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121 results on '"Bardella, M.T."'

1. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-B signalling

Author

Trynka, G., Zhernakova, A., Romanos, J., Franke, L., Hunt, K.A., Turner, G., Bruinenberg, M., Heap, G.A., Platteel, M., Ryan, A.W., de Kovel, C., Holmes, G.K.T., Howdle, P.D., Walters, J.R.F., Sanders, D.S., Mulder, C.J.J., Mearin, M.L., Verbeek, W.H.M., Trimble, V., Stevens, F.M., Kelleher, D., Barisani, D., Bardella, M.T., McManus, R., van Heel, D.A., and Wijmenga, C.

Subjects
Cellular signal transduction -- Research, Celiac disease -- Genetic aspects, Celiac disease -- Risk factors, Celiac disease -- Research, Histocompatibility antigens -- Genetic aspects, Histocompatibility antigens -- Research, HLA histocompatibility antigens -- Genetic aspects, HLA histocompatibility antigens -- Research, Genetic variation -- Research, Health
Published
2009

15. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Author

Trynka, G., Hunt, K.A., Bockett, N.A., Romanos, J., Mistry, V., Szperl, A., Bakker, S.F., Bardella, M.T., Bhaw-Rosun, L., Castillejo, G., Concha, E.G. de la, Almeida, R.C. de, Dias, K.R.M., Diemen, C.C. van, Dubois, P.C.A., Duerr, R.H., Edkins, S., Franke, L., Fransen, K., Gutierrez, J., Heap, G.A.R., Hrdlickova, B., Hunt, S., Izurieta, L.P., Izzo, V., Joosten, L.A.B., Langford, C., Mazzilli, M.C., Mein, C.A., Midah, V., Mitrovic, M., Mora, B., Morelli, M., Nutland, S., Nunez, C., Onengut-Gumuscu, S., Pearce, K., Platteel, M., Polanco, I., Potter, S., Ribes-Koninckx, C., Ricano-Ponce, I., Rich, S.S., Rybak, A., Santiago, J.L., Senapati, S., Sood, A., Szajewska, H., Troncone, R., Varade, J., Wallace, C., Wolters, V.M., Zhernakova, A., Thelma, B.K., Cukrowska, B., Urcelay, E., Bilbao, J.R., Mearin, M.L., Barisani, D., Barrett, J.C., Plagnol, V., Deloukas, P., Wijmenga, C., Heel, D.A. van, Spanish Consortium Genetics Coelia, PreventCD Study Grp, WTCCC, Trynka, G, Hunt, K, Bockett, N, Romanos, J, Mistry, V, Szperl, A, Bakker, S, Bardella, M, Bhaw Rosun, L, Castillejo, G, De la Concha, E, De Almeida, R, Dias, K, Van Diemen, C, Dubois, P, Duerr, R, Edkins, S, Franke, L, Fransen, K, Gutierrez, J, Heap, G, Hrdlickova, B, Hunt, S, Izurieta, L, Izzo, V, Joosten, L, Langford, C, Mazzilli, M, Mein, C, Midah, V, Mitrovic, M, Mora, B, Morelli, M, Nutland, S, Núñez, C, Onengut Gumuscu, S, Pearce, K, Platteel, M, Polanco, I, Potter, S, Ribes Koninckx, C, Ricaño Ponce, I, Rich, S, Rybak, A, Santiago, J, Senapati, S, Sood, A, Szajewska, H, Troncone, R, Varadé, J, Wallace, C, Wolters, V, Zhernakova, A, Spanish Consortium on the Genetics of Coeliac, D, PreventCD Study, G, Wellcome Trust Case Control, C, Thelma, B, Cukrowska, B, Urcelay, E, Bilbao, J, Mearin, M, Barisani, D, Barrett, J, Plagnol, V, Deloukas, P, Wijmenga, C, Van Heel, D, Gastroenterology and hepatology, CCA - Disease profiling, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), and Translational Immunology Groningen (TRIGR)

