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001-es BibID:BIBFORM007079
Első szerző:Rass Péter
Cím:Vitamin D receptor gene polymorphism in rheumatoid arthritis and associated osteoporosis / Rass, P., Pakozdi, A., Lakatos, P., Zilahi, E., Sipka, S., Szegedi, G., Szekanecz, Z.
Dátum:2006
ISSN:0172-8172
Megjegyzések:Rheumatoid arthritis (RA) is commonly associated with decreased bone mineral density (BMD) due to numerous factors. BsmI polymorphism of the vitamin D receptor (VDR) gene has been implicated in the pathogenesis of osteoporosis. Vitamin D has several immunomodulatory effects and thus may play a role in the course of arthritis. However, little data is available on the possible relationship between RA and VDR gene polymorphisms. In this study, the frequency of BsmI polymorphism genotypes were compared with that found in other countries. In this study, 64 RA patients and 40 healthy controls were tested for VDR gene BsmI polymorphism genotypes. Frequencies of B and b alleles were associated with markers of bone metabolism and RA. Among control subjects, the frequency of the BB genotype is relatively high (27.5%). In RA with secondary osteopenia/osteoporosis the BB genotype was more rare, the bb was more common than in control subjects. Markers of bone metabolism were associated with the B allele. RA patients carrying the B allele had lower BMD and increased bone loss over 1 year. The B allele was also correlated with increased osteoclast and osteoblast function, as determined by the assessment of biochemical markers of bone metabolism. Rheumatoid factor titer, which is an independent marker for disease progression in RA, was higher in bb patients. Our data suggest, that the imbalance in B and b allele expression may be involved in the pathogenesis of RA-associated osteoporosis. The possible involvement of vitamin D and VDR gene polymorphisms in the development and progression of RA needs further elucidation.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Adult
Aged
Alleles
Arthritis, Rheumatoid
Bone Density
Deoxyribonucleases, Type II Site-Specific
Female
Genetic Markers
Genetic Predisposition to Disease
Genotype
Humans
Hungary
Male
Middle Aged
Osteoporosis
Polymorphism, Genetic
Postmenopause
Receptors, Calcitriol
Megjelenés:Rheumatology International. - 26 : 11 (2006), p. 964-971. -
További szerzők:Pákozdi Angéla Lakatos Péter Zilahi Erika (1964-) (molekuláris biológus) Sipka Sándor (1945-) (laboratóriumi szakorvos) Szegedi Gyula (1936-2013) (belgyógyász, immunológus) Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus)
Internet cím:elektronikus változat
DOI
elektronikus változat
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2.

001-es BibID:BIBFORM007141
Első szerző:Szűcs Gabriella (belgyógyász, allergológus és klinikai immunológus, reumatológus)
Cím:Systemic sclerosis-rheumatoid arthritis overlap syndrome : a unique combination of features suggests a distinct genetic, serological and clinical entity / Szucs, G., Szekanecz, Z., Zilahi, E., Kapitany, A., Barath, S., Szamosi, S., Vegvari, A., Szabo, Z., Szanto, S., Czirjak, L., Kiss, C. Gyorgy
Dátum:2007
ISSN:1462-0324 (Print)
Megjegyzések:To determine the genetic, clinical and serological characteristics of systemic sclerosis (SSc)-rheumatoid arthritis (RA) overlap syndrome. METHODS: Clinical manifestations and immunolaboratory features of 22 SSc-RA patients were assessed. The HLA-DR genotype of the 22 SSc-RA patients determined by SSP-PCR was compared with that of 38 SSc patients, 100 RA patients and 50 healthy controls. RESULTS: All overlap patients fulfilled the American College of Rheumatology (ACR) criteria for SSc and RA. Five of the 22 patients (23%) had diffuse cutaneous SSc (dcSSc) and 17 patients (77%) had limited cutaneous SSc (lcSSc). Antinuclear antibody, anti-Scl70, IgM rheumatoid factor and anti-CCP antibody positivity were detected in 22 (100%), 5 (23%), 16 (73%) and 18 patients (82%), respectively. Seventeen patients (77%) had pulmonary fibrosis, 12 (55%) had oesophageal dismotility, 11 (50%) had cardiac and five (23%) had renal involvement. Hand joint destruction was observed in 18 patients (82%). Significantly increased frequencies of HLA-DR3 (36% vs 5%), HLA-DR7 (9% vs 4%), HLA-DR11 (36% vs 7%) and HLA-DRw53 (23% vs 5%) were observed in SSc-RA compared with RA patients (P < 0.05). Allele frequencies of the 'shared epitope' (HLA-DR1 and -DR4) were significantly increased in SSc-RA (32% and 27%, respectively) and RA patients (46% and 31%, respectively) in comparison with SSc patients (10.5% and 16%, respectively) or healthy controls (16% and 14%, respectively) (P < 0.05). CONCLUSIONS: To date this is the largest SSc-RA overlap cohort. Genetics, clinical and immunolaboratory features suggest a mixed phenotype. Our data suggest that SSc-RA overlap syndrome may be a distinct genetic, immunological and clinical entity.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Adult
Aged
Arthritis, Rheumatoid
Autoantibodies
Esophageal Motility Disorders
Female
Gene Frequency
Genotype
Humans
Male
Middle Aged
Polymerase Chain Reaction
Pulmonary Fibrosis
Scleroderma, Systemic
Syndrome
Megjelenés:Rheumatology. - 46 : 6 (2007), p. 989-993. -
További szerzők:Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus) Zilahi Erika (1964-) (molekuláris biológus) Kapitány Anikó (1979-) (molekuláris biológus) Baráth Sándor (1977-) (biológus) Szamosi Szilvia (1975-) (belgyógyász, reumatológus) Végvári Anikó (belgyógyász, III. sz. Belgyógyászati Klinika) Szabó Zoltán (1970-) (belgyógyász, reumatológus) Szántó Sándor (1968-) (belgyógyász, reumatológus) Czirják László Kiss Csaba György
Internet cím:elektronikus változat
DOI
elektronikus változat
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3.

