NRAMP1 and VDR gene polymorphisms have been variably associated with susceptibility to tuberculosis (TB) amongst populations having different genetic background. NRAMP1 and VDR gene variants’ association with susceptibility to active infection by Mycobacterium tuberculosis (Mtb) was analyzed in the Warao Amerindian population, an ethnic population from Venezuela’s Orinoco delta region. Genomic DNA was extracted from individuals with and without TB to evaluate genetic polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Four NRAMP1 gene polymorphisms were analyzed: D543N (rs17235409), 3′ UTR (rs17235416), INT4 (rs3731865), and 274C/T (rs2276631), and one VDR gene polymorphism: FokI (rs2228570). The results showed that the genotypes D543N-A/A, 3′UTR-TGTG+/+, INT4-C/C, and 274C/T-T/T of known polymorphism in the NRAMP1 gene, as well as the genotypes FokI-F/f and FokI-f/f in the VDR gene were most often found in indigenous Warao with active TB. Binomial logistic regression was used for evaluating associations between polymorphisms and risk of contracting TB, an association between NRAMP1-D543N-A/A genotype distribution and TB susceptibility was found in Warao Amerindians. Regarding Venezuelan populations having different genetic backgrounds; statistically significant TB associations concerning NRAMP1-D543N-A/A, INT4-C/C and 3′UTR-TGTG+/+ variant genotype distributions in Warao Amerindians (indigenous) compared to Creole (admixed non-indigenous population) individuals were found. In conclusion, the results thus indicated that the association between NRAMP1-D543N-A/A genotype and TB in Warao Amerindians could support such allele’s role in host susceptibility to Mtb infection.

NRAMP1和VDR基因多态性与具有不同遗传背景的人群对结核病 (TB) 的易感性存在不同的相关性。在来自委内瑞拉奥里诺科三角洲地区的瓦劳美洲印第安人群体中，分析了NRAMP1和VDR基因变异与结核分枝杆菌( Mtb )活动性感染易感性的关联。从患有和未患有结核病的个体中提取基因组DNA，通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）评估遗传多态性。分析了四种NRAMP1基因多态性：D543N (rs17235409)、3' UTR (rs17235416)、INT4 (rs3731865) 和 274C/T (rs2276631)，以及一种VDR基因多态性：FokI (rs2228570)。结果显示，NRAMP1基因中已知多态性的基因型为D543N-A/A、3′UTR-TGTG+/+、INT4-C/C、274C/TT/T，以及FokI-F/f基因型。VDR基因中的 FokI-f/f 和 FokI-f/f最常见于患有活动性结核病的土著瓦劳人。二项式逻辑回归用于评估多态性与感染结核病风险之间的关联，在瓦劳美洲印第安人中发现NRAMP1- D543N-A/A 基因型分布与结核病易感性之间存在关联。关于具有不同遗传背景的委内瑞拉人口；与克里奥尔人（混合非土著人群）相比，瓦劳美洲印第安人（土著）的 NRAMP1 -D543N-A/A、INT4-C/C 和 3'UTR-TGTG+/+ 变异基因型分布与结核病相关性具有统计学意义。总之，结果表明，Warao美洲印第安人中NRAMP1- D543N-A/A基因型与结核病之间的关联可能支持该等位基因在宿主对结核分枝杆菌感染的易感性中的作用。