Download Maladies inflammatoires de l`intestin (MII)

InflammGen
Maladies inflammatoires de l'intestin (MII)
La maladie de Crohn et la colite ulcéreuse sont des maladies inflammatoires idiopathiques du tractus gastro-intestinal.
Ces maladies inflammatoires chroniques ont une incidence maximale au début de l’âge adulte et une prévalence
combinée d'environ 100-200 sur 100,000 individus. Les deux maladies impliquent l'expression altérée des cytokines
pro-inflammatoires et immunorégulatrices dans la muqueuse intestinale. Cependant, les profils cliniques et
pathologiques de ces deux MII sont distincts. Généralement, l'inflammation dans la colite ulcéreuse est limitée à la
muqueuse du côlon et du rectum. Par contre, l'inflammation dans la maladie de Crohn est transmurale, peut se produire
partout dans le tractus gastro-intestinal et est caractérisée par une réponse cellulaire de type T helper 1 (Th1). La
recherche dans notre laboratoire se concentre surtout sur la localisation et la caractérisation des locus qui sont associés
au risque augmenté de développer les maladies inflammatoires de l’intestin.
Publications sélectionnées
Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in
French-Canadian subjects. Dastani Z et al. Eur J Hum Genet 2009 (epub)
Established genetic risk factors do not distinguish early and later onset Crohn's disease. Essers JB et al. Inflamm
Bowel Dis 2009;15(10):1508-14. Phenotypic and genotypic characteristics of inflammatory bowel disease in French
Canadians: Comparison with a large North American repository. Bhat M et al. Am J Gastroenterol 2009;104(9):2233-40.
Genetic variants in the region harbouring IL2/IL21 associated to ulcerative colitis. Festen EA et al. Gut 2009;58(6):799804. The role of the CD58 locus in multiple sclerosis. De Jager PL et al. PNAS 2009;106(13):5264-9.GWA studies:
rewriting the story of IBD. Budarf ML et al. Trends Genet 2009; 25(3):137-46. Ulcerative colitis-risk loci on chromosomes
1p36 and 12q15 found by genome-wide association study. Silverberg MS et al. Nat Genet 2009;41(2):216-20.
Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Villani AC et al. Nat Genet.
2009;41(1):71-6.
Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant. Kuballa P
et al. PLoS ONE. 2008;3(10):e3391.
MAST3: a novel IBD risk factor that modulates TLR4 signaling. Labbé C et al. Genes Immun. 2008;9(7):602-12.
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. McCarroll SA
et al. Nat Genet. 2008;40(9):1107-12.
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Barrett JC et al. Nat
Genet. 2008;40(8):955-62.
Genome-wide association studies: a new window into immune-mediated diseases. Xavier RJ & Rioux JD. Nat Rev
Immunol. 2008;8(8):631-43.
Autophagy as an important process in gut homeostasis and CD pathogenesis. Xavier R et al., Gut. 2008;57(6):717-20.
Autophagy as an important process in gut homeostasis and CD pathogenesis. Xavier R et al. Gut. 2008; Feb 13; 57(6).
Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis. Goyette P et al. Mucosal
Immunol. 2008; 1(2):131-138.
An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on
1p35.2 and 3q29. Shugart YY et al. Genes Immun. 2008;Mar;9(2):161-7.
ATG16L1 and IL23R Are Associated With Inflammatory Bowel Diseases but Not With Celiac Disease in The
Netherlands. Weersma RK et al., Am J Gastroenterol 2007;102:1-7.
Assessment of reliability and validity of IBD phenotyping within the National Institutes of Diabetes and Digestive and
Kidney Diseases (NIDDK) IBD Genetics Consortium (IBDGC). Dassopoulos T et al., Inflamm Bowel Dis 2007;13(8):97583.
http://www.inflammgen.org
Propulsé par Joomla!
Généré: 13 October, 2016, 01:21
InflammGen
Molecular pathogenesis of inflammatory bowel disease: genotypes, phenotypes and personalized medicine. Goyette P et
al., Ann Med. 2007;39(3):177-99. Review.
The role of the Toll receptor pathway in susceptibility to inflammatory bowel diseases. De Jage PL et al., Genes Immun.
2007;8(5):387-97.
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease
pathogenesis. Rioux JD et al., Nat Genet 2007;39(5):596-604.
Prevalence of CARD15/NOD2 mutations in Caucasian healthy people. Hugot JP et al., Am J Gastroenterol
2007;102(6):1259-67.
Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. Silverberg
MS, et al., Eur J Hum Genet 2007;15(3):328-35.
IBD5 is associated with an extensive complicated Crohn’s disease feature: Implications from genotype-phenotype
analysis. Brescianini S et al., Gut 2007;56(1):149-50.
Genetic variation in myosin IXB is associated with ulcerative colitis. van Bodegraven A et al., Gastroenterol
2006;131(6):1768-74.
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Duerr RH et al., Science
2006;314:1461-1463.
The role of inflammatory bowel disease susceptibility loci in multiple sclerosis and systemic lupus erythematosus. De
Jager PL. et al., Genes Immun. 2006;7(4):327-34.
Role of the IBD5 susceptibility locus in the inflammatory bowel diseases. Reinhard C, et al., Inflamm Bowel Dis. 2006
Mar;12(3):227-38.
Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis.
De Jager PL et al., Eur J Hum Genet. 2006 Mar;14(3):317-21.
Reply to Tenesa et al 'Association of DLG5 and inflammatory bowel disease across populations'. Daly MJ et al., Eur J
Hum Genet. 2006 Mar;14(3):260-1.
Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locus. Achkar JP et
al., Am J Gastroenterol. 2006 Mar;101(3):572-80.
Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19. Tello-Ruiz
MK et al., Eur J Hum Genet. 2006 Mar 29.
Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn
disease in men. Friedrichs F et al., Hum Genet. 2006 Apr;119(3):305-11.
The promise and perils of interpreting genetic associations in Crohn's disease. Trinh TTet al., Gut. 2005 Oct;54(10):13547.
Mapping autoimmune disease genes in humans: lessons from IBD and SLE. Vyse TJ et al., Novartis Found Symp.
2005;267:94-107; discussion 107-12. Paths to understanding the genetic basis of autoimmune disease. Rioux JD et al.,
Nature. 2005 Jun 2;435(7042):584-9.
Association of DLG5 R30Q variant with inflammatory bowel disease. Daly MJ et al., Eur J Hum Genet. 2005
Jul;13(7):835-9.
Genome scan analyses and positional cloning strategy in IBD: successes and limitations. Wild GE et al., Best Pract Res
Clin Gastroenterol. 2004 Jun;18(3):541-53. New approaches to gene hunting in IBD. Daly MJ, et al., Inflamm Bowel Dis.
2004 May;10(3):312-7.
Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. van
Heel DA et al., Genome Scan Meta-Analysis Group of the IBD International Genetics Consortium, Hum Mol Genet. 2004
Apr 1;13(7):763-70.
Progress towards identifying inflammatory bowel disease susceptibility genes. Rioux JD., Novartis Found Symp.
http://www.inflammgen.org
Propulsé par Joomla!
Généré: 13 October, 2016, 01:21
InflammGen
2004;263:3-11; discussion 11-6, 211-8.
IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and
identification of a novel association with ulcerative colitis. Giallourakis C et al., Am J Hum Genet. 2003 Jul;73(1):205-11.
Using a genome-wide scan and meta-analysis to identify a novel IBD locus and confirm previously identified IBD loci.
Williams CN et al., Inflamm Bowel Dis. 2002 Nov;8(6):375-81.
CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype
structure. Vermeire S et al., Am J Hum Genet. 2002 Jul;71(1):74-83.
Diagnostic misclassification reduces the ability to detect linkage in inflammatory bowel disease genetic studies. Silverberg
MS et al., Gut. 2001 Dec;49(6):773-6.
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Rioux JD et al., Nat Genet.
2001 Oct;29(2):223-8. DONNÉES
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Rioux JD
et al., Am J Hum Genet. 2000 Jun;66(6):1863-70.
Absence of linkage between inflammatory bowel disease and selected loci on chromosomes 3, 7, 12, and 16. Rioux JD et
al., Gastroenterology. 1998 Nov;115(5):1062-5.
Consortia
Quebec Inflammatory Bowel Disease Genetic Consortium (QIGC)
NIDDK IBD Genetics Consortium
Liens utiles pour informations générales
Crohn's and Colitis Foundation of America
Crohn's and Colitis Foundation of Canada
National Institute of Diabetes and Digestive and Kidney Diseases
National Institute of Allergy and Infectious Diseases
http://www.inflammgen.org
Propulsé par Joomla!
Généré: 13 October, 2016, 01:21