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12 results on '"Heel, D.A. van"'

1. Synergy between TLR9 and NOD2 innate immune responses is lost in genetic Crohn's disease

Author

Heel, D.A. van, Ghosh, S., Hunt, K.A., Mathew, C.G., Forbes, A., Jewell, D.P., and Playford, R.J.

Subjects
Crohn's disease -- Genetic aspects, Crohn's disease -- Development and progression, DNA binding proteins -- Analysis, Gene mutations -- Analysis, Antigen receptors, T cell -- Analysis, T cells -- Receptors, T cells -- Analysis, Health
Published
2005

2. Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease. (Inflammatory Bowel Disease)

Author

Negoro, K., McGovern, D.P.B., Kinouchi, Y., Takahashi, S., Lench, N.J., Shimosegawa, T., Carey, A., Cardon, L.R., Jewell, D.P., and Heel, D.A. van

Subjects
Genetic aspects, Crohn's disease -- Genetic aspects
Abstract

Background and aims: Genetic variation in the chromosome 5q3 1 cytokine cluster (IBD5 risk haplotype) has been associated with Crohn's disease (CD) in a Canadian population. We studied the IBD5 [...]

Published
2003

3. NOD2 (CARD15), the first susceptibility gene for Crohn's disease. (Science @lert)

Author

McGovern, D.P.B, Heel, D.A. Van, Ahmad, T., and Jewell, D.P.

Subjects
Genetic aspects, Crohn's disease -- Genetic aspects, Disease susceptibility -- Genetic aspects
Abstract

'This is not the end. It is not even the beginning of the end. But it is, perhaps, the end of the beginning.' Sir Winston Churchill, 1942. Hugot JP, Chamaillard [...]

Published
2001

4. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

Author

Haycock, P.C., Burgess, S., Nounu, A., Zheng, J., Okoli, G.N., Bowden, J., Wade, K.H., Timpson, N.J., Evans, D.M., Willeit, P., Aviv, A., Gaunt, T.R., Hemani, G., Mangino, M., Ellis, H.P., Kurian, K.M., Pooley, K.A., Eeles, R.A., Lee, J.E., Fang, S., Chen, W.V., Law, M.H., Bowdler, L.M., Iles, M.M., Yang, Q., Worrall, B.B., Markus, H.S., Hung, R.J., Amos, C.I., Spurdle, A.B., Thompson, D.J., O'Mara, T.A., Wolpin, B., Amundadottir, L., Stolzenberg-Solomon, R., Trichopoulou, A., Onland-Moret, N.C., Lund, E., Duell, E.J., Canzian, F., Severi, G., Overvad, K., Gunter, M.J., Tumino, R., Svenson, U., Rij, A. van, Baas, A.F., Bown, M.J., Samani, N.J., t'Hof, F.N.G. van, Tromp, G., Jones, G.T., Kuivaniemi, H., Elmore, J.R., Johansson, M., McKay, J., Scelo, G., Carreras-Torres, R., Gaborieau, V., Brennan, P., Bracci, P.M., Neale, R.E., Olson, S.H., Gallinger, S., Li, D., Petersen, G.M., Risch, H.A., Klein, A.P., Han, J., Abnet, C.C., Freedman, N.D., Taylor, P.R., Maris, J.M., Aben, K.K.H., Kiemeney, L.A., Vermeulen, S.H., Wiencke, J.K., Walsh, K.M., Wrensch, M., Rice, T., Turnbull, C., Litchfield, K., Paternoster, L., Standl, M., Abecasis, G.R., SanGiovanni, J.P., Li, Y., Mijatovic, V., Sapkota, Y., Low, S.K., Zondervan, K.T., Montgomery, G.W., Nyholt, D.R., Heel, D.A. van, Hunt, K., Arking, D.E., Ashar, F.N., Sotoodehnia, N., Woo, D., et al., Haycock, P.C., Burgess, S., Nounu, A., Zheng, J., Okoli, G.N., Bowden, J., Wade, K.H., Timpson, N.J., Evans, D.M., Willeit, P., Aviv, A., Gaunt, T.R., Hemani, G., Mangino, M., Ellis, H.P., Kurian, K.M., Pooley, K.A., Eeles, R.A., Lee, J.E., Fang, S., Chen, W.V., Law, M.H., Bowdler, L.M., Iles, M.M., Yang, Q., Worrall, B.B., Markus, H.S., Hung, R.J., Amos, C.I., Spurdle, A.B., Thompson, D.J., O'Mara, T.A., Wolpin, B., Amundadottir, L., Stolzenberg-Solomon, R., Trichopoulou, A., Onland-Moret, N.C., Lund, E., Duell, E.J., Canzian, F., Severi, G., Overvad, K., Gunter, M.J., Tumino, R., Svenson, U., Rij, A. van, Baas, A.F., Bown, M.J., Samani, N.J., t'Hof, F.N.G. van, Tromp, G., Jones, G.T., Kuivaniemi, H., Elmore, J.R., Johansson, M., McKay, J., Scelo, G., Carreras-Torres, R., Gaborieau, V., Brennan, P., Bracci, P.M., Neale, R.E., Olson, S.H., Gallinger, S., Li, D., Petersen, G.M., Risch, H.A., Klein, A.P., Han, J., Abnet, C.C., Freedman, N.D., Taylor, P.R., Maris, J.M., Aben, K.K.H., Kiemeney, L.A., Vermeulen, S.H., Wiencke, J.K., Walsh, K.M., Wrensch, M., Rice, T., Turnbull, C., Litchfield, K., Paternoster, L., Standl, M., Abecasis, G.R., SanGiovanni, J.P., Li, Y., Mijatovic, V., Sapkota, Y., Low, S.K., Zondervan, K.T., Montgomery, G.W., Nyholt, D.R., Heel, D.A. van, Hunt, K., Arking, D.E., Ashar, F.N., Sotoodehnia, N., Woo, D., and et al.

