Background: Splicing factor 3A subunit 1 (SF3A1)-related pathways involve gene expression and mRNA splicing. To date, no direct association of SF3A1 with tuberculosis or similar infectious diseases has been reported in the literature. Methods: A case‒control study was conducted in 1137 patients with tuberculosis (558 with severe tuberculosis and 579 with mild tuberculosis) and 581 healthy controls. Whole blood DNA was extracted from all patients. Four tag polymorphisms (rs2074733, rs10376, rs117435254, and rs2839998) of the SF3A1 gene were selected and genotyped using a SNPscan Kit (Cat#: G0104, Genesky Biotechnologies Inc., Shanghai, China). Results: The rs2074733 alleleT and rs10376 alleleA in the SF3A1 gene were associated with increased TB susceptibility after adjusting for age and sex (Pa = 0.036 and 0.048, respectively). No significant association was found between rs117435254 and rs2839998 and tuberculosis infection. In subgroup analyses, we did not find a significant association between SF3A1 gene polymorphisms in patients with mild and severe tuberculosis. Conclusions: In our study, we found a statistically significant association between the two SNPs (rs2074733 and rs10376) in the SF3A1 gene and susceptibility to tuberculosis infection in a Chinese Han population. To the best of our knowledge, this is the first report on the relationship between the SF3A1 gene and TB.

Objectives: The association of ULK1 gene polymorphisms with susceptibility to tuberculosis or multisystem tuberculosis remains unclear. Methods: We used a case‒control study in a Chinese Han population and included 411 patients with multisystem tuberculosis and 581 healthy controls. Four tag polymorphisms of the ULK1 gene at loci rs9481, rs7138581, rs11616018 and rs1134574 were selected and genotyped using a SNPscan Kit (Cat#: G0104, Genesky Biotechnologies Inc., Shanghai, China). Results: The minor allele C of rs7138581 showed a significantly reduced risk of susceptibility to multisystemic tuberculosis (OR: 0.759, 95% CI: 0.597-0.965; P=0.025) and showed a significant association after adjusting for age and sex (ORa: 0.770, 95% CI: 0.605-0.980; Pa=0.034). In the analysis of the additive model and dominant model, rs7138581 still showed a significant reduction in the risk of multisystem tuberculosis after adjusting for age and sex (ORa: 0.761, 95% CI: 0.595-0.974; Pa=0.03 and ORa: 0.754, 95% CI: 0.573-0.993; Pa=0.044). Conclusions: rs7138581 of the ULK1 gene may be associated with multisystem tuberculosis susceptibility in the Chinese Han population.