| Geno
|
Mag
|
Summary
|
| (A;A)
|
|
normal
|
| (A;T)
|
2
|
1.4x increased risk for lupus
|
| (T;T)
|
2
|
1.4x increased risk for lupus
|
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 18320046
]
[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors
[PMID 19333917] 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 19442287] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.
[PMID 19717458] A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.
[PMID 23444193] New insight on the Xq28 association with systemic sclerosis
[PMID 24709033] Analysis of two autoimmunity genes, IRAK1 and MECP2, in giant cell arteritis
]
