Do major histocompatibility complex tag single nucleotide polymorphisms accurately identify HLA-B27 in the Turkish population?

Abstract

To evaluate the performance of human leukocyte antigen (HLA)-B27 tag single nucleotide polymorphisms (SNPs) by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). We genotyped three SNPs (rs116488202, rs13202464 and rs4349859). The primers were designed using Primer3 algorithm via primer-BLAST interface. PCR products were digested by using NlaIII, BmrI and TaqαI enzymes. Quality control was performed by DNA sequence analysis. In total, 207 patients with ankylosing spondylitis and 32 healthy controls were included in the study. The sensitivity and specificity of SNPs rs116488202 and rs4349859 in identifying HLA-B27 were identical and adequate at 0.946 and 1.000, respectively. On the other hand, the sensitivity and specificity for rs13202464 was 0.878 and 0.934, respectively. The presence of another SNP (rs141774149) in close proximity to rs116488202 complicated the analysis for RFLP and required that we sequence all the T allele carrying samples. The SNPs rs116488202 and rs4349859 may have a place in the identification of HLA-B27 in the Turkish population; however, methods other than PCR-RFLP should be considered.