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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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001-es BibID:	BIBFORM011966
Első szerző:	Soós Lilla
Cím:	A citrullinált fehérje elleni antitestek (ACPA) pathogenetikai, diagnosztikus és prognosztikai jelentősége / Soós L., Lakos G., Kapitány A., Fekete A., Gyetvai Á., Gergely P., jr., Pazár B., Szabó Z., Váncsa A., Poór Gy., Szekanecz Z.
Dátum:	2009
Tárgyszavak:	Orvostudományok Klinikai orvostudományok magyar nyelvű folyóiratközlemény hazai lapban
Megjelenés:	Immunológiai Szemle. - 1 : 1-2 (2009), p. 4-12. -
További szerzők:	Lakos Gabriella (1963-) (laboratóriumi szakorvos, transzfúziológus, immunológus) Kapitány Anikó (1979-) (molekuláris biológus) Fekete Andrea (immunológus) Gyetvai Ágnes Gergely P. Pazár Borbála Szabó Zoltán (1970-) (belgyógyász, reumatológus) Váncsa Andrea (1972-) (orvos) Poór Gyula Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM044035
Első szerző:	Szabó Melinda
Cím:	Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn's disease and ankylosing spondylitis / Szabo Melinda, Safrany Eniko, Pazar Borbala, Melegh Bela I., Kisfali Peter, Poor Gyula, Figler Maria, Szekanecz Zoltan, Czirjak Laszlo, Melegh Bela
Dátum:	2013
ISSN:	0301-4851
Megjegyzések:	Haplotype tagging SNPs of interleukin-23 receptor gene rs1004819, rs7517847, rs7530511, rs2201841, rs1343151 and rs10889677 were determined in 396 patients with rheumatoid arthritis, 190 patients with Crohn's disease, 206 patients with ankylosing spondylitis and 182 controls. Using regression analysis models the rs1004819, rs2201841, and rs10889677 SNPs were found to confer risk for Crohn's disease and ankylosing spondylitis, while rs1343151 had a protective effect in both of these diseases, and the rs2201841 and rs10889677 SNPs showed susceptibility nature for rheumatoid arthritis. Using these SNPs we could study the susceptibility haplotype profiles in these diseases with special attention to the rheumatoid arthritis, first in the literature. Seven different haplotypes could be differentiated. We found that the SNPs exert their susceptibility character in specific haplotype blocks: thus, for rheumatoid arthritis the rs1343151 SNP was risk factor only in a specific haplotype surrounding; this can explain the controversial results published so far about this variant. More importantly, we observed, that while a specific haplotype can confer risk for rheumatoid arthritis, the same haplotype tended to protect against the development of the other two diseases. The data presented here serve evidence for the need of haplotype analysis instead of just single standing SNP analysis when susceptibility to or protection against a certain disease are interpreted.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Interleukin-23 receptor gene Autoimmune disease SNP
Megjelenés:	Molecular Biology Reports. - 40 : 1 (2013), p. 359-363. -
További szerzők:	Sáfrány Enikő Pazár Borbála Melegh Béla I. Kisfali Péter Poór Gyula Figler Mária Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus) Czirják László Melegh Béla
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