A proposed HLA-B*27 screening method for ankylosing spondylitis detection based on tag-single nucleotide...

Area of Science:

• Genetics
• Immunology
• Rheumatology

Background:

• Ankylosing spondylitis (AS) is a spinal inflammatory arthritis.
• HLA-B*27 allele is strongly associated with AS pathogenesis.
• ERAP1 gene also plays a role in AS genetic susceptibility.

Purpose of the Study:

• To evaluate HLA-B tag-SNPs and ERAP1 variations for AS screening in Mexicans.
• To compare their performance against standard HLA-B*27 genotyping.

Main Methods:

• Genotyping of five SNPs (rs4349859, rs13202464, rs116488202 for HLA-B*27; rs30187, rs27044 for ERAP1) in Mexican AS patients and controls.
• Utilized TaqMan genotype assay.
• Performed sensitivity and specificity analysis.

Main Results:

• Significant association found between AS and heterozygote genotypes/minor alleles of HLA-B*27 tag-SNPs and their haplotypes.
• No significant associations observed for ERAP1 polymorphisms (p > 0.05).
• rs4349859 (sensitivity 0.96, specificity 1.00) and rs116488202 (sensitivity 0.96, specificity 0.94) showed high performance in detecting HLA-B*27.

Conclusions:

• HLA-B*27 tag-SNPs are linked to AS susceptibility.
• The rs4349859 SNP demonstrates outstanding performance for detecting HLA-B*27.
• rs4349859 can be proposed as a screening marker for HLA-B*27 identification in the Mexican population.