The tag SNP for HLA-DRB1*1501, rs3135388, is significantly associated with multiple sclerosis susceptibility: cost-effective high-throughput detection by real-time PCR.

ABSTRACT

BACKGROUND: Recently a high-resolution HLA and SNP map was defined and the analysis provided informative tag SNPs that capture much of the common variation in the MHC region. This concept enables detection of smaller number of SNPs, making it "surrogate" markers for haplotype associated with certain disease. The SNP rs3135388 was proposed as a tagging SNP for DRB1*1501/DQB10602 alleles, associated with MS. The aim of the study was to investigate the HLA rs3135388 genotypes in association with MS in patients from Serbia. METHODS: Two hundred sixty nine consecutive patients from Serbia with relapse-remitting and secondary progressive MS were recruited for the study. Genomic DNA was isolated from peripheral blood cells. We designed the TaqMan assay for high-throughput genotyping of HLA rs3135388 on 7500 Real-Time PCR System. RESULTS: We found significantly higher frequency of rs3135388 A allele carriers in MS patients compared to controls (p<0.001, chi(2)). In our population the carriers of one A allele had adjusted OR 2.09 (95% CI 1.41-3.09, p<0.001) for MS susceptibility. CONCLUSION: We assessed significant association of rs3135388 A allele carriership with MS in patients from Serbia. This HLA-DRB1*1501 "surrogate" marker is useful in association studies in MS.