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 19165918
].
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 21194677]
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 20213807]
].