Subjects
EXPRESSION, Linkage disequilibrium, Population, LOCI, Genome-wide association study, Locus (genetics), Human leukocyte antigen, Biology, PHENOTYPE, Polymorphism, Single Nucleotide, Linkage Disequilibrium, REGION, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Risk Factors, Genetics, RISK VARIANTS, Humans, 1000 Genomes Project, GENOME-WIDE ASSOCIATION, education, Genotyping, POPULATION, 030304 developmental biology, 0303 health sciences, education.field_of_study, celiac disease, GWAS, LARGE-SCALE, BIO/13 - BIOLOGIA APPLICATA, Chromosome Mapping, Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1], GENE, Genetic architecture, Celiac Disease, Haplotypes, Genetic Loci, 030220 oncology & carcinogenesis, Case-Control Studies, MAP, Genome-Wide Association Study
Abstract

Using variants from the 1000 Genomes Project pilot European CEU dataset and data from additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously associated with immune-mediated diseases in 12,041 individuals with celiac disease (cases) and 12,228 controls. We identified 13 new celiac disease risk loci reaching genome-wide significance, bringing the number of known loci (including the HLA locus) to 40. We found multiple independent association signals at over one-third of these loci, a finding that is attributable to a combination of common, low-frequency and rare genetic variants. Compared to previously available data such as those from HapMap3, our dense genotyping in a large sample collection provided a higher resolution of the pattern of linkage disequilibrium and suggested localization of many signals to finer scale regions. In particular, 29 of the 54 fine-mapped signals seemed to be localized to single genes and, in some instances, to gene regulatory elements. Altogether, we define the complex genetic architecture of the risk regions of and refine the risk signals for celiac disease, providing the next step toward uncovering the causal mechanisms of the disease. © 2011 Nature America, Inc. All rights reserved.

Published
2011

23. Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection.

Author

Zhernakova, A., Elbers, C.C., Ferwerda, B., Romanos, J., Trynka, G., Dubois, P.C., Kovel, C.G.F. de, Franke, L., Oosting, M., Barisani, D., Bardella, M.T., Joosten, L.A.B., Saavalainen, P., Heel, D.A. van, Catassi, C., Netea, M.G., Wijmenga, C., Zhernakova, A., Elbers, C.C., Ferwerda, B., Romanos, J., Trynka, G., Dubois, P.C., Kovel, C.G.F. de, Franke, L., Oosting, M., Barisani, D., Bardella, M.T., Joosten, L.A.B., Saavalainen, P., Heel, D.A. van, Catassi, C., Netea, M.G., and Wijmenga, C.

Abstract

Contains fulltext : 88653.pdf (publisher's version ) (Closed access), Celiac disease (CD) is an intolerance to dietary proteins of wheat, barley, and rye. CD may have substantial morbidity, yet it is quite common with a prevalence of 1%-2% in Western populations. It is not clear why the CD phenotype is so prevalent despite its negative effects on human health, especially because appropriate treatment in the form of a gluten-free diet has only been available since the 1950s, when dietary gluten was discovered to be the triggering factor. The high prevalence of CD might suggest that genes underlying this disease may have been favored by the process of natural selection. We assessed signatures of selection for ten confirmed CD-associated loci in several genome-wide data sets, comprising 8154 controls from four European populations and 195 individuals from a North African population, by studying haplotype lengths via the integrated haplotype score (iHS) method. Consistent signs of positive selection for CD-associated derived alleles were observed in three loci: IL12A, IL18RAP, and SH2B3. For the SH2B3 risk allele, we also show a difference in allele frequency distribution (Fst) between HapMap phase II populations. Functional investigation of the effect of the SH2B3 genotype in response to lipopolysaccharide and muramyl dipeptide revealed that carriers of the SH2B3 rs3184504*A risk allele showed stronger activation of the NOD2 recognition pathway. This suggests that SH2B3 plays a role in protection against bacteria infection, and it provides a possible explanation for the selective sweep on SH2B3, which occurred sometime between 1200 and 1700 years ago.

Published
2010

27. 1066 LIVER STIFFNESS IN A SERIES OF CELIAC PATIENTS

Author

Rossi, R.E., primary, Massironi, S., additional, Fraquelli, M., additional, Bardella, M.T., additional, Elli, L., additional, Maggioni, M., additional, Spampatti, M.P., additional, Cavalcoli, F., additional, Colombo, M., additional, and Conte, D., additional

Published
2012
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