Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population: the rs27044 variant is associated with HLA-B2705 subtype in Hungarian patients with ankylosing spondylitis

• Published in: Journal of rheumatology Vol. 37; no. 2; p. 379
• Main Authors: Pazár, Borbála, Sáfrány, Eniko, Gergely, Péter, Szántó, Sándor, Szekanecz, Zoltán, Poór, Gyula
• Format: Journal Article
• Language: English
• Published: Canada 01.02.2010
• Subjects: Adult; Alleles; Aminopeptidases - genetics; Case-Control Studies; European Continental Ancestry Group - genetics; Female; Gene Frequency - genetics; Genetic Association Studies; Genetic Predisposition to Disease - genetics; Humans; Hungary; Male; Middle Aged; Minor Histocompatibility Antigens; Polymorphism, Single Nucleotide - genetics; Spondylitis, Ankylosing - genetics
• ISSN: 0315-162X
• DOI: 10.3899/jrheum.090806

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. 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. 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 in 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 was the predominant subtype in 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. We confirmed reported associations of ARTS1 gene polymorphisms with AS in a Hungarian cohort study. We found HLA-B*2705 as the predominant subtype in Hungarian AS patients in accord with other studies on Caucasian populations. Our results suggest that the ARTS1 gene variants together with HLA-B27 strongly contribute to disease susceptibility in patients with AS.