001-es BibID:BIBFORM055702
Első szerző:Zilahi Erika (molekuláris biológus)
Cím:Lack of association of vitamin D receptor gene polymorphisms/haplotypes in Sjögren's syndrome / Erika Zilahi, Ji-Qing Chen, Gábor Papp, Antónia Szántó, Margit Zeher
Dátum:2015
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Clinical Rheumatology 34 : 2 (2015), p. 247-253. -
További szerzők:Chen, Ji-Qing Papp Gábor (1984-) (belgyógyász) Szántó Antónia (1977-) (belgyógyász, allergológus és klinikai immunológus) Zeher Margit (1957-2018) (belgyógyász, allergológus és klinikai immunológus, reumatológus)
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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4.

001-es BibID:BIBFORM040672
035-os BibID:PMID:16331753
Első szerző:Zsilák Szilvia
Cím:HLA-DR genotypes in familial rheumatoid arthritis : increased frequency of protective and neutral alleles in a multicase family / Szilvia Zsilák, János Gál, László Hodinka, Katalin Rajczy, Attila Balog, Sándor Sipka, Sándor Baráth, Anikó Kapitány, Erika Zilahi, Zoltán Szekanecz
Dátum:2005
Megjegyzések:We describe a unique family where each of the 5 siblings in the second generation has rheumatoid arthritis (RA). Two other members of the family have RA and systemic lupus erythematosus (SLE), respectively. No members of previous generations in the family had documented inflammatory arthritis. Due to the suspected genetic predisposition, HLA-DR genotypes were determined in the affected siblings and their parents, children, and grandchildren. We investigated the possible role of various HLA-DR alleles in the evolution of RA in this multicase family. METHODS: HLA-DRB1* alleles were determined by polymerase chain reaction using the sequence-specific primer-Olerup method. RESULTS: The most common alleles in the 6 persons with RA were HLA-DRB1*07 and DRB1*15, which are known to be protective and neutral in RA. No patient or family member carried any HLA-DR4 alleles. CONCLUSION: HLA-DRB1*07 and DRB1*15 alleles are thought to be protective or neutral in RA. However, the majority of RA patients in the family and nearly half of all family members carried these alleles, suggesting a role of these genotypes in susceptibility to RA. No RA patient in this family carried HLA-DR4 alleles. Thus, in our rare family with 6 RA cases, an unexpected genetic background may be involved in the increased susceptibility to inflammatory arthritis.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Adult
Arthritis, Rheumatoid
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
HLA-DR Antigens
Humans
Lupus Erythematosus, Systemic
Male
egyetemen (Magyarországon) készült közlemény
Megjelenés:The Journal of Rheumatology. - 32 : 12 (2005), p. 2299-2302. -
További szerzők:Gál János Hodinka László Rajczy Katalin Balog Attila Sipka Sándor (1945-) (laboratóriumi szakorvos) Baráth Sándor (1977-) (biológus) Kapitány Anikó (1979-) (molekuláris biológus) Zilahi Erika (1964-) (molekuláris biológus) Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus)
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