Geno
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Mag
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Summary
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(A;A)
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normal
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(A;C)
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1.4x increased risk for lupus
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(C;C)
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1.4x increased risk for lupus
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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 18320046]
[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 23233309] An activity-enhancing variant of IRAK1 and an MECP2-IRAK1 haplotype associating with increased susceptibility to rheumatoid arthritis