rs17435
This is a regulatory region variant variant in the MECP2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
snoring measurement
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Association of an activity‐enhancing variant of IRAK1 and an MECP2–IRAK1 haplotype with increased susceptibility to rheumatoid arthritisAssociationN=2,322Tae‐Un Han et al.(2013)· Arthritis & Rheumatism
This case-control study of 2,322 Korean participants (1,316 RA cases, 1,006 controls) identified multiple SNPs in an IRAK1-MECP2 locus on Xq28 associated with rheumatoid arthritis susceptibility. The most significant association was with rs1734792 (P=0.00089, OR=1.33), while two nonsynonymous IRAK1 SNPs rs1059702 (P=0.0034, OR=1.31) and rs1059703 (P=0.0042, OR=1.31) showed functional effects with a major haplotype conferring 1.7-fold increased RA risk and enhanced IRAK1-mediated NF-κB activity.
▶Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosusAssociationN=4,230Ryan Webb et al.(2009)· Arthritis & Rheumatism
This study confirmed and extended the association between MECP2 gene variants and systemic lupus erythematosus (SLE) in European-derived populations (OR=1.35, p=6.65×10⁻¹¹). The three SNPs with strongest association were rs1734787, rs1734792, and rs1734791 (Fisher's combined p-values ~10⁻¹⁰ to 10⁻¹¹). In lupus patients carrying the disease-risk MECP2 haplotype, 128 genes were differentially expressed in B cells, including 104 upregulated genes enriched for interferon-regulated genes, and 24 downregulated genes.
About MECP2
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
View all MECP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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