The SLC11A1 gene has been reported to play a role in neutrophil function and is associated with susceptibility to infectious and inflammatory diseases such as tuberculosis or rheumatoid arthritis.
Correlation of Polymorphisms of Natural Resistance-Associated Macrophage Protein 1 (NRAMP1) Gene and Smoking with the Risk of Rheumatoid Arthritis in Chinese Han People.
Genotypic analysis demonstrated that there were no associations between RA and NRAMP1D543N, 1729 + 55del4 and INT4 in homozygous comparison (D543N: OR 0.97, 95% CI 0.15-6.09; 1729 + 55del4: OR 1.19, 95% CI 0.29-24.88; INT4: OR 3.18, 95% CI 0.62-16.26), dominant model (D543N: OR 1.04, 95% CI 0.61-61.78; 1729 + 55del4: OR 1.41, 95% CI 0.81-2.47; INT4: OR 1.22, 95% CI 0.72-2.06) and recessive model (D543N: OR 0.93, 95% CI 0.15-5.91; 1729 + 55del4: OR 0.99, 95% CI 0.26-3.86; INT4: OR 2.95, 95% CI 0.61-14.16).
Similarly, no significant differences were observed between NRAMP1 polymorphisms and rheumatoid factor positivity and erosive disease in RA and localization of TB.
Iron and infection: effects of host iron status and the iron-regulatory genes haptoglobin and NRAMP1 (SLC11A1) on host-pathogen interactions in tuberculosis and HIV.
Functional polymorphism in Z-DNA-forming motif of promoter of SLC11A1 gene and type 1 diabetes in Japanese subjects: association study and meta-analysis.
Recent advances in the analysis of genetic polymorphisms associated with disease have identified several genes linked to RA susceptibility that encode proteins involved in the immune response to Mycobacterium tuberculosis infection, including TNF-alpha, NRAMP1, PARP-1, HLA-DRB1, and PADI4.
SLC11A1 regulates macrophage functions that are of potential importance in the induction and/or maintenance of autoimmune diseases such as rheumatoid arthritis, type I diabetes and Crohn's disease.
In conclusion, NRAMP1 gene promoter polymorphism could influence the radiological severity of rheumatoid arthritis and disease susceptibility, particularly in individuals lacking HLA-linked risk factors.
Recent genetic studies have found that allelic variants at the human NRAMP1 locus are associated with susceptibility to leprosy (Mycobacterium leprae) and tuberculosis (Mycobacterium tuberculosis) and possibly with the onset of rheumatoid arthritis.
Two dinucleotide markers, D2S1471, a highly polymorphic marker within 160 kb of NRAMP1, and a less polymorphic marker in the promoter region of NRAMP1, have been analyzed in 115 affected sib-pair RA families (35 with 2 parents, 18 with one parent) from the Arthritis and Rheumatism Council (ARC) National Repository and an additional 85 probands from the ARC National Twin Study and 96 controls.
Identity by descent (IBD) sib pair analysis using a three locus haplotype NRAMP1-IL8RB-VIL1, or NRAMP1 alone, provided preliminary evidence (maximum lod score = 1.01, p = 0.024) for a gene in this region contributing to suceptibility to rheumatoid arthritis.