Abstract

Contains fulltext : 174181.pdf (publisher's version ) (Closed access), Importance: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. Objective: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. Data Sources: Genomewide association studies (GWAS) published up to January 15, 2015. Study Selection: GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. Data Extraction and Synthesis: Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. Main Outcomes and Measures: Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. Results: Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420081 cases (median cases, 2526 per disease) and 1093105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cance

Published
2017

6. NOVEL CHEMOKINE RECEPTOR 9 POLYMORPHISMS: CANDIDATE GENES FOR CROHN'S DISEASE (CD)?

Author

McGovern, D.P.B., Heel, D.A. van, Dechairo, B., Ahmad, T., Lench, N.J., and Jewell, D.P.

Subjects
Research, Gastrointestinal diseases -- Research
Abstract

D.P.B. McGovern [1] D.A. van Heel [1] B. Dechairo [2] T. Ahmad [1] N.J. Lench [2] D.P. Jewell [1] (1.) Wellcome Trust Centre for Human Genetics and Gastroenterology Unit, University [...]

Published
2001

8. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

Author

Hunt, K.A., Smyth, D.J., Balschun, T., Ban, M., Mistry, V., Ahmad, T., Anand, V., Barrett, J.C., Bhaw-Rosun, L., Bockett, N.A., Brand, O.J., Brouwer, E., Concannon, P., Cooper, J.D., Dias, K.R.M., Diemen, C.C. van, Dubois, P.C., Edkins, S., Folster-Holst, R., Fransen, K., Glass, D.N., Heap, G.A.R., Hofmann, S., Huizinga, T.W.J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Marrosu, M.G., Mathew, C.G., Mein, C.A., Muller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N.J., Posthumus, M.D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M.J., Sudman, M., Thompson, S.D., Toes, R., Trynka, G., Vyse, T.J., Walker, N.M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S.S., Todd, J.A., Heel, D.A. van, Type 1 Diabet Genetics, UK Inflammatory Bowel Dis IBD, and Wellcome Trust Case

Published
2012

9. 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
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10. 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

11. Common and different genetic background for rheumatoid arthritis and coeliac disease.

Author

Coenen, M.J.H., Trynka, G., Heskamp, S., Franke, B., Diemen, C.C. van, Smolonska, J., Leeuwen, M. van, Brouwer, E., Boezen, M.H., Postma, D.S., Platteel, M., Zanen, P., Lammers, J.W., Groen, H.J., Mali, W.P.Th., Mulder, C.J., Tack, G.J., Verbeek, W.H., Wolters, V.M., Houwen, R.H.J., Mearin, ML, Heel, D.A. van, Radstake, T.R.D.J., Riel, P.L.C.M. van, Wijmenga, C., Barrera Rico, P., Zhernakova, A., Coenen, M.J.H., Trynka, G., Heskamp, S., Franke, B., Diemen, C.C. van, Smolonska, J., Leeuwen, M. van, Brouwer, E., Boezen, M.H., Postma, D.S., Platteel, M., Zanen, P., Lammers, J.W., Groen, H.J., Mali, W.P.Th., Mulder, C.J., Tack, G.J., Verbeek, W.H., Wolters, V.M., Houwen, R.H.J., Mearin, ML, Heel, D.A. van, Radstake, T.R.D.J., Riel, P.L.C.M. van, Wijmenga, C., Barrera Rico, P., and Zhernakova, A.

