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001-es BibID:	BIBFORM015947
Első szerző:	Pazár Borbála
Cím:	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 / Borbála Pazár, Enikő Sáfrány, P. Gergely, Sándor Szántó, Zoltán Szekanecz, Gyula Poór
Dátum:	2010
ISSN:	0315-162X (Print)
Megjegyzések:	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 in AS patients compared to controls. Haplotype analysis revealed association of 2 ARTS1 haplotypes with AS in the Hungarian population. We found that HLA-B2705 was the predominant subtype in Hungarians with AS. Carriage of the G allele of rs27044 was significantly associated with the HLA-B2705 subtype (p = 0.009) in AS patients. CONCLUSION: 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.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban 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 Polymorphism, Single Nucleotide/genetics Spondylitis, Ankylosing/genetics
Megjelenés:	The Journal of Rheumatology. - 37 : 2 (2010), p. 379-384. -
További szerzők:	Sáfrány Enikő Gergely Péter (Budapest) Szántó Sándor (1968-) (belgyógyász, reumatológus) Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus) Poór Gyula
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