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.