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rs1734791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 1.4x increased risk for lupus
(A;T) 2 1.4x increased risk for lupus
(T;T) normal
ReferenceGRCh38 38.1/141
ChromosomeX
Position154065469
GeneMeCP2, MECP2
is asnp
is mentioned by
dbSNPrs1734791
ebirs1734791
HLIrs1734791
Exacrs1734791
Varsomers1734791
Maprs1734791
PheGenIrs1734791
hapmaprs1734791
1000 genomesrs1734791
hgdprs1734791
ensemblrs1734791
gopubmedrs1734791
geneviewrs1734791
scholarrs1734791
googlers1734791
pharmgkbrs1734791
gwascentralrs1734791
openSNPrs1734791
23andMers1734791
23andMe allrs1734791
SNP Nexus

SNPshotrs1734791
SNPdbers1734791
MSV3drs1734791
GWAS Ctlgrs1734791
GMAF0.3851
Max Magnitude2
? (A;A) (A;T) (T;T) 28
rs1734791 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 rs1734791(A) risk allele of 1.39 (CI: 1.24–1.57, p = 7.2×10−8).[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 19717458OA-icon.png] A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.