1. Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus
- Author
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Juan-Manuel Anaya, Iva Gunnarsson, E de Ramón, Gisela Orozco, Norberto Ortego-Centeno, M. Á González-Gay, Luis Miguel Gómez, M F González-Escribano, Marta E. Alarcón-Riquelme, Miguel A. López-Nevot, J Sánchez Román, Elena Sánchez, Javier Martin, Juan Jiménez-Alonso, Belén Torres, Gunnar Sturfelt, and E Svennungsson
- Subjects
Male ,Unclassified drug ,Protein slc22a4 ,RUNX1 Translocation Partner 1 Protein ,Genotype ,Autoimmune disease ,Odds Ratio ,Immunology and Allergy ,Lupus Erythematosus, Systemic ,skin and connective tissue diseases ,Middle aged ,Priority journal ,Genetics ,Allele ,Nephritis ,Symporters ,Gene linkage disequilibrium ,Odds ratio ,Middle Aged ,Proteína 1 Compañera de Translocación de RUNX1 ,Connective tissue disease ,Extended Report ,Core binding factor alpha 2 subunit ,Core Binding Factor Alpha 2 Subunit ,Small Ubiquitin-Related Modifier Proteins ,Female ,Human ,Adult ,medicine.medical_specialty ,Organic Cation Transport Proteins ,Immunology ,Genetic predisposition to disease ,Organic cation transport proteins ,Single-nucleotide polymorphism ,Major clinical study ,Case-control studies ,Colombia ,Sumo protein ,General Biochemistry, Genetics and Molecular Biology ,Article ,Systemic lupus erythematosus ,Rheumatology ,Internal medicine ,medicine ,Genetic susceptibility ,SNP ,Transcription factor runx1 ,Humans ,Genetic Predisposition to Disease ,Polymorphism ,Disease severity ,Alleles ,Sweden ,Lupus erythematosus ,Chi-Square Distribution ,Polymorphism, Genetic ,business.industry ,Lupus Eritematoso Sistémico ,Case-control study ,systemic ,medicine.disease ,Chi-square distribution ,Single nucleotide polymorphism ,Small ubiquitin-related modifier proteins ,Spain ,Membrane protein ,Case-Control Studies ,genetic ,business ,Controlled study - Abstract
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.
- Published
- 2005