A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus

S. Wang, I. Adrianto, G. B. Wiley, C. J. Lessard, J. A. Kelly, A. J. Adler, S. B. Glenn, A. H. Williams, J. T. Ziegler, M. E. Comeau, M. C. Marion, B. E. Wakeland, C. Liang, K. M. Kaufman, J. M. Guthridge, M. E. Alarcón-Riquelme, G. S. Alarcón, J. M. Anaya, S. C. Bae, J. H. KimY. B. Joo, S. A. Boackle, E. E. Brown, M. A. Petri, R. Ramsey-Goldman, J. D. Reveille, L. M. Vilá, L. A. Criswell, J. C. Edberg, B. I. Freedman, G. S. Gilkeson, C. O. Jacob, J. A. James, D. L. Kamen, R. P. Kimberly, J. Martin, J. T. Merrill, T. B. Niewold, B. A. Pons-Estel, R. H. Scofield, A. M. Stevens, B. P. Tsao, T. J. Vyse, C. D. Langefeld, J. B. Harley, E. K. Wakeland, K. L. Moser, C. G. Montgomery, P. M. Gaffney

Resultado de la investigación: Contribución a una revistaArtículo

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Resumen

Systemic lupus erythematosus (SLE) is an autoimmune disease with diverse clinical manifestations characterized by the development of pathogenic autoantibodies manifesting in inflammation of target organs such as the kidneys, skin and joints. Genome-wide association studies have identified genetic variants in the UBE2L3 region that are associated with SLE in subjects of European and Asian ancestry. UBE2L3 encodes an ubiquitin-conjugating enzyme, UBCH7, involved in cell proliferation and immune function. In this study, we sought to further characterize the genetic association in the region of UBE2L3 and use molecular methods to determine the functional effect of the risk haplotype. We identified significant associations between variants in the region of UBE2L3 and SLE in individuals of European and Asian ancestry that exceeded a Bonferroni-corrected threshold (P
Idioma originalInglés estadounidense
Páginas (desde-hasta)380-387
Número de páginas8
PublicaciónGenes and Immunity
DOI
EstadoPublicada - jul 1 2012

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Wang, S., Adrianto, I., Wiley, G. B., Lessard, C. J., Kelly, J. A., Adler, A. J., Glenn, S. B., Williams, A. H., Ziegler, J. T., Comeau, M. E., Marion, M. C., Wakeland, B. E., Liang, C., Kaufman, K. M., Guthridge, J. M., Alarcón-Riquelme, M. E., Alarcón, G. S., Anaya, J. M., Bae, S. C., ... Gaffney, P. M. (2012). A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus. Genes and Immunity, 380-387. https://doi.org/10.1038/gene.2012.6