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1.

001-es BibID:BIBFORM096513
Első szerző:Auricchio, Renata
Cím:Growth rate of coeliac children is compromised before the onset of the disease / Auricchio Renata, Stellato Pio, Bruzzese Dario, Cielo Donatella, Chiurazzi Alfredo, Galatola Martina, Castillejo Gemma, Crespo Escobar Paula, Gyimesi Judith, Hartman Corina, Kolacek Sanja, Koletzko Sybille, Korponay-Szabo Ilma, Mearin Maria Luisa, Meijer Caroline, Piescik-Lech Malgoscia, Polanco Isabel, Ribes-Koninckx Carmen, Shamir Raanan, Szajewska Hania, Troncone Riccardo, Greco Luigi
Dátum:2020
ISSN:0003-9888
Megjegyzések:Introduction: Growth impairment has often been described in children who develop coeliac disease (CD). Based on data from the multicentre, longitudinal PreventCD study, we analysed the growth patterns of infants at genetic risk of CD, comparing those who developed CD by 6 years of age (CD 'cases', 113 infants) versus those who did not develop CD by 6 years (no CD 'controls', 831 infants). Methods: Weight and length/height were measured using a longitudinal protocol. Raw measurements were standardised, computing z-scores for length/height and weight; a linear mixed model was fitted to the data in order to compare the rate of growth in the two cohorts. Results: Neither cases nor controls had significant growth failure. However, when the mean z-scores for weight and height were analysed, there was a difference between the two groups starting at fourth month of life. When the growth pattern in the first year was analysed longitudinally using mixed models, it emerged that children who develop CD had a significantly lower growth rate in weight z-score (-0.028/month; 95% CI -0.038 to -0.017; p<0.001) and in length/height z-score (-0.018/month; 95% CI -0.031 to -0.005; p=0.008) than those who do not develop CD. When the whole follow-up period was analysed (0-6 years), differences between groups in both weight and length/height z-scores were confirmed. Conclusion: The growth of children at risk of CD rarely fell below 'clinical standards'. However, growth rate was significantly lower in cases than in controls. Our data suggest that peculiar pathways of growth are present in children who develop CD, long before any clinical or serological signs of the disease appear
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
gastroenterology
growth
paediatric practice
coeliac disease
Megjelenés:Archives Of Disease In Childhood. - 105 : 10 (2020), p. 964-968. -
További szerzők:Stellato, Pio Bruzzese, Dario Cielo, Donatella Chiurazzi, Alfredo Galatola, Martina Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Crespo-Escobar, Paula Gyimesi Judit Hartman, Corina Kolaček, Sanja Koletzko, Sibylle Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Mearin, Maria Luisa Meijer, Caroline R. Pieścik-Lech, Magorzata Polanco, Isabel Ribes-Koninckx, Carmen Shamir, Raanan (gyermekgyógyász) Szajewska, Hania (gyermekgyógyász) Troncone, Riccardo Greco, Luigi
Pályázati támogatás:EU- FP6-2005- FOOD4B- contract no. 03638
Egyéb
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2.

001-es BibID:BIBFORM057430
Első szerző:Auricchio, Renata
Cím:The frequency of coeliac disease (CD) in high-risk young children from families with CD : the Preventcd cohort / R. Auricchio, C. Hogen Esch, G. Castillejo, E. Mummert, E. Bravi, I. Korponay-Szabo, S. Koletzko, L. Greco, R. Troncone, M. L. Mearin, The PreventCD Study Group
Dátum:2011
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
Megjelenés:Journal of Pediatric Gastroenterology and Nutrition 52 : Suppl. 2 (2011), p. E7. -
További szerzők:Hogen Esch, Caroline Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Mummert, Eckart Bravi, Enzo (biológus) Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Koletzko, Sibylle Greco, Luigi Troncone, Riccardo Mearin, Maria Luisa the PREVENTCD Study Group
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3.

