title: Common variants within MECP2 confer risk of systemic lupus erythematosus.
abstract: Systemic lupus erythematosus (SLE) is a predominantly female autoimmune disease that affects multiple organ systems. Herein, we report on an X-chromosome gene association with SLE. Methyl-CpG-binding protein 2 (MECP2) is located on chromosome Xq28 and encodes for a protein that plays a critical role in epigenetic transcriptional regulation of methylation-sensitive genes. Utilizing a candidate gene association approach, we genotyped 21 SNPs within and around MECP2 in SLE patients and controls. We identify and replicate association between SLE and the genomic element containing MECP2 in two independent SLE cohorts from two ethnically divergent populations. These findings are potentially related to the overexpression of methylation-sensitive genes in SLE.
authors.affiliation: Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA. amr-sawalha@omrf.ouhsc.edu
authors.forename: Amr H
authors.initials: AH
authors.lastname: Sawalha
authors.forename: Ryan
authors.initials: R
authors.lastname: Webb
authors.forename: Shizhong
authors.initials: S
authors.lastname: Han
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Kelly
authors.forename: Kenneth M
authors.initials: KM
authors.lastname: Kaufman
authors.forename: Robert P
authors.initials: RP
authors.lastname: Kimberly
authors.forename: Marta E
authors.initials: ME
authors.lastname: Alarcón-Riquelme
authors.forename: Judith A
authors.initials: JA
authors.lastname: James
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Vyse
authors.forename: Gary S
authors.initials: GS
authors.lastname: Gilkeson
authors.forename: Chan-Bum
authors.initials: CB
authors.lastname: Choi
authors.forename: R Hal
authors.initials: RH
authors.lastname: Scofield
authors.forename: Sang-Cheol
authors.initials: SC
authors.lastname: Bae
authors.forename: Swapan K
authors.initials: SK
authors.lastname: Nath
authors.forename: John B
authors.initials: JB
authors.lastname: Harley
mesh_terms: D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2