Association of ARTS1 Gene Polymorphisms with Ankylosing Spondylitis in the Hungarian Population: The rs27044 Variant Is Associated with HLA-B*2705 Subtype in Hungarian Patients with Ankylosing Spondylitis

作者：Pazar Borbala; Safrany Eniko; Gergely Peter; Szanto Sandor; Szekanecz Zoltan^*; Poor Gyula

来源：Journal of Rheumatology, 2010, 37(2): 379-384.

DOI：10.3899/jrheum.090806

• ARTS1
• HLA-B27
• ANKYLOSING SPONDYLITIS
• POLYMORPHISM

Objective. Associations have been found between ankylosing spondylitis (AS) and polymorphisms in the aminopeptidase regulator of TNFR1 shedding (ARTS1) gene. We studied the association of 5 polymorphisms within the ARTS1 gene with AS in Hungarian patients. We also investigated the prevalence of HLA-B27 subtypes in the Hungarian Population.
Methods. A case-control Study including 297 patients with AS and 200 sex and ethnically matched healthy controls was performed. Patients and controls were genotyped for rs27044, rs17482078, rs10050860. rs30187, and rs2287987 single-nucleotide polymorphisms using real-time polymerase chain reaction (PCR) allelic discrimination. HLA-B27 subtypes were determined with PCR sequence-specific primer (PCR-SSP) technique.
Results. We observed a significant increase in the minor allele frequency of rs27044 (p = 0.001) in the AS group compared to controls. The minor allele frequencies of rs10050860 (p = 0.006) and rs2287987 (p = 0.002) showed a significant decrease ill AS patients compared to controls. Haplotype analysis revealed association of 2 ARTS1 haplotypes with AS in the Hungarian population. We found that HLA-B*2705 wits the predominant Subtype ill Hungarians with AS. Carriage of the G allele of rs27044 was significantly associated with the HLA-B*2705 Subtype (p = 0.009) in AS patients.

• 出版日期2010-2
• 单位河北医科大学