001-es BibID:BIBFORM072048
Első szerző:Borrelli, M.
Cím:Intestinal anti-transglutaminase 2 immunoglobulin A deposits in children at risk for coeliac disease (CD) : data from the PreventCD study / Borrelli M., Maglio M., Korponay-Szabó I. R., Vass V., Mearin M. L., Meijer C., Niv-Drori H., Ribes-Koninckx C., Roca M., Shamir R., Troncone R., Auricchio R.
Dátum:2018
ISSN:0009-9104
Megjegyzések:In coeliac disease (CD), anti-tissue transglutaminase 2 immunoglobulin(Ig)A antibodies (anti-TG2) are produced and deposited in the intestine.PreventCD (www.preventcd.com) is a European multi-centre study, whichinvestigates the influence of infant nutrition and that of genetic,immunological and other environmental factors on the risk of developingCD. The aim of the current study was to evaluate the appearance ofintestinal anti-TG2 deposits in very early intestinal biopsies from at-riskinfants and their predictive value for villous atrophy. Sixty-five small bowelbiopsies, performed in 62 children, were investigated for the presenceof intestinal anti-TG2 extracellular IgA deposits by using doubleimmunofluorescence. The biopsies were performed in the presence ofelevated serum levels of CD-associated antibodies and/or symptomssuggesting disease. Deposits of anti-TG2 IgA were present in 53 of 53 CDpatients and three of three potential CD patients. In potential CD patients,mucosal deposits showed a patchy distribution characterized by some areascompletely negative, whereas active CD patients had uniformly present andevident mucosal deposits. Only one of six patients without CD (negative forserum anti-TG2 and with normal mucosa) had intestinal deposits with apatchy distribution and a weak staining. Two of the 53 CD patients receiveda definitive diagnosis of CD after a second or third biopsy; mucosal depositsof anti-TG2 IgA were evaluated in all samples. Before developing villous atrophy, both patients had anti-TG2 deposits in normal mucosalarchitecture, antibodies in one patient being absent in serum. We demonstrated that in CD the intestinal deposits of anti-TG2 are a constant presence and appear very early in the natural history of disease.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
celiac
Megjelenés:Clinical And Experimental Immunology. - 191 : 3 (2018), p. 311-317. -
További szerzők:Maglio, M. Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Vass V. Mearin, Maria Luisa Meijer, Caroline R. Niv-Drori, H. Ribes-Koninckx, Carmen Roca, María Shamir, R. Troncone, Riccardo Auricchio, Renata
Pályázati támogatás:GINOP-2.3.2-15-2016-00015
GINOP
NKFI-120392
NKFI
OTKA-101788
OTKA
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4.

001-es BibID:BIBFORM069474
Első szerző:Crespo-Escobar, Paula
Cím:The role of gluten consumption at an early age in celiac disease development : a further analysis of the prospective PreventCD cohort study / Crespo-Escobar Paula, Mearin Maria Luisa, Hervás David, Auricchio Renata, Castillejo Gemma, Gyimesi Judit, Martinez-Ojinaga Eva, Werkstetter Katharina, Vriezinga Sabine Lisa, Korponay-Szabo Ilma Rita, Polanco Isabel, Troncone Riccardo, Stoopman Els, Kolaček Sanja, Shamir Raanan, Szajewska Hania, Koletzko Sibylle, Ribes-Koninckx Carmen
Dátum:2017
ISSN:0002-9165
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:American Journal of Clinical Nutrition 105 : 4 (2017), p. 890-896. -
További szerzők:Mearin, Maria Luisa Hervás, David Auricchio, Renata Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Gyimesi Judit Martinez-Ojinaga, Eva Werkstetter, Katharina (gyermekgyógyász, gasztroenterológus) Vriezinga, Sabine Lisa (gyermekgyógyász) Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Polanco, Isabel Troncone, Riccardo Stoopman, Els Kolaček, Sanja Shamir, Raanan (gyermekgyógyász) Szajewska, Hania (gyermekgyógyász) Koletzko, Sibylle Ribes-Koninckx, Carmen
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5.

001-es BibID:BIBFORM091976
Első szerző:Husby, Steffen
Cím:European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020 / Steffen Husby, Sibylle Koletzko, Ilma Korponay-Szabó, Kalle Kurppa, Maria Luisa Mearin, Carmen Ribes-Koninckx, Raanan Shamir, Riccardo Troncone, Renata Auricchio, Gemma Castillejo, Robin Christensen, Jernej Dolinsek, Peter Gillett, Asbjørn Hróbjartsson, Tunde Koltai, Markku Maki, Sabrina Mai Nielsen, Alina Popp, Ketil Størdal, Katharina Werkstetter, Margreet Wessels
Dátum:2020
ISSN:0277-2116
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Journal of pediatric gastroenterology and nutrition. - 70 : 1 (2020), p. 141-156. -
További szerzők:Koletzko, Sibylle Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kurppa, Kalle Mearin, Maria Luisa Ribes-Koninckx, Carmen Shamir, Raanan (gyermekgyógyász) Troncone, Riccardo Auricchio, Renata Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Christensen, Robin Dolinśek, Jernej Gillett, Peter Hróbjartsson, Asbjørn Koltai Tünde Mäki, Markku Nielsen, Sabrina Mai Popp, Alina Størdal, Ketil Werkstetter, Katharina (gyermekgyógyász, gasztroenterológus) Wessels, Margreet
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6.

