MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Lupus Erythematosus, Systemic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 AlteredExpression disease BEFREE A strong positive correlation was demonstrated between L1 transcripts and gene products that mediate de novo and constitutive DNA methylation, DNA methyltransferase (DNMT)3B, DNMT1, and methyl CpG binding protein 2 (MeCP2), in both SS MSG and lupus renal tissues. 29074164 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE Association of the L1CAM-MECP2 region with SLE was reported previously. 25149475 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE A statistically significant difference was observed in the rs2239464 and rs2075596 polymorphisms of MECP2 between SLE subjects and controls. 26782401 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 Biomarker disease BEFREE According to recent studies, methyl-CpG-binding protein 2 (MECP2) has been associated with SLE in various populations. 26156810 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE Mutations of SNPs (rs2075596, rs2239464) of MeCP2 showed increased risk of developing SLE. 23857988 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET These data suggest contributions of both IRAK1 and MECP2 to SLE susceptibility. 22904263 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET Our data suggest that the lupus-associated variant in the MECP2/IRAK1 locus has the potential to affect all 3 epigenetic mechanisms: DNA methylation, microRNA expression, and histone modification. 23428850 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 Biomarker disease BEFREE These data suggest contributions of both IRAK1 and MECP2 to SLE susceptibility. 22904263 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET Mutations of SNPs (rs2075596, rs2239464) of MeCP2 showed increased risk of developing SLE. 23857988 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE Our data suggest that the lupus-associated variant in the MECP2/IRAK1 locus has the potential to affect all 3 epigenetic mechanisms: DNA methylation, microRNA expression, and histone modification. 23428850 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing. 22654485 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 AlteredExpression disease BEFREE MeCP2 protein levels within the TNFSF7 promoter decreased in patients with active lupus. 21865261 2011
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE Although there were allelic (HLA-DRB1 and IRF5) or genetic heterogeneity (FCGR gene family), HLA-DRB1, the FCGR gene family, IRF5, STAT4 and MECP2 showed consistent associations with SLE susceptibility across ethnicities. 19357696 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 AlteredExpression disease BEFREE The average expression levels of DNMT1 and MBD4 mRNA were significantly lower whereas MBD2 and MeCP2 mRNA levels were significantly higher in the SLE group. 19444718 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET Recent insights into the genetic basis of systemic lupus erythematosus. 19440199 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 Biomarker disease BEFREE Our results also suggest that MECP2 association has no influence in the sex bias of SLE, contrary to what has been proposed. 19442287 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease BEFREE We 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)). 19333917 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 Biomarker disease BEFREE We identify and replicate association between SLE and the genomic element containing MECP2 in two independent SLE cohorts from two ethnically divergent populations. 18320046 2008
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 GeneticVariation disease LHGDN We identify and replicate association between SLE and the genomic element containing MECP2 in two independent SLE cohorts from two ethnically divergent populations. 18320046 2008