Have questions? Visit https://www.reddit.com/r/SNPedia

rs17435

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) normal
(A;T) 2 1.4x increased risk for lupus
(T;T) 2 1.4x increased risk for lupus
ReferenceGRCh38 38.1/141
ChromosomeX
Position154046529
GeneMECP2
is asnp
is mentioned by
dbSNPrs17435
ebirs17435
HLIrs17435
Exacrs17435
Varsomers17435
Maprs17435
PheGenIrs17435
hapmaprs17435
1000 genomesrs17435
hgdprs17435
ensemblrs17435
gopubmedrs17435
geneviewrs17435
scholarrs17435
googlers17435
pharmgkbrs17435
gwascentralrs17435
openSNPrs17435
23andMers17435
23andMe allrs17435
SNP Nexus

SNPshotrs17435
SNPdbers17435
MSV3drs17435
GWAS Ctlgrs17435
GMAF0.4825
Max Magnitude2
? (A;A) (A;T) (T;T) 28
rs17435 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 rs17435(T) risk allele of 1.39 (CI: 1.24–1.56, p = 1.2×10e-08).[PMID 18320046OA-icon.png]


[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors

OMIM300809
Desc
Variant
Relatedalso
[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 19442287OA-icon.png] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.

[PMID 19717458OA-icon.png] A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.


[PMID 23444193OA-icon.png] New insight on the Xq28 association with systemic sclerosis


[PMID 24709033] Analysis of two autoimmunity genes, IRAK1 and MECP2, in giant cell arteritis