SLC11A1, solute carrier family 11 member 1, 6556

N. diseases: 141; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0037116
Disease:
Silicosis
0.010 GeneticVariation BEFREE No association of other polymorphisms (NRAMP1 D543N, TNF-alpha-308) and susceptibility to silicosis or PTB in Chinese miners was found. 17223386 2007
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0026916
Disease:
Mycobacterium avium-intracellulare Infection
0.010 GeneticVariation BEFREE As compared with homozygotes for major alleles of the D543N and TGTG insertion/deletion polymorphism of the NRAMP1 gene, heterozygotes containing minor alleles were less often observed in MAC cases than in controls. 17459898 2007
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0002871
Disease:
Anemia
0.010 GeneticVariation BEFREE Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribute to severity of anaemia in tuberculosis in the Indonesian population. 17466092 2007
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041327
Disease:
Tuberculosis, Pulmonary
0.090 GeneticVariation BEFREE Using polymerase chain reaction and the restriction fragment-length polymorphism analyses, we investigated four previously reported SLC11A1 polymorphisms, variations in 5'(GT)n, INT4, D543N, and 3'UTR in 95 patients with pulmonary tuberculosis including 10 MDR-TB patients. 17950034 2008
dbSNP: rs1059823
rs1059823
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE To test this hypothesis, we first examined the frequencies of 12 candidate polymorphisms in the SLC11A1 gene in 27 healthy Korean individuals, and then genotyped 3 haplotype-tagging polymorphisms [IVS4 + 14G > C (rs3731865), D543 N (rs17235409), and (*)86A > G (rs1059823)] in 83 COPD patients and 203 healthy controls. 18504650 2008
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE Three NRAMP1 polymorphisms [5'(GT)n, D543N, and INT4G/C] were significantly associated with CD. 18454481 2008
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0206526
Disease:
Tuberculosis, Multidrug-Resistant
0.010 GeneticVariation BEFREE Although the number of MDR-TB patients was small, our preliminary study showed that the variations of D543N and 3'UTR are significantly associated with the incidence of MDR-TB (odds ratio [OR]=5.03, 95% confidence interval [CI]=1.24-20.62; P=0.02), longer time to sputum culture conversion (OR=3.86, 95% CI=1.23-12.23; P=0.02), and cavity formation (OR=5.04, 95% CI=1.51-23.13; P=0.02). 17950034 2008
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0036421
Disease:
Systemic Scleroderma
0.010 GeneticVariation BEFREE We analyzed four natural resistance associated macrophage protein 1 (NRAMP1) gene polymorphisms including 5' promoter (GT)n microsatellite, INT4 (469 + 14G/C), 3'UTR (1729 + 55del4), and D543N (codon 543, Asp to Asn) in 52 systemic sclerosis patients with interstitial lung involvement and 136 healthy controls. 17876529 2008
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
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
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
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
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.030 GeneticVariation BEFREE We found a significant association between INT4 and RA (P = 0.004, odds ratio: 2.06, 95% CI: 1.24-3.41), but no significant differences between 5' promoter, D543N, 3'UTR polymorphisms and RA. 19055603 2009
dbSNP: rs3731865
rs3731865
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.030 GeneticVariation BEFREE SLC11A1 polymorphism rs3731865 was associated with TB in African-Americans, consistent with previous findings in West Africans. 19723394 2009
dbSNP: rs3731865
rs3731865
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.030 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
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0004943
Disease:
Behcet Syndrome
0.020 GeneticVariation BEFREE We analyzed the association of NRAMP1 polymorphisms [(GT)( n ), INT4, 3'UTR and D543N] in 102 Turkish patients with BS and 102 healthy subjects by using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). 18998137 2009
dbSNP: rs17235416
rs17235416
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.020 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
dbSNP: rs3731865
rs3731865
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.020 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
dbSNP: rs17235416
rs17235416
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 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
dbSNP: rs34448891
rs34448891
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 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
dbSNP: rs34448891
rs34448891
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.010 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
dbSNP: rs3731863
rs3731863
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0151332
Disease:
Active tuberculosis
0.010 GeneticVariation BEFREE Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions between SLC11A1 and inducible nitric oxide synthase (NOS2A) in Caucasians (rs3731863 [SLC11A1] x rs8073782 [NOS2A], P = 0.009; rs3731863 [SLC11A1] x rs17722851 [NOS2A], P = 0.007) and toll-like receptor 2 (TLR2) in African-Americans (rs3731865 [SLC11A1] x rs1816702, P = 0.005). 19723394 2009
dbSNP: rs3731863
rs3731863
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions between SLC11A1 and inducible nitric oxide synthase (NOS2A) in Caucasians (rs3731863 [SLC11A1] x rs8073782 [NOS2A], P = 0.009; rs3731863 [SLC11A1] x rs17722851 [NOS2A], P = 0.007) and toll-like receptor 2 (TLR2) in African-Americans (rs3731865 [SLC11A1] x rs1816702, P = 0.005). 19723394 2009
dbSNP: rs3731865
rs3731865
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0151332
Disease:
Active tuberculosis
0.010 GeneticVariation BEFREE SLC11A1 polymorphism rs3731865 was associated with TB in African-Americans, consistent with previous findings in West Africans. 19723394 2009
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0026769
Disease:
Multiple Sclerosis
0.010 GeneticVariation BEFREE No significant association was found between (GT)(n,) INT4, 3'UTR and D543N polymorphisms and MS. 20405176 2010
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
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
dbSNP: rs17235409
rs17235409
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
CUI: C0041327
Disease:
Tuberculosis, Pulmonary
0.090 GeneticVariation BEFREE NRAMP1 polymorphisms (3'UTR, D543N, INT4) were evaluated among 142 patients with culture-positive pulmonary tuberculosis and 144 ethnically matched healthy controls having latent M. tuberculosis infection. 21169917 2011