New variant identified in major susceptibility locus to tuberculosis on chromosomal region 8q12-q13 in Moroccan population: a case control study

BMC Infect Dis. 2017 Nov 7;17(1):712. doi: 10.1186/s12879-017-2807-9.


Background: Tuberculosis (TB) remains a global health problem. Several studies have implicated genetic host factors in predisposing populations to TB disease. In this study, we have selected NSMAF (Neutral Sphingomyelinase Activation Associated Factor) as a candidate gene to evaluate its level of association with TB disease in a Moroccan population for two reasons: first, this gene is located in a major susceptibility locus on chromosomal region 8q12-q13 in the Moroccan population, closely linked to the CYP7A1 gene, which was previously shown to be associated with TB disease; second, NSMAF has an important role in immune system function.

Methods: We conducted a case-control study including 269 genomic DNA samples extracted from pulmonary TB (PTB) patients and healthy controls (HC). We genotyped three selected SNPs (rs2228505, rs36067275 and rs10505004) using TaqMan® allelic discrimination assays.

Results: Only the rs1050504 C > T genotype was observed to be significantly associated with an increased risk for developing pulmonary TB (41.8% vs 27%, OR 1.95, 95% CI 1.16-3.27; p = 0.01). In contrast, the TT genotype was significantly associated with resistance to PTB (4.1% vs 15.6%, OR 0.23, 95% CI 0.08-0.63; p = 0.002).

Conclusion: Our findings suggest that genetic variations in the NSMAF gene could modulate the risk of PTB development in a Moroccan population. Further functional studies are needed to confirm these findings.

Keywords: Apoptosis; Moroccan; NSMAF; Tuberculosis.

MeSH terms

  • Adult
  • Alleles
  • Black People / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 8*
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Genotype
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Middle Aged
  • Morocco
  • Polymorphism, Single Nucleotide
  • Tuberculosis, Pulmonary / diagnosis
  • Tuberculosis, Pulmonary / genetics*


  • Intracellular Signaling Peptides and Proteins
  • NSMAF protein, human