Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus

Ryan Webb, Jonathan D. Wren, Matlock Jeffries, Jennifer A. Kelly, Kenneth M. Kaufman, Yuhong Tang, Mark Barton Frank, Joan Merrill, Robert P. Kimberly, Jeffrey C. Edberg, Rosalind Ramsey-Goldman, Michelle Petri, John D. Reveille, Graciela S. Alarcón, Luis M. Vilá, Marta E. Alarcón-Riquelme, Judith A. James, Timothy J. Vyse, Kathy L. Moser, Patrick M. GaffneyGary S. Gilkeson, John B. Harley, Amr H. Sawalha

Research output: Contribution to journalArticle

68 Scopus citations

Abstract

Objective. Both genetic and epigenetic factors play an important role in the pathogenesis of lupus. The aim of this study was to examine methyl-CpG-binding protein 2 gene (MECP2) polymorphisms in a large cohort of patients with lupus and control subjects, and to determine the functional consequences of the lupusassociated MECP2 haplotype. Methods. We genotyped 18 single-nucleotide polymorphisms within MECP2, located on chromosome Xq28, in a large cohort of patients with lupus and control subjects of European descent. We studied the functional effects of the lupus-associated MECP2 hap-

Original languageEnglish (US)
Pages (from-to)1076-1084
Number of pages9
JournalArthritis and rheumatism
Volume60
Issue number4
DOIs
StatePublished - Apr 2009

ASJC Scopus subject areas

  • Immunology and Allergy
  • Rheumatology
  • Immunology
  • Pharmacology (medical)

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    Webb, R., Wren, J. D., Jeffries, M., Kelly, J. A., Kaufman, K. M., Tang, Y., Frank, M. B., Merrill, J., Kimberly, R. P., Edberg, J. C., Ramsey-Goldman, R., Petri, M., Reveille, J. D., Alarcón, G. S., Vilá, L. M., Alarcón-Riquelme, M. E., James, J. A., Vyse, T. J., Moser, K. L., ... Sawalha, A. H. (2009). Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. Arthritis and rheumatism, 60(4), 1076-1084. https://doi.org/10.1002/art.24360