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Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus
  1. G Orozco1,*,
  2. E Sánchez1,*,
  3. L M Gómez2,
  4. M A González-Gay3,
  5. M A López-Nevot4,
  6. B Torres5,
  7. N Ortego-Centeno6,
  8. J Jiménez-Alonso7,
  9. E de Ramón8,
  10. J Sánchez Román9,
  11. J M Anaya10,
  12. G Sturfelt11,
  13. I Gunnarsson12,
  14. E Svennungsson12,
  15. M Alarcón-Riquelme13,
  16. M F González-Escribano5,
  17. J Martín1
  1. 1Instituto de Parasitología y Biomedicina, CSIC, Granada, Spain
  2. 2Unidad de Biología Celular e Inmunología, Corporación Para Investigaciones Biológicas (CIB) and Universidad de Antioquia, Medellin, Colombia
  3. 3Servicio de Reumatología, Hospital Xeral-Calde, Lugo, Spain
  4. 4Servicio de Inmunología, Hospital Virgen de las Nieves, Granada, Spain
  5. 5Servicio de Inmunología, Hospital Virgen del Rocío, Sevilla, Spain
  6. 6Servicio de Medicina Interna, Hospital San Cecilio, Granada, Spain
  7. 7Servicio de Medicina Interna, Hospital Virgen de las Nieves, Granada, Spain
  8. 8Servicio de Medicina Interna, Hospital Carlos Haya, Málaga, Spain
  9. 9Servicio de Medicina Interna, Hospital Virgen del Rocio, Sevilla, Spain
  10. 10Unidad de Biología Celular e Inmunología, CIB, Universidad del Rosario, Medellin, Colombia
  11. 11Department of Rheumatology, Lund University Hospital, Lund, Sweden
  12. 12Unit for Rheumatology, Karolinska University Hospital, Solna, Sweden
  13. 13Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Uppsala, Sweden
  1. Correspondence to:
    Dr Javier Martín
    Instituto de Parasitología y Biomedicina, CSIC, Parque Tecnológico de Ciencias de la Salud, Avenida del Conocimiento s/n 18100-Armilla, Granada, Spain; martin{at}


Background: Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin-like modifier 4 (SUMO4) genes have been shown to be associated with several autoimmune diseases.

Objective: To test the possible role of these variants in susceptibility to or severity of systemic lupus erythematosus (SLE), on the basis that common genetic bases are shared by autoimmune disorders.

Methods: 597 SLE patients and 987 healthy controls of white Spanish origin were studied. Two additional cohorts of 228 SLE patients from Sweden and 122 SLE patients from Colombia were included. A case–control association study was carried out with six single nucleotide polymorphisms (SNP) spanning the SLC22A4 gene, one SNP in RUNX1 gene, and one additional SNP in SUM04 gene.

Results: No significant differences were observed between SLE patients and healthy controls when comparing the distribution of the genotypes or alleles of any of the SLC22A4, RUNX1, or SUMO4 polymorphisms tested. Significant differences were found in the distribution of the SUMO4 genotypes and alleles among SLE patients with and without nephritis, but after multiple testing correction, the significance of the association was lost. The association of SUMO4 with nephritis could not be verified in two independent SLE cohorts from Sweden and Colombia.

Conclusions: These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analysed do not play a role in the susceptibility to or severity of SLE.

  • SLE, systemic lupus erythematosus
  • SNP, single nucleotide polymorphism
  • systemic lupus erythematosus
  • nephritis
  • SLC22A4 gene
  • RUNX1 gene
  • SUMO4 gene

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