001-es BibID:BIBFORM044266
Első szerző:Husby, Steffen
Cím:European Society for Pediatric Gastroenterology, Hepatology, and Nutrition Guidelines for the Diagnosis of Coeliac Disease / Husby, S., Koletzko, S., Korponay-Szabó, I. R., Mearin, M. L., Phillips, A., Shamir, R., Troncone, R., Giersiepen, K., Branski, D., Catassi, C., Lelgeman, M., Mäki, M., Ribes-Koninckx, C., Ventura, A., Zimmer, K. P., the ESPGHAN Working Group on Coeliac Disease Diagnosis, the ESPGHAN Gastroenterology Committee
Dátum:2012
ISSN:0277-2116
Megjegyzések:OBJECTIVE: Diagnostic criteria for coeliac disease (CD) from the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) were published in 1990. Since then, the autoantigen in CD, tissue transglutaminase, has been identified; the perception of CD has changed from that of a rather uncommon enteropathy to a common multiorgan disease strongly dependent on the haplotypes human leukocyte antigen (HLA)-DQ2 and HLA-DQ8; and CD-specific antibody tests have improved.METHODS:A panel of 17 experts defined CD and developed new diagnostic criteria based on the Delphi process. Two groups of patients were defined with different diagnostic approaches to diagnose CD: children with symptoms suggestive of CD (group 1) and asymptomatic children at increased risk for CD (group 2). The 2004 National Institutes of Health/Agency for Healthcare Research and Quality report and a systematic literature search on antibody tests for CD in paediatric patients covering the years 2004 to 2009 was the basis for the evidence-based recommendations on CD-specific antibody testing.RESULTS:In group 1, the diagnosis of CD is based on symptoms, positive serology, and histology that is consistent with CD. If immunoglobulin A anti-tissue transglutaminase type 2 antibody titers are high (>10 times the upper limit of normal), then the option is to diagnose CD without duodenal biopsies by applying a strict protocol with further laboratory tests. In group 2, the diagnosis of CD is based on positive serology and histology. HLA-DQ2 and HLA-DQ8 testing is valuable because CD is unlikely if both haplotypes are negative.CONCLUSIONS:The aim of the new guidelines was to achieve a high diagnostic accuracy and to reduce the burden for patients and their families. The performance of these guidelines in clinical practice should be evaluated prospectively.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
celiac disease
Megjelenés:Journal Of Pediatric Gastroenterology And Nutrition 54 : 1 (2012), p. 136-160. -
További szerzők:Koletzko, Sibylle Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Mearin, Maria Luisa Phillips, A. Shamir, R. Troncone, Riccardo Giersiepen, Klaus Branski, D. Catassi, Carlo Lelgemann, Monika Mäki, Markku Ribes-Koninckx, Carmen Ventura, Alessandro Zimmer, Klaus-Peter the ESPGHAN Working Group on Coeliac Disease Diagnosis the ESPGHAN Gastroenterology Committee
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7.

001-es BibID:BIBFORM072051
Első szerző:Korponay-Szabó Ilma (gyermekgyógyász)
Cím:Adaptive diagnosis of coeliac disease / Korponay-Szabó Ilma R., Troncone Riccardo, Discepolo Valentina
Dátum:2015
ISSN:1521-6918
Megjegyzések:Coeliac disease has for a long time simply been regarded as a gluten-dependent enteropathy and a duodenal biopsy was required in all patients for the diagnosis. It is now accepted that autoimmunity against transglutaminase 2 is an earlier, more universal and more specific feature of coeliac disease than histologic lesions. Moreover, high serum levels of combined anti-transglutaminase 2 and anti-endomysium antibody positivity have excellent predictive value for the presence of enteropathy with villous atrophy. This makes the histology evaluation of the gut no longer necessary in well defined symptomatic paediatric patients with compatible HLA-DQ2 and/or DQ8 background. The biopsy-sparing diagnostic route is not yet recommended by gastroenterologists for adults, and certain clinical circumstances (immunodeficiency conditions, extraintestinal manifestations, type-1 diabetes mellitus, age less than 2 years) may require modified diagnostic approaches. Coeliac patients with preserved duodenal villous structure do exist and these need a more extended evaluation by immunologic and molecular biology tools.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
celiac
Megjelenés:Best Practice & Research In Clinical Gastroenterology 29 : 3 (2015), p. 381-398. -
További szerzők:Troncone, Riccardo Discepolo, Valentina
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8.

