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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:	BIBFORM044276
Első szerző:	Einarsdottir, Elisabet
Cím:	Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations / Einarsdottir Elisabet, Bevova Marianna R., Zhernakova Alexandra, Monsuur Alienke, Koskinen Lotta L. E., van't Slot Ruben, Mulder Chris, Mearin M. Luisa, Korponay-Szabo Ilma R., Kaukinen Katri, Kurppa Kalle, Kere Juha, Mäki Markku, Wijmenga Cisca, Saavalainen Päivi
Dátum:	2011
ISSN:	1018-4813
Megjegyzések:	Celiac disease is an inflammatory enteropathy caused by intolerance to gluten. Previous linkage studies in the Dutch, Finnish and Hungarian populations have revealed a locus on chromosome 6q21-22 conferring susceptibility to celiac disease. This locus has previously been implicated in susceptibility to other autoimmune diseases such as Crohn's disease and type 1 diabetes. We performed fine mapping on 446 independent individuals with celiac disease and 641 controls of Dutch origin, testing 872 tagging SNPs in a 22 Mb region of chromosome 6. The 12 most promising SNPs were followed up in 2071 individuals from 284 Finnish and 357 Hungarian celiac disease families to identify risk variants in this region. Multiple markers in the region were significantly associated with celiac disease in the Dutch material. Two SNPs, rs9391227 and rs4946111, were significantly associated with celiac disease in the Finnish population. The association to rs9391227 represents the strongest association signal found in the Finnish (P = 0.003, OR 0.66) as well as the combined Dutch, Finnish and Hungarian populations (P = 3.6 ? 10(-5), OR 0.76). The rs9391227 is situated downstream of the HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1) gene and is contained within a region of strong linkage disequilibrium enclosing HACE1. Two additional, independent, susceptibility variants in the 6q21-22 region were also found in a meta-analysis of the three populations. The 6q21-22 region was confirmed as a celiac disease susceptibility locus and harbors multiple independent associations, some of which may implicate ubiquitin-pathways in celiac disease susceptibility.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	European Journal Of Human Genetics. - 19 : 6 (2011), p. 682-686. -
További szerzők:	Bevova, Marianna R. Zhernakova, Alexandra Monsuur, Alienke Koskinen, Lotta L. E. van't Slot, Ruben Mulder, Chris J. Mearin, Maria Luisa Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kaukinen, Katri Kurppa, Kalle Kere, Juha Mäki, Markku Wijmenga, Cisca Saavalainen, Päivi
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001-es BibID:	BIBFORM100413
035-os BibID:	(cikkazonosító)734763 (WoS)000735534800001 (Scopus)85121575135
Első szerző:	Tan, Ineke L.
Cím:	Circulating miRNAs as Potential Biomarkers for Celiac Disease Development / Tan Ineke L., Coutinho de Almeida Rodrigo, Modderman Rutger, Stachurska Anna, Dekens Jackie, Barisani Donatella, Meijer Caroline R., Roca María, Martinez-Ojinaga Eva, Shamir Raanan, Auricchio Renata, Korponay-Szabó Ilma R., Castillejo Gemma, Szajewska Hania, Koletzko Sibylle, Zhernakova Alexandra, Kumar Vinod, Li Yang, Visschedijk Marijn C., Weersma Rinse K., Troncone Riccardo, Mearin M. Luisa, Wijmenga Cisca, Jonkers Iris, Withoff Sebo
Dátum:	2021
ISSN:	1664-3224
Megjegyzések:	Background & Aims: Celiac disease (CeD), an immune-mediated disease with enteropathy triggered by gluten, affects ~1% of the general European population. Currently, there are no biomarkers to predict CeD development. MicroRNAs (miRNAs) are short RNAs involved in post-transcriptional gene regulation, and certain disease- and stage-specific miRNA profiles have been found previously. We aimed to investigate whether circulating miRNAs can predict the development of CeD. Methods: Using next-generation miRNA-sequencing, we determined miRNAs in >200 serum samples from 53 participants of the PreventCD study, of whom 33 developed CeD during follow-up. Following study inclusion at 3 months of age, samples were drawn at predefined ages, diagnosis (first anti-transglutaminase antibody (TGA) positivity or diagnostic biopsy) and after the start of a gluten-free diet (GFD). This allowed identification of circulating miRNAs that are deregulated before TGA positivity. For validation of the biomarkers for CeD and GFD response, two additional cohorts were included in subsequent meta-analyses. Additionally, miRNAs were measured in duodenal biopsies in a case-control cohort. Results: 53 circulating miRNAs were increased (27) or decreased (26) in CeD versus controls. We assessed specific trends in these individual miRNAs in the PreventCD cohort by grouping the pre-diagnostic samples of the CeD patients (all had negative TGA) by how close to seroconversion (first sample positive TGA) the samples were taken. 8/53 miRNAs differed significantly between controls and samples taken <1 year before TGA positivity: miR-21-3p, miR-374a-5p, 144-3p, miR-500a-3p, miR-486-3p let-7d-3p, let-7e-5p and miR-3605-3p. 6/26 downregulated miRNAs reconstituted upon GFD, including miR-150-5p/-3p, whereas no upregulated miRNAs were downregulated upon GFD. 15/53 biomarker candidates also differed between CeD biopsies and controls, with a concordant direction, indicating that these circulating miRNAs might originate from the intestine. Conclusions: We identified 53 circulating miRNAs that are potential early biomarkers for CeD, of which several can be detected more than a year before TGA positivity and some start to normalize upon GFD.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk mall RNA sequencing pre-diagnostic marker pre-clinical marker autoimmunity celiac disease
Megjelenés:	Frontiers in Immunology. - 12 (2021), p. 1-16. -
További szerzők:	Coutinho de Almeida, Rodrigo Modderman, Rutger Stachurska, Anna Dekens, Jackie Barisani, Donatella Meijer, Caroline R. Roca, María Martinez-Ojinaga, Eva Shamir, Raanan (gyermekgyógyász) Auricchio, Renata Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Szajewska, Hania (gyermekgyógyász) Koletzko, Sibylle Zhernakova, Alexandra Kumar, Vinod Li, Yang Visschedijk, Marijn C. Weersma, Rinse K. Troncone, Riccardo Mearin, Maria Luisa Wijmenga, Cisca Jonkers, Iris Withoff, Sebo
Pályázati támogatás:	NKFI 120392 OTKA GINOP-2.3.2-15-2016-00015 GINOP
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