Association between a single nucleotide polymorphism of the SF3A1 gene and tuberculosis in a Chinese Han population: a case‒control study

Abstract

Abstract 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.