Polymorphisms of SLC11A1(NRAMP1) rs17235409 associated with and susceptibility to spinal tuberculosis in a southern Han Chinese population

Objective: To investigate the association between SLC11A1 (NRAMP1) rs17235409 (D543N) polymorphisms and susceptibility to spinal tuberculosis (STB) in the Han population in southern China.

Methods: This study included 227 STB patients and 516 controls. Polymorphisms of SLC11A1 rs17235409 were genotyped using a SNPscan™ kit, and the protein was detected by western blotting.

Results: The genotype and allele frequency distributions of SLC11A1 rs17235409 differed significantly between the STB group and the control group(χ² = 17.650, P = 0.000). The distribution of GA genotype(GA vs. GG: P = 0.000, OR [95% CI] = 2.203[1.520-3.192] was significantly different between STB group and control group, but there was no significant difference in the distribution of AA genotypes(AA vs. GG: P = 0.889, OR [95%CI] = 0.674[0.142-3.208]). The A allele was more common in the STB group than in the control group (A vs. G: P = 0.001, OR [95%CI] = 1.767[1.273-2.452]). Under the dominant model, the GA + AA genotype was more common in the STB group than in the control group (GA + AA vs. GG: P = 0.000, OR [95%CI] = 2.067[1.438-2.971]). However, under the recessive model, there was no difference in GA + GG genotype between the STB and control groups(GA + GG vs. AA: P = 0.701, OR [95%CI] =1.772[0.373-8.409]). NRAMP1 protein expression in the STB group(n = 9) was significantly higher than that in the control group(n = 9) (t = 5.292,P = 0.001).

Conclusions: Variant genotypes at the rs17235409 locus of the SLC11A1 gene are associated with STB in the southern Han Chinese population. NRAMP1 protein expression is increased in patients with spinal tuberculosis, and the presence of the A allele increases the risk of developing STB.