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http://purl.uniprot.org/citations/34643924http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/34643924http://www.w3.org/2000/01/rdf-schema#comment"

Background

Ankylosing spondylitis (AS) is a type of inflammatory arthritis that affects primarily the spine. There is a strong association of the HLA-B*27 allele with AS pathogenesis, but recent studies have demonstrated the participation of ERAP1 gene in the genetic susceptibility. The aim of this study was to determine whether HLA-B tag-single nucleotide polymorphisms (SNPs) and ERAP1-related genetic variations associated with AS have equal or similarly performance in patients´ screening compared to HLA-B*27 standard genotyping in Mexican population.

Methods and results

Genomic DNA from patients with AS and population-based controls from Mexico City was analyzed for five single nucleotide polymorphisms (SNPs): rs4349859, rs13202464, rs116488202, tagging HLA-B*27; and rs30187 and rs27044 in ERAP1 gene. TaqMan genotype assay method was used for SNPs genotyping. We found a significant association between AS and the heterozygote genotypes and minor alleles of the HLA-B*27 tag-SNPs, as well as for their haplotypes. With respect to ERAP1 polymorphisms, no significant associations were observed (p > 0.05). The sensitivity and specificity analysis showed values of 0.96 and 1.00 for the rs4349859 SNP, and 0.96 and 0.94 for the rs116488202 SNP, respectively, in detecting HLA-B*27 compared to the B27 test as the gold standard.

Conclusions

HLA-B*27 tag-SNPs are associated with AS susceptibility; furthermore, the rs4349859 SNP by its own have an outstanding performance in detecting HLA-B*27 and therefore can be proposed as screening marker in the identification of HLA-B*27 in our population."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.org/dc/terms/identifier"doi:10.1007/s11033-021-06801-3"xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Hidalgo-Bravo A."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Sanchez-Sanchez R."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Espinosa-Morales R."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Valdes-Flores M."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Fernandez-Torres J."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Martinez-Nava G.A."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Martinez-Flores K."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Zamudio-Cuevas Y."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Mijares-Diaz F."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Juarez-Barreto S.M."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Lozada-Perez C."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/author"Terrazas-Ontiveros N.A."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/name"Mol Biol Rep"xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/pages"7819-7829"xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/title"A proposed HLA-B*27 screening method for ankylosing spondylitis detection based on tag-single nucleotide polymorphisms: a preliminary study."xsd:string
http://purl.uniprot.org/citations/34643924http://purl.uniprot.org/core/volume"48"xsd:string
http://purl.uniprot.org/citations/34643924http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/34643924
http://purl.uniprot.org/citations/34643924http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/34643924
http://purl.uniprot.org/uniprot/#_A0A0A7C552-mappedCitation-34643924http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34643924
http://purl.uniprot.org/uniprot/#_A0A0E3DC98-mappedCitation-34643924http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34643924
http://purl.uniprot.org/uniprot/#_A0A0E3DCA0-mappedCitation-34643924http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34643924
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