP genotyping was conducted using a commercial custom-by-design 2 × 48-Plex SNPscan Kit.

Results: The rs758037 variant of the SH3RF2 gene was found to be associated with decreased TB risk based on allelic effects (p = 0.00001, OR = 0.731, 95% CI = 0.641-0.833) and three genetic models (padd = 0.00001, pdom = 0.0003, prec = 0.0007) after the data were controlled for age and gender and underwent Bonferroni correction. The rs4913057 variant of the SH3RF2 gene was found to be associated with increased TB risk in a dominant model (p = 0.021, OR: 1.260, 95% CI: 1.065-1.490). No significant association was observed between other SNPs and TB risk.

Conclusion: These findings indicate that polymorphisms in the SH3RF2 gene are involved in susceptibility to TB in the Western Chinese population.