The role of NRAMP1/SLC11A1 gene variant D543N (1730G/A) in the genetic susceptibility to develop Rheumatoid arthritis in the Mexican Mestizo population
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Background: Rheumatoid arthritis is a chronic inflammatory disease whose cause has not been fully elucidated. However, genetic factors seem to have an important role in its pathogenesis. Objective: We analyzed the possible association between rheumatoid arthritis and variants of the SLC11A1 gene, which encodes for NRAMP1, a protein involved in the activation of phagocytes and synthesis of proinflammatory cytokines. Methods: In a case-control study in a Mexican Mestizo population, blood samples from 188 patients with rheumatoid arthritis and 133 healthy individuals were obtained to determine the frequency of SLC11A1 gene variants INT4 (469%2b14G/C or rs373186S), D543N (1730G/A or rsl723S409) and 3%27UTR (1729%2b55del4 or rsl723S416) by polymerase chain reaction and restriction fragment length polymorphism. Results: We found similar frequencies of INT4 and 3%27UTR polymorphisms in patients and controls (p = 0.18 and 0.89, respectively). In contrast, a significantly lower frequency of the DS43N polymorphism was observed in patients with rheumatoid arthritis compared to controls (p corrected = 0.016; OR: 0.48; 95%25 CI: 0.28-0.80). Conclusion: Our data suggest that the D543N variant of SLC11A1 gene has a protective effect in the development of rheumatoid arthritis, an interesting finding that has not been previously reported in any population. (REV INVES CLIN. 2017;69:5-10).
Background: Rheumatoid arthritis is a chronic inflammatory disease whose cause has not been fully elucidated. However, genetic factors seem to have an important role in its pathogenesis. Objective: We analyzed the possible association between rheumatoid arthritis and variants of the SLC11A1 gene, which encodes for NRAMP1, a protein involved in the activation of phagocytes and synthesis of proinflammatory cytokines. Methods: In a case-control study in a Mexican Mestizo population, blood samples from 188 patients with rheumatoid arthritis and 133 healthy individuals were obtained to determine the frequency of SLC11A1 gene variants INT4 (469%2b14G/C or rs373186S), D543N (1730G/A or rsl723S409) and 3'UTR (1729%2b55del4 or rsl723S416) by polymerase chain reaction and restriction fragment length polymorphism. Results: We found similar frequencies of INT4 and 3'UTR polymorphisms in patients and controls (p = 0.18 and 0.89, respectively). In contrast, a significantly lower frequency of the DS43N polymorphism was observed in patients with rheumatoid arthritis compared to controls (p corrected = 0.016; OR: 0.48; 95%25 CI: 0.28-0.80). Conclusion: Our data suggest that the D543N variant of SLC11A1 gene has a protective effect in the development of rheumatoid arthritis, an interesting finding that has not been previously reported in any population. (REV INVES CLIN. 2017;69:5-10).
