rs17235409, SLC11A1

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE Among the subjects, D543N NRAMP1 polymorphism, history of contact with TB patients, and not having a clear BCG scar on the upper arm tended to be significantly association with active TB. 25596570 2015
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE Further, significant associations were identified between the 469+14G/C, 1730G/A and 1729+55del4 polymorphisms (rs3731865, rs17235409 and rs17235416, respectively) and both infectious disease per se and tuberculosis. 25856512 2015
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE Susceptibility to TB-IRD associated with carriage of TNFA-1031*T (rs1799964; P=0.05) and SLC11A1 D543N*G (rs17235409; P=0.04) in Cambodian patients and carriage of IL18-607*G (rs1946518; P=0.02) and VDR FokI (F/f)*T (rs10735810; P=0.05) in Indian patients. 23594560 2013
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE In further stratified analyses by ethnicity and TB forms, significant increased risks were found in subgroups of Asians and in pulmonary TB (PTB) for all four polymorphisms, while an increased risk of extra-pulmonary TB (EPTB) was found for D543N polymorphism. 22326178 2012
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE The distribution of 3'-UTR and D543N polymorphisms in 223 TB patients (168 patients with pulmonary TB (PTB) and 55 patients with extrapulmonary TB (EPTB)) and 150 healthy donors was determined by PCR-restriction fragment length polymorphism (RFLP) method. 22609013 2012
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE In Meta-analysis, significant associations were observed between tuberculosis risk and widely studied SLC11A1 polymorphisms with summarized odds ratio of 1.35 (95%CI, 1.17-1.54), 1.25 (95% CI, 1.04-1.50), 1.23 (95% CI, 1.04-1.44), 1.31 (95%CI, 1.08-1.59) for 3' UTR, D543N, INT4, and 5' (GT)n, respectively. 21283567 2011
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE The M. tuberculosis Beijing genotype, which comprised 29.8% of all isolates, was strongly associated with 2 polymorphisms in SLC11A1: the D543N G allele (odds ratio [OR], 2.15; P=.005) and the 3' untranslated region (3'UTR) insertion/insertion genotype (OR, 2.5; P=.001). 19863441 2009
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE We analysed four NRAMP1 gene polymorphisms including 5' promoter (GT)(n) (rs34448891), INT4 (469 + 14G/C) (rs3731865), 3'UTR (1729 + 55del4) (rs17235416) and D543N (codon 543, Asp to Asn) (rs17235409) in 112 patients with TB, 98 patients with RA, 80 healthy controls for TB and 122 healthy controls for RA using ARMS-PCR and PCR-RFLP. 19055603 2009
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE To explore the potential role of these genes in the susceptibility to pulmonary tuberculosis in a Mexican mestizo population, we evaluated the association of D543N and 3'-UTR polymorphisms in NRAMP1/SLC11 A1 and - 762 and A1513C polymorphisms in P2X(7) genes with the risk for tuberculosis. 17493019 2007
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE The distribution of three polymorphisms in the natural resistance-associated macrophage protein gene (NRAMP1) including INT4, D543N and 3'UTR was examined for a possible association with susceptibility to TB. 17466092 2007
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE To study the variations in the NRAMP1 gene using five genotypes (274C/T, 577-18G/A, A318V, D543N and 3' untranslated region [UTR]), and the susceptibility of tuberculosis and HIV infection in Taiwanese. 12019922 2002
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE Heterozygosity for the -1082 polymorphism of the IL-10 promoter and heterozygosity for 2 linked polymorphic NRAMP1 variants, D543N and 3' untranslated region, were associated with TB susceptibility and resistance, respectively. 12404162 2002
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.100 GeneticVariation BEFREE We investigated by polymerase chain reaction previously published Nramp1 genotypes at 4 loci-INT4, N543D, 3'UTR, and 5'(CA)(n) microsatellite markers-in 104 human immunodeficiency virus-negative patients with tuberculosis and 176 healthy control subjects living in Denmark. 12195379 2002