Abstract
BackgroundTuberculosis (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.MethodsWe 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.ResultsOnly 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).ConclusionOur 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.
Highlights
Tuberculosis (TB) remains a global health problem
A significant and positive association was found between the CT genotype and an increased risk of pulmonary TB (PTB) development (41.8% vs 27%, odds ratio (OR) 1.95, 95% confidence interval (CI) 1.16–3.27; p = 0.01)
We report for the first time a strong association between the rs1050504 Neutral sphingomyelinase activation associated factor (NSMAF) polymorphism and PTB disease in the Moroccan population
Summary
Tuberculosis (TB) remains a global health problem. Tuberculosis (TB) is one of the oldest infectious diseases that is still a serious health challenge in the developing world. According to a recent report published by the World Health Organization, TB killed 1.5 million people in 2015 [1]. TB is a multifactorial disease, and identifying host genes that determine its susceptibility is far from an easy task. For this reason, candidate gene studies are receiving increasing attention in genetic epidemiology. Candidate gene studies are receiving increasing attention in genetic epidemiology This method begins with the selection of a putative candidate gene followed by the selection of genetic polymorphisms based on its predicted function. By focusing directly on genetic variations within a gene of interest, this approach offers considerable advantages in terms of detecting disease-associated genes [3,4,5]
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