Abstract

Contains fulltext : 81471.pdf (publisher's version ) (Closed access), Recent genome-wide association studies (GWAS) have revealed genetic risk factors in autoimmune and inflammatory disorders. Several of the associated genes and underlying pathways are shared by various autoimmune diseases. Rheumatoid arthritis (RA) and coeliac disease (CD) are two autoimmune disorders which have commonalities in their pathogenesis. We aimed to replicate known RA loci in a Dutch RA population, and to investigate whether the effect of known RA and CD risk factors generalize across the two diseases. We selected all loci associated to either RA or CD in a GWAS and confirmed in an independent cohort, with a combined P-value cut-off P < 5 x 10(-6). We genotyped 11 RA and 11 CD loci in 1368 RA patients, 795 CD patients and 1683 Dutch controls. We combined our results in a meta-analysis with UK GWAS on RA (1860 cases; 2938 controls) and CD (767 cases; 1422 controls). In the Dutch RA cohort, the PTPN22 and IL2/IL21 variants showed convincing association (P = 3.4 x 10(-12) and P = 2.8 x 10(-4), respectively). Association of RA with the known CD risk variant in the SH2B3 was also observed, predominantly in the subgroup of rheumatoid factor-positive RA patients (P = 0.0055). In a meta-analysis of Dutch and UK data sets, shared association with six loci (TNFAIP3, IL2/IL21, SH2B3, LPP, MMEL1/TNFRSF14 and PFKFB3/PRKCQ) was observed in both RA and CD cohorts. We confirmed two known loci and identified four novel ones for shared CD-RA genetic risk. Most of the shared loci further emphasize a role for adaptive and innate immunity in these diseases.

Published
2009

12. Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.

Author

Zhernakova, A., Alizadeh, B.Z., Bevova, M., Leeuwen, M.A. van, Coenen, M.J.H., Franke, B., Franke, L., Posthumus, M.D., Heel, D.A. van, Steege, G. van der, Radstake, T.R.D.J., Barrera, P., Roep, B.O., Koeleman, B.P., Wijmenga, C., Zhernakova, A., Alizadeh, B.Z., Bevova, M., Leeuwen, M.A. van, Coenen, M.J.H., Franke, B., Franke, L., Posthumus, M.D., Heel, D.A. van, Steege, G. van der, Radstake, T.R.D.J., Barrera, P., Roep, B.O., Koeleman, B.P., and Wijmenga, C.

Abstract

Contains fulltext : 53141.pdf (publisher's version ) (Closed access), Recently, association of celiac disease with common single-nucleotide polymorphism (SNP) variants in an extensive linkage-disequilibrium block of 480 kb containing the KIAA1109, Tenr, IL2, and IL21 genes has been demonstrated in three independent populations (rs6822844P combined=1.3 x 10(-14)). The KIAA1109/Tenr/IL2/IL21 block corresponds to the Idd3 locus in the nonobese diabetic mouse model of type 1 diabetes (T1D). This block was recently found to be associated with T1D in a genomewide association study, although this finding lacks unequivocal confirmation. We therefore aimed to investigate whether the KIAA1109/Tenr/IL2/IL21 region is involved in susceptibility to multiple autoimmune diseases. We tested SNP rs6822844 for association with disease in 350 T1D-affected and 1,047 rheumatoid arthritis (RA)-affected Dutch patients and in 929 controls. We replicated the association with T1D (P=.0006; OR 0.64 [95% CI 0.50-0.83]), and revealed a similar novel association with RA (P=.0002; OR 0.72 [95% CI 0.61-0.86]). Our results replicate and extend the association found in the KIAA1109/Tenr/IL2/IL21 gene region with autoimmune diseases, implying that this locus is a general risk factor for multiple autoimmune diseases.

Published
2007

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