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001-es BibID:	BIBFORM007058
Első szerző:	Faragó Bernadett
Cím:	Protein tyrosine phosphatase gene C1858T allele confers risk for rheumatoid arthritis in Hungarian subjects / Farago, B., Talian, G. C., Komlosi, K., Nagy, G., Berki, T., Gyetvai, A., Szekanecz, Z., Nyarady, Z., Kiss, C. G., Nemeth, P., Czirjak, L., Melegh, B.
Dátum:	2009
ISSN:	1437-160X
Megjegyzések:	The C1858T allele of the PTPN22 gene has been reported to confer risk for RA; but in some reports, the effect was restricted to RF- and/or anti-CCP-seropositive patients. Hungarian RA patients and matched controls were genotyped. The 1858T allele showed an increased prevalence in RA patients compared to controls. The 1858T allele represents a risk factor in the whole RA population (P = 0.001); an association was found both in RF-seropositive (P = 0.001) and anti-CCP-seropositive patients (P = 0.001), and in subjects with the combination of these factors (P = 0.002). In TT homozygotes, the estimated susceptibility to RA was more than double (OR = 5.04) of that seen in TC heterozygotes (OR = 1.89); the same gene dosage effect was observed in all seropositive RA subgroups. Our data show that the Hungarian RA patients belong to the populations in which the 1858T allele represents a susceptibility factor both in the RF- and/or anti-CCP-seropositive subjects, and the association exhibit a gene dosage dependency.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Rheumatology International. - 29 : 7 (2009), p. 793-796. -
További szerzők:	Tálián Gábor Komlósi Katalin Nagy Gergely György (1976-) (orvos) Berki Tímea Gyetvai Ágnes Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus) Nyárády Zoltán Kiss Csaba György Németh Péter Czirják László Melegh Béla
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001-es BibID:	BIBFORM007057
Első szerző:	Faragó Bernadett
Cím:	Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis / Farago, B., Magyari, L., Safrany, E., Csongei, V., Jaromi, L., Horvatovich, K., Sipeky, C., Maasz, A., Radics, J., Gyetvai, A., Szekanecz, Z., Czirjak, L., Melegh, B.
Dátum:	2008
ISSN:	1468-2060 (Electronic)
Megjegyzések:	Recently, an association was found between Crohn's disease and the interleukin-23 receptor (IL-23R) gene. Since the IL-23/IL-17 pathway is known to associate with other autoimmune diseases, including rheumatoid arthritis (RA) and systemic sclerosis (SSc), we hypothesised that IL-23R could be a shared susceptibility gene. METHODS: Groups of patients with rheumatoid arthritis (n = 412), systemic sclerosis (n = 224), Crohn's disease (n = 190) and healthy controls (n = 220) were genotyped for rs10889677 (exon-3'UTR C2370A), rs2201841, and rs1884444 variants; the first two have been shown to confer risk for Crohn's disease. RESULTS: We observed an increased prevalence of the homozygous rs10889677 AA and homozygous rs2201841 CC genotypes both in the Crohn's disease and in the RA groups as compared to the controls (12.1%, 11.9% vs 5.91%, p<0.05; and 13.2%, 13.1% vs 5.91%, p<0.05), but not in the SSc patients. Logistic regression analysis revealed that bearing these alleles represent risk for the development of rheumatoid arthritis (chi(2) = 5.58, p = 0.018, OR = 2.15, 95% CI 1.14-4.06 for rs10889677; and chi(2) = 7.45, p = 0.006, OR = 2.40, 95% CI 1.28-4.51 for rs2201841). The rs1884444 allele, which has been previously reported as neutral for development of Crohn's disease, was also found neutral for all studied groups in the present study. CONCLUSIONS: The data reported here provide direct evidence that some allelic variants or haplogroups of IL-23R represent independent risk factors for rheumatoid arthritis as well as Crohn's disease, but not for scleroderma.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Arthritis, Rheumatoid Autoantibodies Crohn Disease Female Genetic Predisposition to Disease Genotype Humans Male Middle Aged Odds Ratio Receptors, Interleukin Scleroderma, Systemic
Megjelenés:	Annals of the Rheumatic Diseases. - 67 : 2 (2008), p. 248-250. -
További szerzők:	Magyari Lili Sáfrány Enikő Csöngei Veronika Járomi Luca Horvatovich Katalin Sipeky Csilla Maász Anita Radics J. Gyetvai Ágnes Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus) Czirják László Melegh Béla
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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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