ArticleArthritis and rheumatism2009
Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.
Article in Arthritis and rheumatism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 87 citations in OpenAlex.
- The Role of MECP2 and CCR5 Polymorphisms on the Development and Course of Systemic Lupus Erythematosus.Biomolecules · 2020Trial
- Immunomodulation of behavior impairment via spleen-specific targeting lipid nanoparticles in a MeCP2 transgenic mouse model.Scientific reports · 2025Article
- Review
- Autoimmune and neuropsychiatric phenotypes in aFrontiers in immunology · 2024Article
- Review
- Ancestry-dependent genetic structure of the Xq28 risk haplotype in the Mexican population and its association with childhood-onset systemic lupus erythematosus.Frontiers in medicine · 2022Article
- Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans.Frontiers in immunology · 2022Review
- Prognostic Impact of Genetic Variants of MECP2 and TIRAP on Clinical Outcomes of Systemic Lupus Erythematosus with and without Nephritis.Biomolecules · 2021Article
- MeCP2 deficiency exacerbates the neuroinflammatory setting and autoreactive response during an autoimmune challenge.Scientific reports · 2021Article
- Understanding the genetics of systemic lupus erythematosus using Bayesian statistics and gene network analysis.Clinical and experimental pediatrics · 2021Article
- Altered inflammasome machinery as a key player in the perpetuation of Rett syndrome oxinflammation.Redox biology · 2020Article
- When the balance is broken: X-linked gene dosage from two X chromosomes and female-biased autoimmunity.Journal of leukocyte biology · 2019Review
- Systemic lupus erythematosus: genetic variants in Xq28 region.Reumatologia · 2019Article
- Correlations of Expression Levels of a Panel of Genes (BioMed research international · 2019Article
- Methyl-CpG-binding protein 2 mediates antifibrotic effects in scleroderma fibroblasts.Annals of the rheumatic diseases · 2018Article
- Defective regulation of L1 endogenous retroelements in primary Sjogren's syndrome and systemic lupus erythematosus: Role of methylating enzymes.Journal of autoimmunity · 2018Article
- When the Lyon(ized chromosome) roars: ongoing expression from an inactive X chromosome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
- Epigenetic Variability in Systemic Lupus Erythematosus: What We Learned from Genome-Wide DNA Methylation Studies.Current rheumatology reports · 2017Review
- Downregulation of microRNA-27b-3p enhances tamoxifen resistance in breast cancer by increasing NR5A2 and CREB1 expression.Cell death & disease · 2016Article
- Unexpected cellular players in Rett syndrome pathology.Neurobiology of disease · 2016Review
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Authors and funding
23 authors at 11 institutions in 4 countries.
Funding
Abstract
objectiveBoth 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.
methodsWe 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 haplotype by determining gene expression profiles in B cell lines in female lupus patients with and those without the lupus-associated MECP2 risk haplotype.
resultsWe confirmed, replicated, and extended the genetic association between lupus and genetic markers within MECP2 in a large independent cohort of lupus patients and control subjects of European descent (odds ratio 1.35, P = 6.65 x 10(-11)). MECP2 is a dichotomous transcription regulator that either activates or represses gene expression. We identified 128 genes that are differentially expressed in lupus patients with the disease-associated MECP2 haplotype; most ( approximately 81%) were up-regulated. Genes that were up-regulated had significantly more CpG islands in their promoter regions compared with genes that were down-regulated. Gene ontology analysis using the differentially expressed genes revealed significant association with epigenetic regulatory mechanisms, suggesting that these genes are targets for MECP2 regulation in B cells. Furthermore, at least 13 of the 104 up-regulated genes are regulated by interferon. The disease-risk MECP2 haplotype was associated with increased expression of the MECP2 transcription coactivator CREB1 and decreased expression of the corepressor histone deacetylase 1.
conclusionPolymorphism in the MECP2 locus is associated with lupus and, at least in part, contributes to the interferon signature observed in lupus patients.
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