Article
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 - 1 Apr 2009
Webb Ryan, Wren Jonathan D, Jeffries Matlock, Kelly Jennifer A, Kaufman Kenneth M, Tang Yuhong, Frank Mark Barton, Merrill Joan, Kimberly Robert P, Edberg Jeffrey C, Ramsey-Goldman Rosalind, Petri Michelle, Reveille John D, Alarcón Graciela S, Vilá Luis M, Alarcón-Riquelme Marta E, James Judith A, Vyse Timothy J, Moser Kathy L, Gaffney Patrick M, Gilkeson Gary S, Harley John B, Sawalha Amr H
Abstract excerpt
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 lupus-associated MECP2 haplotype. METHODS: We genotyped 18 single-nucleotide polymorphisms within MECP2,...
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