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001-es BibID:	BIBFORM016242
Első szerző:	Dubois, Patrick C. A.
Cím:	Multiple common variants for celiac disease influencing immune gene expression / Dubois Patrick C. A., Trynka Gosia, Franke Lude, Hunt Karen A., Romanos Jihane, Curtotti Alessandra, Zhernakova Alexandra, Heap Graham A. R., Ádány Róza, Aromaa Arpo, Bardella Maria Teresa, van den Berg Leonard H., Bockett Nicholas A., de la Concha Emilio G., Dema Bárbara, Fehrmann Rudolf S. N., Fernández-Arquero Miguel, Fiatal Szilvia, Grandone Elvira, Green Peter M., Groen Harry J. M., Gwilliam Rhian, Houwen Roderick H. J., Hunt Sarah E., Kaukinen Katri, Kelleher Dermot, Korponay-Szabo Ilma, Kurppa Kalle, MacMathuna Padraic, Mäki Markku, Mazzilli Maria Cristina, McCann Owen T., Mearin M. Luisa, Mein Charles A., Mirza Muddassar M., Mistry Vanisha, Mora Barbara, Morley Katherine I., Mulder Chris J., Murray Joseph A., Núnez Concepción, Oosterom Elvira, Ophoff Roel A., Polanco Isabel, Peltonen Leena, Platteel Mathieu, Rybak Anna, Salomaa Veikko, Schweizer Joachim J., Sperandeo Maria Pia, Tack Greetje J., Turner Graham, Veldink Jan H., Verbeek Wieke H. M., Weersma Rinse K., Wolters Victorien M., Urcelay Elena, Cukrowska Bozena, Greco Luigi, Neuhausen Susan L., McManus Ross, Barisani Donatella, Deloukas Panos, Barrett Jeffrey C., Saavalainen Paivi, Wijmenga Cisca, van Heel David A.
Dátum:	2010
ISSN:	1061-4036
Tárgyszavak:	Orvostudományok Egészségtudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Nature Genetics. - 42 : 4 (2010), p. 295-302. -
További szerzők:	Trynka, Gosia Franke, Lude Hunt, Karen A. Romanos, Jihane Curtotti, Alessandra Zhernakova, Alexandra Heap, Graham A. R. Ádány Róza (1952-) (megelőző orvostan és népegészségtan szakorvos) Aromaa, Arpo Bardella, Maria Teresa Van den Berg, Leonard H. Bockett, Nicholas A. Concha, Emilio G., de la Dema, Bárbara Fehrmann, Rudolf S. N. Fernández-Arquero, Miguel Fiatal Szilvia (1978-) (epidemiológus, népegészségügyi szakember) Grandone, Elvira Green, Peter M. Groen, Harry J. M. Gwilliam, Rhian Houwen, Roderick H. J. Hunt, Sarah E. Kaukinen, Katri Kelleher, Dermot Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kurppa, Kalle MacMathuna, Padraic Mäki, Markku Mazzilli, Maria Cristina McCann, Owen T. Mearin, Maria Luisa Mein, Charles A. Mirza, Muddassar M. Mistry, Vanisha Mora, Barbara Morley, Katherine I. Mulder, Chris J. Murray, Joseph A. Núnez, Concepción Oosterom, Elvira Ophoff, Roel A. Polanco, Isabel Peltonen, Leena Platteel, Mathieu Rybak, Anna Salomaa, Veikko Schweizer, Joachim J. Sperandeo, Maria Pia Tack, Greetje J. Turner, Graham Veldink, Jan H. Verbeek, Wieke H. M. Weersma, Rinse K. Wolters, Victorien M. Urcelay, Elena Cukrowska, Bozena Greco, Luigi Neuhausen, Susan L. McManus, Ross Barisani, Donatella Deloukas, Panos Barrett, Jeffrey C. Saavalainen, Päivi Wijmenga, Cisca Heel, David A., van
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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
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001-es BibID:	BIBFORM048569
Első szerző:	Romanos, Jihane
Cím:	Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants / Jihane Romanos, Anna Rosén, Vinod Kumar, Gosia Trynka, Lude Franke, Agata Szperl, Javier Gutierrez-Achury, Cleo C. van Diemen, Roan Kanninga, Soesma A. Jankipersadsing, Andrea Steck, Georges Eisenbarth, David A. van Heel, Bozena Cukrowska, Valentina Bruno, Maria Cristina Mazzilli, Concepcion Núñez, Jose Ramon Bilbao, M. Luisa Mearin, Donatella Barisani, Marian Rewers, Jill M. Norris, Anneli Ivarsson, H. Marieke Boezen, Edwin Liu, Cisca Wijmenga, PreventCD Group
Dátum:	2014
ISSN:	0017-5749
Megjegyzések:	BACKGROUND:The majority of coeliac disease (CD) patients are not being properly diagnosed and therefore remain untreated, leading to a greater risk of developing CD-associated complications. The major genetic risk heterodimer, HLA-DQ2 and DQ8, is already used clinically to help exclude disease. However, approximately 40% of the population carry these alleles and the majority never develop CD.OBJECTIVE:We explored whether CD risk prediction can be improved by adding non-HLA-susceptible variants to common HLA testing.DESIGN:We developed an average weighted genetic risk score with 10, 26 and 57 single nucleotide polymorphisms (SNP) in 2675 cases and 2815 controls and assessed the improvement in risk prediction provided by the non-HLA SNP. Moreover, we assessed the transferability of the genetic risk model with 26 non-HLA variants to a nested case-control population (n=1709) and a prospective cohort (n=1245) and then tested how well this model predicted CD outcome for 985 independent individuals.RESULTS:Adding 57 non-HLA variants to HLA testing showed a statistically significant improvement compared to scores from models based on HLA only, HLA plus 10 SNP and HLA plus 26 SNP. With 57 non-HLA variants, the area under the receiver operator characteristic curve reached 0.854 compared to 0.823 for HLA only, and 11.1% of individuals were reclassified to a more accurate risk group. We show that the risk model with HLA plus 26 SNP is useful in independent populations.CONCLUSIONS:Predicting risk with 57 additional non-HLA variants improved the identification of potential CD patients. This demonstrates a possible role for combined HLA and non-HLA genetic testing in diagnostic work for CD.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Gut 63 : 3 (2014), p. 415-422. -