001-es BibID:BIBFORM057433
Első szerző:Korponay-Szabó Ilma (gyermekgyógyász)
Cím:Evolution and HLA-association of the early infantile gliadin antibody response in a high-risk cohort for coeliac disease / Korponay-Szabo I. R., Koletzko S., Gyimesi J., Castillejo G., Mummert E., Bravi E., Ribes-Koninckx C., Polanco I., Shamir R., Kolacek S., Troncone R., Mearin M. L.
Dátum:2013
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
Megjelenés:United European Gastroenterology Journal 1 : Suppl. 1 (2013), p. A581. -
További szerzők:Koletzko, Sibylle Gyimesi Judit Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Mummert, Eckart Bravi, Enzo (biológus) Ribes-Koninckx, Carmen Polanco, Isabel Shamir, Raanan (gyermekgyógyász) Kolaček, Sanja Troncone, Riccardo Mearin, Maria Luisa
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9.

001-es BibID:BIBFORM044305
Első szerző:Korponay-Szabó Ilma (gyermekgyógyász)
Cím:Tissue Transglutaminase Is the Target in Both Rodent and Primate Tissues for Celiac Disease - Specific Autoantibodies / Korponay-Szabo Ilma R., Sulkanen Satu, Halttunen Tuula, Maurano Francesco, Rossi Mauro, Mazzarella Giuseppe, Laurila Kaija, Troncone Riccardo, Maki Markku
Dátum:2000
ISSN:0277-2116
Megjegyzések:BACKGROUND:Endomysial antibodies have recently been shown to react with tissue transglutaminase. This study was undertaken to investigate whether the tissue distribution of transglutaminase is also compatible with reticulin, jejunal, and fibroblast autoantibody binding patterns.METHODS:Sera from patients with and without celiac disease, monoclonal tissue transglutaminase antibodies, and sera from mice parenterally immunized against commercially available tissue transglutaminase, transglutaminase complexed with gliadin, or gliadin were used in indirect immunofluorescence and double-staining studies using both rodent and primate tissues as substrates. Also, antibody competition, affinity chromatography, and potassium thiocyanate extraction studies were undertaken.RESULTS:Tissue transglutaminase antibody binding patterns were identical with the extracellular binding patterns seen with celiac patient sera. Human umbilical cord-derived fibroblasts exhibited both cytoplasmic and extracellular matrix staining. Double staining with patients' sera and tissue transglutaminase antibodies showed complete overlapping. Tissue transglutaminase effectively absorbed reticulin-endomysial antibodies from celiac sera, and patients' sera blocked the staining of the monoclonal tissue transglutaminase antibodies. Potassium thiocyanate extraction abolished the staining patterns, but they were elicited again after readdition of tissue transglutaminase.CONCLUSIONS:Reticulin, endomysial, and jejunal antibodies detect transglutaminase in both rodent and primate tissues, indicating that these tissue autoantibodies are identical
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Journal Of Pediatric Gastroenterology And Nutrition. - 31 : 5 (2000), p. 520-527. -
További szerzők:Sulkanen, Satu Halttunen, Tuula Maurano, Francesco Rossi, Mauro Mazzarella, Giuseppe Laurila, Kaija Troncone, Riccardo Mäki, Markku
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10.

