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rs1734792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) normal
(A;C) 1.4x increased risk for lupus
(C;C) 1.4x increased risk for lupus
ReferenceGRCh38 38.1/141
ChromosomeX
Position154075609
GeneMECP2
is asnp
is mentioned by
dbSNPrs1734792
dbSNP (classic)rs1734792
ClinGenrs1734792
ebirs1734792
HLIrs1734792
Exacrs1734792
Gnomadrs1734792
Varsomers1734792
LitVarrs1734792
Maprs1734792
PheGenIrs1734792
Biobankrs1734792
1000 genomesrs1734792
hgdprs1734792
ensemblrs1734792
geneviewrs1734792
scholarrs1734792
googlers1734792
pharmgkbrs1734792
gwascentralrs1734792
openSNPrs1734792
23andMers1734792
SNPshotrs1734792
SNPdbers1734792
MSV3drs1734792
GWAS Ctlgrs1734792
GMAF0.3718
Max Magnitude0
? (A;A) (A;C) (C;C) 28


rs1734792 is one of several SNPs in the methyl CpG binding protein 2 (MECP2) that have been associated with risk for systemic lupus erythromatosis (SLE). The MECP2 gene is located on the X chromosome, which may be instructive since lupus is a predominantly female disease.

An initial survey of 600 Korean patients, followed by 1,000 Caucasian patients, ultimately led to a meta-analysis indicating an odds ratio for the rs1734792(A) risk allele of 1.42 (CI: 1.24-1.58, p = 3.3E-08).[PMID 18320046OA-icon.png]

[PMID 19333917OA-icon.png] Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.


[PMID 23233309] An activity-enhancing variant of IRAK1 and an MECP2-IRAK1 haplotype associating with increased susceptibility to rheumatoid arthritis