A
Agata Szperl
Researcher at University of Groningen
Publications - 10
Citations - 1086
Agata Szperl is an academic researcher from University of Groningen. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 9, co-authored 10 publications receiving 985 citations. Previous affiliations of Agata Szperl include University Medical Center Groningen.
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Journal ArticleDOI
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
Gosia Trynka,Karen A. Hunt,Nicholas A. Bockett,Jihane Romanos,Vanisha Mistry,Agata Szperl,Sjoerd F. Bakker,Maria Teresa Bardella,Leena Bhaw-Rosun,Gemma Castillejo,Emilio G. de la Concha,Rodrigo Coutinho de Almeida,Kerith-Rae Dias,Cleo C. van Diemen,Patrick Dubois,Richard H. Duerr,Sarah Edkins,Lude Franke,Karin Fransen,Javier Gutierrez,Graham A. Heap,Barbara Hrdličková,Sarah E. Hunt,Leticia Plaza Izurieta,V. Izzo,Leo A. B. Joosten,Cordelia Langford,Maria Cristina Mazzilli,Charles A. Mein,Vandana Midah,Mitja Mitrovic,Barbara Mora,Marinita Morelli,Sarah Nutland,Concepción Núñez,Suna Onengut-Gumuscu,Kerra Pearce,Mathieu Platteel,Isabel Polanco,Simon C. Potter,Carmen Ribes-Koninckx,Isis Ricaño-Ponce,Stephen S. Rich,Anna Rybak,Jose Luis Santiago,Sabyasachi Senapati,Ajit Sood,Hania Szajewska,Riccardo Troncone,Jezabel Varadé,Chris Wallace,Victorien M. Wolters,Alexandra Zhernakova,B.K. Thelma,Bożena Cukrowska,Elena Urcelay,Jose Ramon Bilbao,M. Luisa Mearin,Donatella Barisani,Jeffrey C. Barrett,Vincent Plagnol,Panos Deloukas,Cisca Wijmenga,David A. van Heel +63 more
TL;DR: The complex genetic architecture of the risk regions of and refine the risk signals for celiac disease are defined, providing the next step toward uncovering the causal mechanisms of the disease.
Journal ArticleDOI
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 K. Steck,Georges Eisenbarth,David A. van Heel,Bożena Cukrowska,V. Bruno,Maria Cristina Mazzilli,Concepción Núñez,Jose Ramon Bilbao,M. Luisa Mearin,Donatella Barisani,Marian Rewers,Jill M. Norris,Anneli Ivarsson,H. Marieke Boezen,Edwin Liu,Cisca Wijmenga +25 more
TL;DR: Predicting risk with 57 additional non-HLA variants improved the identification of potential CD patients and demonstrates a possible role for combined HLA and non- HLA genetic testing in diagnostic work for CD.
Journal ArticleDOI
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease
Monique Stoffels,Agata Szperl,Anna Simon,Mihai G. Netea,Theo S. Plantinga,Marcel van Deuren,Sylvia Kamphuis,Helen J. Lachmann,Edwin Cuppen,Wigard P. Kloosterman,Joost Frenkel,Cleo C. van Diemen,Cisca Wijmenga,Marielle E. van Gijn,Jos W. M. van der Meer +14 more
TL;DR: Heterozygous mutations at amino acid position 577 of pyrin can induce an autosomal dominant autoinflammatory syndrome, which suggests that T577, located in front of the C-terminal B30.2/SPRY domain, is crucial for pyrIn function.
Journal ArticleDOI
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.
Agata Szperl,Magdalena R. Golachowska,Marcel Bruinenberg,Rytis Prekeris,Andy-Mark W. H. Thunnissen,Arend Karrenbeld,Gerard Dijkstra,Dick Hoekstra,David F. Mercer,Janusz Ksiazyk,Cisca Wijmenga,Martin C. Wapenaar,Edmond H. H. M. Rings,Sven C.D. van IJzendoorn +13 more
TL;DR: Functional analysis indicates that MYO5B mutations can be correlated with an aberrant subcellular distribution of the myosin Vb protein, and apical recycling endosomes, which, together with the additional compound heterozygous mutations, significantly strengthen the link between MYO 5B and MVID.
Journal ArticleDOI
Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant
Rodrigo Coutinho de Almeida,Rodrigo Coutinho de Almeida,Isis Ricaño-Ponce,Vinod Kumar,Patrick Deelen,Agata Szperl,Gosia Trynka,Javier Gutierrez-Achury,Alexandros Kanterakis,Harm-Jan Westra,Lude Franke,Morris A. Swertz,Mathieu Platteel,Jose Ramon Bilbao,Donatella Barisani,Luigi Greco,Luisa Mearin,Victorien M. Wolters,Chris J. J. Mulder,Maria Cristina Mazzilli,Ajit Sood,Bożena Cukrowska,Concepción Núñez,Riccardo Pratesi,Sebo Withoff,Cisca Wijmenga +25 more
TL;DR: The results suggest that rs4686484 is the functional variant in this locus, while LPP expression is decreased in CeD, and this SNP was predicted to change the binding motif of the transcription factors IRF4, IRF11, Nkx2.9, suggesting its role in transcriptional regulation.