001-es BibID:BIBFORM103510
035-os BibID:(Wos)000841921200031 (Scopus)85136851907
Első szerző:Mearin, Maria Luisa
Cím:ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease / Mearin Maria Luisa, Agardh Daniel, Antunes Henedina, Al-toma Abdul, Auricchio Renata, Castillejo Gemma, Catassi Carlo, Ciacci Carolina, Discepolo Valentina, Dolinsek Jernej, Donat Ester, Gillett Peter, Guandalini Steffano, Husby Steffen, Koletzko Sibylle, Koltai Tunde, Korponay-Szabó Ilma Rita, Kurppa Kalle, Lionetti Elena, Marild Karl, Martinez Ojinaga Eva, Meijer Caroline, Monachesi Chiara, Polanco Isabel, Popp Alina, Roca Maria, Rodriguez-Herrera Alfonso, Shamir Raanan, Størdal Ketil, Troncone Riccardo, Valitutti Francesco, Vreugdenhil Anita, Wessels Margreet, Whiting Penny, ESPGHAN Special Interest Group on Celiac Disease
Dátum:2022
ISSN:0277-2116
Megjegyzések:Objectives: To gather the current evidence and to offer recommendations for follow-up and management. Methods: The Special Interest Group on Celiac Diseases of the European Society of Paediatric Gastroenterology Hepatology and Nutrition formulated ten questions considered to be essential for follow-up care. A literature search (January 2010-March 2020) was performed in PubMed or Medline. Relevant publications were identified and potentially eligible studies were assessed. Statements and recommendations were developed and discussed by all coauthors. Recommendations were voted upon: joint agreement was set as at least 85%. Results: Publications (n = 2775) were identified and 164 were included. Using evidence or expert opinion, 37 recommendations were formulated on: The need to perform follow-up, its frequency and what should be assessed, how to assess adherence to the gluten-free diet, when to expect catch-up growth, how to treat anemia, how to approach persistent high serum levels of antibodies against tissue-transglutaminase, the indication to perform biopsies, assessment of quality of life, management of children with unclear diagnosis for which a gluten-challenge is indicated, children with associated type 1 diabetes or IgA deficiency, cases of potential celiac disease, which professionals should perform follow-up, how to improve the communication to patients and their parents/caregivers and transition from pediatric to adult health care. Conclusions: We offer recommendations to improve follow-up of children and adolescents with celiac disease and highlight gaps that should be investigated to further improve management.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Journal Of Pediatric Gastroenterology And Nutrition. - 75 : 3 (2022), p. 369-386. -
További szerzők:Agardh, Daniel Antunes, Henedina Al-toma, Abdul Auricchio, Renata Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Catassi, Carlo Ciacci, Carolina Discepolo, Valentina Dolinśek, Jernej Donat, Ester Gillett, Peter Guandalini, Steffano Husby, Steffen Koletzko, Sibylle Koltai Tünde Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kurppa, Kalle Lionetti, Elena Marild, Karl Martinez Ojinaga, Eva Meijer, Caroline R. Monachesi, Chiara Polanco, Isabel Popp, Alina Roca, María Rodriguez-Herrera, Alfonso Shamir, Raanan (gyermekgyógyász) Størdal, Ketil Troncone, Riccardo Valitutti, Francesco Vreugdenhil, Anita C. E. Wessels, Margreet Whiting, Penny ESPGHAN Special Interest Group on Celiac Disease
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11.

001-es BibID:BIBFORM101855
Első szerző:Meijer, Caroline R.
Cím:Prediction models for celiac disease development in children from high-risk families : data from the PreventCD cohort / Meijer Caroline R., Auricchio Renata, Putter Hein, Castillejo Gemma, Crespo Paula, Gyimesi Judit, Hartman Corina, Kolacek Sanja, Koletzko Sibylle, Korponay-Szabo Ilma, Ojinaga Eva Martinez, Polanco Isabel, Ribes-Koninckx Carmen, Shamir Raanan, Szajewska Hania, Troncone Riccardo, Villanacci Vincenzo, Werkstetter Katharina, Mearin M. Luisa
Dátum:2022
ISSN:0016-5085
Megjegyzések:Background and aims: Screening for celiac disease (CD) is recommended in children with affected first-degree relatives (FDR). However, the frequency of screening and at what age remain unknown. Aims: to detect variables influencing the risk of CD-development and develop and validate clinical prediction models to provide individualized screening advice. Methods: Analysis of prospective data from the ten years follow-up of the PreventCD-birth cohort involving 944 genetically predisposed children with CD-FDR. Variables significantly influencing the CD-risk were combined to determine a risk score. Landmark analyses were performed at different ages. Prediction models were created by multivariable Cox proportional hazards regression analyses, backward elimination and Harrell's c-index for discrimination. Validation was done using data from the independent NeoCel cohort. Results: In March 2019, the median follow-up was 8.3 years (22 days-12.0 years); 135/944 children developed CD (mean age 4.3years (1.1-11.4). CD developed significantly more often in girls (p=0.005) and in HLA-DQ2 homozygous individuals (8-year cumulative incidence 35.4% versus maximum of the other HLA-risk groups 18.2% [P<0.001]). The effect of homozygosity DR3-DQ2/DR7-DQ2 on CD-developing was only present in girls (interaction p=0.04). The prediction models showed good fitting in the validation cohort (Cox regression 0.81(0.54)). To calculate a personalized risk of CD-development and provide screening advice, we designed the Prediction application https://hputter.shinyapps.io/preventcd/. Conclusion: Children with CD-FDR develop CD early in life, and their risk depends on gender, age and HLA-DQ:all factors which are important for a sound screening advice. These children should be screened early in life, including HLA-DQ2/8-typing, and if genetically predisposed to CD, should get further personalized screening advice using our Prediction app.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
celiac disease
Megjelenés:Gastroenterology. - 163 : 2 (2022), p. 426-436. -
További szerzők:Auricchio, Renata Putter, Hein Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Crespo-Escobar, Paula Gyimesi Judit Hartman, Corina Kolaček, Sanja Koletzko, Sibylle Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Ojinaga, Eva Martinez Polanco, Isabel Ribes-Koninckx, Carmen Shamir, Raanan (gyermekgyógyász) Szajewska, Hania (gyermekgyógyász) Troncone, Riccardo Villanacci, Vincenzo Werkstetter, Katharina (gyermekgyógyász, gasztroenterológus) Mearin, Maria Luisa
Pályázati támogatás:OTKA-101788
OTKA
TAMOP 2.2.11/1/KONV-2012-0023
TÁMOP
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12.

