Genomes and Genes
M C Wapenaar
Affiliation: University Medical Center Groningen
Country: The Netherlands
- Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitisM C Wapenaar
Genetics Department, University Medical Center Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
Gut 57:463-7. 2008..Previous studies showed the association of both diseases with variants in MYO9B, presumably involved in epithelial permeability...
- The SPINK gene family and celiac disease susceptibilityMartin C Wapenaar
Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
Immunogenetics 59:349-57. 2007..SPINK4 exhibits CD pathology-related differential gene expression, likely derived from altered goblet cell activity. All of the four SPINK genes tested do not contribute to the genetic risk for CD in the Dutch population...
- Intestinal barrier gene variants may not explain the increased levels of antigliadin antibodies, suggesting other mechanisms than altered permeabilityVictorien M Wolters
Department of Pediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands
Hum Immunol 71:392-6. 2010..Thus, other immunologic phenomena play a role in the increased prevalence of elevated AGA in patients with Down syndrome, possibly involving altered induction and/or maintenance of tolerance...
- Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defectAlienke J Monsuur
Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
Nat Genet 37:1341-4. 2005..55 x 10(-5)). This result is suggestive of a primary impairment of the intestinal barrier in the etiology of celiac disease, which may explain why immunogenic gluten peptides are able to pass through the epithelial barrier...
- No genetic association of the human prolyl endopeptidase gene in the Dutch celiac disease populationBegona Diosdado
Complex Genetics Section, Dept of Biomedical Genetics, Univ Medical Centre Utrecht, Utrecht, The Netherlands
Am J Physiol Gastrointest Liver Physiol 289:G495-500. 2005..These are further supported by the activity determinations in which we observed no differences in PREP activity between CD patients and controls...
- Genetic and functional analysis of pyroglutamyl-peptidase I in coeliac diseaseAlienke J Monsuur
Complex Genetics Section, DBG-Department of Medical Genetics, University Medical Centre, Utrecht, The Netherlands
Eur J Gastroenterol Hepatol 18:637-44. 2006..We also determined the enzymatic activity of PGPEPI in duodenal biopsies. Our results uniformly indicate that PGPEP1 is not involved in the aetiology and pathology of CD...
- A microarray screen for novel candidate genes in coeliac disease pathogenesisB Diosdado
Complex Genetics Group, Department of Biomedical Genetics, University Medical Centre, Utrecht, The Netherlands
Gut 53:944-51. 2004..These genes are involved in pathways not previously implicated in coeliac disease pathogenesis and they may provide new targets for therapy...
- The interferon gamma gene in celiac disease: augmented expression correlates with tissue damage but no evidence for genetic susceptibilityMartin C Wapenaar
Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
J Autoimmun 23:183-90. 2004..Likewise, all alleles were randomly transmitted to affected children in parents-case trios. There is no evidence for IFNG as a predisposing gene in CD, despite its enhanced expression in patients in complete remission...
- Neutrophil recruitment and barrier impairment in celiac disease: a genomic studyBegona Diosdado
Department of Medical Genetics, Division of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands
Clin Gastroenterol Hepatol 5:574-81. 2007..To assess the contribution of either immune response we performed global gene expression profiling of the regenerating mucosa...
- Inflammatory bowel disease and celiac disease: overlaps in the pathology and genetics, and their potential drug targetsEleonora A M Festen
Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
Endocr Metab Immune Disord Drug Targets 9:199-218. 2009..We describe the details and overlaps in the pathomechanism and genetics of inflammatory bowel disease and celiac disease, and discuss potential drug targets for intervention...
- Association analysis of MYO9B gene polymorphisms with celiac disease in a Swedish/Norwegian cohortSilja S Amundsen
Institute of Immunology, University of Oslo, Rikshospitalet University Hospital, Oslo, Norway
Hum Immunol 67:341-5. 2006..Alternatively, it might be due to variable linkage disequilibria in distinct populations in the tested SNPs and a causative mutation yet to be identified or to false positive findings (type I error) in the Dutch study...
- A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21David A van Heel
Centre for Gastroenterology, Institute of Cell and Molecular Science, Queen Mary University of London, London E1 2AT, UK
Nat Genet 39:827-9. 2007..3 x 10(-14), odds ratio = 0.63), suggesting that genetic variation in this region predisposes to celiac disease...
- Newly identified genetic risk variants for celiac disease related to the immune responseKaren A Hunt
Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, UK
Nat Genet 40:395-402. 2008..Type 1 diabetes and celiac disease share HLA-DQ, IL2-IL21, CCR3 and SH2B3 risk regions. Thus, this extensive genome-wide association follow-up study has identified additional celiac disease risk variants in relevant biological pathways...
- A functional candidate screen for coeliac disease genesChristine R Curley
The Broad Institute, Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA
Eur J Hum Genet 14:1215-22. 2006..The findings in coeliac disease need to be replicated. Expanding genetic association studies of these cytochrome genes to other inflammatory conditions should reveal whether their causative influence extends beyond coeliac disease...
- A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 yearsGerrit-Jan de Haan
Epilepsy Institute of The Netherlands, Heemstede, Netherlands
Epilepsia 47:851-9. 2006..CONCLUSIONS: We detected and characterized a novel splicing mutation in the brain-specific KCNQ2 gene by using easily accessible blood leukocytes. Aberrant splicing cosegregates with BFNC but not with photosensitivity...
- A combined genetics and genomics approach to unravelling molecular pathways in coeliac diseaseMartin C Wapenaar
Complex Genetics Group, Department of Biomedical Genetics, University Medical Centre Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
Novartis Found Symp 267:113-34; discussion 134-44. 2005..Furthermore, expression data will point to the molecular pathways involved in the disease pathogenesis...