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001-es BibID:	BIBFORM077074
Első szerző:	Bajor Judit
Cím:	HLA-DQ2 homozygosis increases tTGA levels at diagnosis but does not influence the clinical phenotype of celiac disease : a multicenter study / Bajor Judit, Szakacs Zsolt, Juhasz Mark, Papp Maria, Kocsis Dorottya, Szegedi Eva, Foldi Ildiko, Farkas Nelli, Hegyi Peter, Vincze Aron
Dátum:	2019
ISSN:	1744-3121 1744-313X
Megjegyzések:	Background and purpose: Magnitude of gluten-specific T-cell responses in celiac disease might be dependent on HLA-DQ2 gene dose. We aimed to investigate the effects of HLA-DQB102 allele dose on clinical outcomes. Methods: We reviewed the charts of all celiac patients attending to three Hungarian university clinics after 1997 and included those patients, who 1) were diagnosed with celiac disease, 2) underwent high resolution HLA-typing, and 3) were ?18 years at the time of data collection. HLA typing was performed to determine DQB102 allele dose. Patients were divided into risk groups by DQB102 allele dose, as follows: high-, intermediate-, and low-risk groups corresponded to a double, single, and zero doses, respectively. We used ANOVA and Person's chi-squared test to explore association between HLA-risk and clinical variables. Results: 727 celiac patients attended the clinics but only 105 (14.4%) patients were eligible for inclusion. High, intermediate, and low HLA-risk patients comprised 35.3%, 52.3%, and 12.3% of the study population, respectively. Double dose of HLADQB102 was more frequent in patient with high tTGA level (> 10 times the upper limit of normal) (p=0.045). Gene dose was not associated with younger age at diagnosis (p=0.549), gender (p=0.739), more severe diagnostic histology (p=0.318), more frequent classical presentation (p=0.846), anemia (p=0.611), metabolic bone disease (p=0.374), dermatitis herpetiformis (p=0.381), and autoimmune diseases (p=0.837). Conclusions: Our study shows a significant gene dose effect in terms of tTGA level at diagnosis, but no significant association between HLA-DQB1*02 allele dose and the clinical outcomes in celiac disease.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	International Journal of Immunogenetics. - 46 : 2 (2019), p. 74-81. -
További szerzők:	Szakács Zsolt Juhász Márk Félix Papp Mária (1975-) (belgyógyász, gasztroenterológus) Kocsis Dorottya Szegedi Éva Földi Ildikó (1981-) (orvos) Farkas Nelli Hegyi Péter Jenő (belgyógyász) Vincze Áron
Pályázati támogatás:	ÚNKP-17-3-II ÚNKP
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat DOI
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001-es BibID:	BIBFORM020155
Első szerző:	Calpe, Silvia
Cím:	Identification and characterization of two related murine genes, Eat2a and Eat2b, encoding single SH2-domain adapters / Silvia Calpe, Erika Erdős, Gongxian Liao, Ninghai Wang, Svend Rietdijk, Maria Simarro, Beata Scholtz, Jill Mooney, Chang Hoon Lee, Min Sun Shin, Éva Rajnavölgyi, John Schatzle, Herbert C. Morse III, Cox Terhorst, Arpad Lanyi
Dátum:	2006
ISSN:	0093-7711
Megjegyzések:	Human EAT-2 (SH2D1B) and SLAM-associated protein (SAP) (SH2D1A) are single SH2-domain adapters, which bind to specific tyrosine residues in the cytoplasmic tail of six signaling lymphocytic activation molecule (SLAM) (SLAMF1)-related receptors. Here we report that, unlike in humans, the mouse and rat Eat2 genes are duplicated with an identical genomic organization. The coding regions of the mouse Eat2a and Eat2b genes share 91% identity at the nucleotide level and 84% at the protein level; similarly, segments of introns are highly conserved. Whereas expression of mouse Eat2a mRNA was detected in multiple tissues, Eat2b was only detectable in mouse natural killer cells, CD8(+) stop T cells, and ovaries, suggesting a very restricted tissue expression of the latter. Both the EAT-2A and EAT-2B coimmunoprecipitated with mouse SLAM in transfected cells and augmented tyrosine phosphorylation of the cytoplasmic tail of SLAM. Both EAT-2A and EAT-2B bind to the Src-like kinases Fyn, Hck, Lyn, Lck, and Fgr, as determined by a yeast two-hybrid assay. However, unlike SAP, the EAT-2 proteins bind to their kinase domains and not to the SH3 domain of these kinases. Taken together, the data suggest that both EAT-2A and EAT-2B are adapters that recruit Src kinases to SLAM family receptors using a mechanism that is distinct from that of SAP.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban adapter proteins EAT-2 SLAM Src kinases
Megjelenés:	Immunogenetics 58 : 1 (2006), p. 15-25. -
További szerzők:	Erdős Erika Liao, Gongxian Wang, Ninghai Rietdijk, Svend Simarro, Maria Scholtz Beáta (1967-) (biokémikus, molekuláris biológus) Mooney, Jill Lee, Chang Hoon Shin, Min Sun Rajnavölgyi Éva (1950-) (immunológus) Schatzle, John Morse, Herbert C. III Terhorst, Cox Lányi Árpád (1962-) (biológus, immunológus)
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001-es BibID:	BIBFORM009656
Első szerző:	Koskinen, Lotta L. E.
Cím:	Cost-effective HLA typing with tagging SNPs predicts celiac disease risk haplotypes in the Finnish, Hungarian, and Italian populations / Lotta Koskinen, Jihane Romanos, Katri Kaukinen, Kirsi Mustalahti, Korponay-Szabo Ilma, Donatella Barisani, Maria Teresa Bardella, Fabiana Ziberna, Serena Vatta, Széles György, Pocsai Zsuzsa, Kati Karell, Katri Haimila, Ádány Róza, Tarcisio Not, Alessandro Ventura, Markku Mäki, Jukka Partanen, Cisca Wijmenga, Päivi Saavalainen
Dátum:	2009
ISSN:	0093-7711 (Print)
Tárgyszavak:	Orvostudományok Egészségtudományok idegen nyelvű folyóiratközlemény külföldi lapban HLA Human leukocyte antigen Celiac disease Tagging SNP
Megjelenés:	Immunogenetics. - 61 : 4 (2009), p. 247-256. -
További szerzők:	Romanos, Jihane Kaukinen, Katri Mustalahti, Kirsi Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Barisani, Donatella Bardella, Maria Teresa Ziberna, Fabiana Vatta, Serena Széles György (1969-) (epidemiológus) Pocsai Zsuzsanna (1970-) (népegészségügyi szakember) Karell, Kati Haimila, Katri Ádány Róza (1952-) (megelőző orvostan és népegészségtan szakorvos) Not, Tarcisio Ventura, Alessandro Mäki, Markku Partanen, Jukka Wijmenga, Cisca Saavalainen, Päivi
Internet cím:	DOI elektronikus változat
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