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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2017, Number 1

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Rev Invest Clin 2017; 69 (1)

The Role of NRAMP1/SLC11A1 Gene Variant D543N (1730G/A) in the Genetic Susceptibility to Develop Rheumatoid Arthritis in the Mexican Mestizo population

Niño-Moreno P, Turrubiartes-Martínez E, Oceguera-Maldonado B, Baltazar-Benítez N, Negrete-González C, Oliva-Ramírez B, Baranda L, González-Amaro R

Language: English
References: 28
Page: 5-10
PDF size: 173.76 Kb.


ABSTRACT

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+14G/C or rs3731865), D543N (1730G/A or rs17235409) and 3’UTR (1729+55del4 or rs17235416) 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 D543N polymorphism was observed in patients with rheumatoid arthritis compared to controls (p corrected = 0.016; OR: 0.48; 95% 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.


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