További szerzők:	Rosen, Anna Kumar, Vinod Trynka, Gosia Franke, Lude Szperl, Agata Gutierrez-Achury, Javier van Diemen, Cleo C. Kanninga, Roan Jankipersadsing, Soesma A. Steck, Andrea Eisenbarth, Georges Heel, David A., van Cukrowska, Bozena Bruno, Valentina Mazzilli, Maria Cristina Núnez, Concepción Bilbao, Jose Ramon Mearin, Maria Luisa Barisani, Donatella Rewers, Marian Norris, Jill M. Ivarsson, Anneli Boezen, H. Marieke Liu, Edwin Wijmenga, Cisca Korponay-Szabó Ilma (1959-) (gyermekgyógyász) PreventCD Group
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001-es BibID:	BIBFORM056540
Első szerző:	Vriezinga, Sabine Lisa
Cím:	Randomized feeding intervention in infants at high risk for celiac disease / S. L. Vriezinga, R. Auricchio, E. Bravi, G. Castillejo, A. Chmielewska, P. Crespo Escobar, S. Kolaček, S. Koletzko, I. R. Korponay-Szabo, E. Mummert, I. Polanco, H. Putter, C. Ribes-Koninckx, R. Shamir, H. Szajewska, K. Werkstetter, L. Greco, J. Gyimesi, C. Hartman, C. Hogen Esch, E. Hopman, A. Ivarsson, T. Koltai, F. Koning, E. Martinez-Ojinaga, C. te Marvelde, A. Mocic Pavic, J. Romanos, E. Stoopman, V. Villanacci, C. Wijmenga, R. Troncone, M. L. Mearin
Dátum:	2014
ISSN:	0028-4793
Megjegyzések:	BACKGROUND A window of opportunity has been suggested for reducing the risk of celiac disease by introducing gluten to infants at 4 to 6 months of age. METHODS We performed a multicenter, randomized, double-blind, placebo-controlled dietaryintervention study involving 944 children who were positive for HLA-DQ2 or HLADQ8 and had at least one first-degree relative with celiac disease. From 16 to 24 weeks of age, 475 participants received 100 mg of immunologically active gluten daily, and 469 received placebo. Anti-transglutaminase type 2 and antigliadin antibodies were periodically measured. The primary outcome was the frequency of biopsy-confirmed celiac disease at 3 years of age. RESULTS Celiac disease was confirmed by means of biopsies in 77 children. To avoid underestimation of the frequency of celiac disease, 3 additional children who received a diagnosis of celiac disease according to the 2012 European Society for Pediatric Gastroenterology, Hepatology, and Nutrition diagnostic criteria (without having undergone biopsies) were included in the analyses (80 children; median age, 2.8 years; 59% were girls). The cumulative incidence of celiac disease among patients 3 years of age was 5.2% (95% confidence interval [CI], 3.6 to 6.8), with similar rates in the gluten group and the placebo group (5.9% [95% CI, 3.7 to 8.1] and 4.5% [95% CI, 2.5 to 6.5], respectively; hazard ratio in the gluten group, 1.23; 95% CI, 0.79 to 1.91). Rates of elevated levels of anti-transglutaminase type 2 and antigliadin antibodies were also similar in the two study groups (7.0% [95% CI, 4.7 to 9.4] in the gluten group and 5.7% [95% CI, 3.5 to 7.9] in the placebo group; hazard ratio, 1.14; 95% CI, 0.76 to 1.73). Breast-feeding, regardless of whether it was exclusive or whether it was ongoing during gluten introduction, did not significantly influence the development of celiac disease or the effect of the intervention. CONCLUSIONS As compared with placebo, the introduction of small quantities of gluten at 16 to 24 weeks of age did not reduce the risk of celiac disease by 3 years of age in this group of high-risk children. (Funded by the European Commission and others; PreventCD Current Controlled Trials number, ISRCTN74582487.)
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	New England Journal Of Medicine 371 : 14 (2014), p. 1304-1315. -
További szerzők:	Auricchio, Renata Bravi, Enzo (biológus) Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Chmielewska, Anna Crespo-Escobar, Paula Kolaček, Sanja Koletzko, Sibylle Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Mummert, Eckart Polanco, Isabel Putter, Hein Ribes-Koninckx, Carmen Shamir, Raanan (gyermekgyógyász) Szajewska, Hania (gyermekgyógyász) Werkstetter, Katharina (gyermekgyógyász, gasztroenterológus) Greco, Luigi Gyimesi Judit Hartman, Corina Hogen Esch, Caroline Hopman, Erica Ivarsson, Anneli Koltai Tünde Koning, Frits Martinez-Ojinaga, Eva Marvelde, Chantal te Pavic, Ana Romanos, Jihane Stoopman, Els Villanacci, Vincenzo Wijmenga, Cisca Troncone, Riccardo Mearin, Maria Luisa
Pályázati támogatás:	TÁMOP-2.2.11/1/KONV-2012-0023 TÁMOP 101788 OTKA
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