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rs2732552

From SNPedia

Orientationminus
Stabilizedminus
Make rs2732552(A;A)
Make rs2732552(A;G)
Make rs2732552(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position35063045
is asnp
is mentioned by
dbSNPrs2732552
ebirs2732552
HLIrs2732552
Exacrs2732552
Varsomers2732552
Maprs2732552
PheGenIrs2732552
hapmaprs2732552
1000 genomesrs2732552
hgdprs2732552
ensemblrs2732552
gopubmedrs2732552
geneviewrs2732552
scholarrs2732552
googlers2732552
pharmgkbrs2732552
gwascentralrs2732552
openSNPrs2732552
23andMers2732552
23andMe allrs2732552
SNP Nexus

SNPshotrs2732552
SNPdbers2732552
MSV3drs2732552
GWAS Ctlgrs2732552
GMAF0.4449
Max Magnitude
? (A;A) (A;G) (G;G) 28
Rs2732552, a SNP located at chr 11p13 is one of several variants associated with systemic lupus erythematosus (SLE). This snp has an intergenic location between the genes CD44 and PDHX.

The association of rs2732552 with SLE was first suggested in an association study of Caucasian patients. In this study of 431 cases and 2155 controls, the p-value of rs2732552 approached but did not meet the genome-wide significance threshold of 5 x 10^-8. [PMID 19165918OA-icon.png].

A follow up study found significant association of rs2732552 with SLE in cohorts of multiple ethnicities. In the Caucasian cohort of 4248 cases and 3818 controls, a p-value of 9.03 x 10^-8 with odds ratio of 0.83 was reported. In the African-American cohort of 1569 cases and 1893 controls, a p-value of 5 x 10^3 with odds ratio of 0.81 was reported. In the Asian cohort of 1328 cases and 1348 controls, a p-value of 4.3 x 10^-4 and odds ratio of 0.8 was reported. A meta analysis using all ethnicities detected a significant p-value for association of 2.36 x 10^13. The caucasian minor allele (T) is reported to confer a 0.8x susceptibility for SLE. The authors hypothesize that rs2732552 resides in a genomic region regulating the expression of CD44. [PMID 21194677OA-icon.png]

Two previous studies have shown that immune cells from SLE patients express different levels of certain CD44 isoforms. T-cells from SLE patients were shown to be highly overexpressing CD44. [PMID 17237445] [PMID 20213807OA-icon.png]