001-es BibID:BIBFORM100891
035-os BibID:(cikkazonosító)843086 (WoS)000820299300001 (Scopus)85127499983
Első szerző:Ramírez-Sánchez, Aarón D.
Cím:Single-Cell RNA Sequencing of Peripheral Blood Mononuclear Cells From Pediatric Coeliac Disease Patients Suggests Potential Pre-Seroconversion Markers / Ramírez-Sánchez Aarón D., Chu Xiaojing, Modderman Rutger, Kooy-Winkelaar Yvonne, Koletzko Sibylle, Korponay-Szabó Ilma R., Troncone Riccardo, Wijmenga Cisca, Mearin Luisa, Withoff Sebo, Jonkers Iris H., Li Yang
Dátum:2022
ISSN:1664-3224
Megjegyzések:Celiac Disease (CeD) is a complex immune disorder involving villous atrophy in the small intestine that is triggered by gluten intake. Current CeD diagnosis is based on late-stage pathophysiological parameters such as detection of specific antibodies in blood and histochemical detection of villus atrophy and lymphocyte infiltration in intestinal biopsies. To date, no early onset biomarkers are available that would help prevent widespread villous atrophy and severe symptoms and co-morbidities. To search for novel CeD biomarkers, we used single-cell RNA sequencing (scRNAseq) to investigate PBMC samples from 11 children before and after seroconversion for CeD and 10 control individuals matched for age, sex and HLA-genotype. We generated scRNAseq profiles of 9559 cells and identified the expected major cellular lineages. Cell proportions remained stable across the different timepoints and health conditions, but we öbserved differences in gene expression profiles in specific cell types when comparing patient samples before and after disease development and comparing patients with controls. Based on the time when transcripts were differentially expressed, we could classify the deregulated genes as biomarkers for active CeD or as potential pre-diagnostic markers. Pathway analysis showed that active CeD biomarkers display a transcriptional profile associated with antigen activation in CD4+ T cells, whereas NK cells express a subset of biomarker genes even before CeD diagnosis. Intersection of biomarker genes with CeD-associated genetic risk loci pinpointed genetic factors that might play a role in CeD onset.Investigation of potential cellular interaction pathways of PBMC cell subpopulations highlighted the importance of TNF pathways in CeD. Altogether, our results pinpoint genes and pathways that are altered prior to and during CeD onset, thereby identifying novel potential biomarkers for CeD diagnosis in blood.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
celiac disease
scRNAseq
PBMC
differential gene expression
pre-diagnostic biomarkers
Megjelenés:Frontiers in Immunology. - 13 (2022), p. 1-14. -
További szerzők:Chu, Xiaojing Modderman, Rutger Kooy-Winkelaar, Yvonne Koletzko, Sibylle Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Troncone, Riccardo Wijmenga, Cisca Mearin, Maria Luisa Withoff, Sebo Jonkers, Iris Li, Yang
Pályázati támogatás:NKFI 120392
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GINOP-2.3.2-15-2016-00015
GINOP
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