title: The Role of NRAMP1/SLC11A1 Gene Variant D543N (1730G/A) in the Genetic Susceptibility to Develop Rheumatoid Arthritis in the Mexican Mestizo population.
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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratory of Genetics and Molecular Diagnostics, Faculty of Chemical Sciences, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.|Research Center for Health Sciences and Biomedicine, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.
authors.forename: Perla
authors.initials: P
authors.lastname: Niño-Moreno
authors.affiliation: Laboratory of Genetics and Molecular Diagnostics, Faculty of Chemical Sciences, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.
authors.forename: Edgar
authors.initials: E
authors.lastname: Turrubiartes-Martínez
authors.affiliation: Laboratory of Genetics and Molecular Diagnostics, Faculty of Chemical Sciences, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.
authors.forename: Brenda
authors.initials: B
authors.lastname: Oceguera-Maldonado
authors.affiliation: Laboratory of Genetics and Molecular Diagnostics, Faculty of Chemical Sciences, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.
authors.forename: Nubia
authors.initials: N
authors.lastname: Baltazar-Benítez
authors.affiliation: Laboratory of Genetics and Molecular Diagnostics, Faculty of Chemical Sciences, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.
authors.forename: Cindy
authors.initials: C
authors.lastname: Negrete-González
authors.affiliation: Laboratory of Genetics and Molecular Diagnostics, Faculty of Chemical Sciences, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.
authors.forename: Brenda
authors.initials: B
authors.lastname: Oliva-Ramírez
authors.affiliation: Research Center for Health Sciences and Biomedicine, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.|Department of Immunology, Faculty of Medicine, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.|Regional Unit of Rheumatology and Osteoporosis, Hospital Central Dr. Ignacio Morones Prieto, San Luis Potosí, S.L.P., Mexico.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Baranda
authors.affiliation: Research Center for Health Sciences and Biomedicine, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.|Department of Immunology, Faculty of Medicine, Universidad Autónoma de San Luis Potosí, San Luis Potosí, S.L.P., Mexico.
authors.forename: Roberto
authors.initials: R
authors.lastname: González-Amaro
mesh_terms: D000293:Adolescent; D000328:Adult; D001172:Arthritis, Rheumatoid / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology*; D006801:Humans; D008297:Male; D008800:Mexico; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D055815:Young Adult; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1