Affiliation: Yale University
- Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3W Zhang
Section of Digestive Diseases, Department of Medicine, Yale University School of Medicine, New Haven, CT, USA
Genes Immun 14:310-6. 2013..The BRD7 signal showed conditional dependence with only the downstream rare CD-causal variants in NOD2, but not with the background haplotype; this elaborates NOD2 as a key illustration of synthetic association. ..
- Host-microbe interactions have shaped the genetic architecture of inflammatory bowel diseaseLuke Jostins
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK
Nature 491:119-24. 2012..Gene co-expression network analysis emphasizes this relationship, with pathways shared between host responses to mycobacteria and those predisposing to IBD...
- Effector CD4+ T cell expression signatures and immune-mediated disease associated genesWei Zhang
Department of Medicine, Section of Digestive Diseases, Yale University School of Medicine, New Haven, Connecticut, United States of America
PLoS ONE 7:e38510. 2012..The comprehensive integration of differential gene expression between cell subsets with disease-association signals, and functional pathways provides insight into disease pathogenesis...
- Pathway analysis comparison using Crohn's disease genome wide association studiesDavid Ballard
Robert S Boas Center for Human Genetics and Genomics, Feinstein Institute for Medical Research, Manhasset, New York, USA
BMC Med Genomics 3:25. 2010....
- Recent insights into the genetics of inflammatory bowel diseaseJudy H Cho
Department of Medicine and Genetics, Yale University, New Haven, Connecticut, USA
Gastroenterology 140:1704-12. 2011..Future genetic studies will be directed toward identifying uncommon variations with potentially greater statistical effects, defining population differences, and more completely accounting for familial transmission of disease...
- The genetics and immunopathogenesis of inflammatory bowel diseaseJudy H Cho
Inflammatory Bowel Disease Center, Section of Digestive Diseases, Yale University, 333 Cedar Street, LMP 1080, New Haven, Connecticut 06520, USA
Nat Rev Immunol 8:458-66. 2008..Comparative analyses of gene associations between these two inflammatory bowel diseases reveal common and unique mechanisms of their immunopathogenesis...
- Inflammatory bowel disease: genetic and epidemiologic considerationsJudy H Cho
Inflammatory Bowel Disease Center, Yale University, 300 Cedar Street, New Haven, CT 06519, USA
World J Gastroenterol 14:338-47. 2008..Future challenges include: (1) the establishment of precisely causal alleles, (2) definition of altered functional outcomes of associated and causal alleles and (3) integration of genetic findings with environmental factors...
- The genetics of inflammatory bowel diseaseJudy H Cho
Inflammatory Bowel Disease Center, Section of Digestive Diseases, Yale University, New Haven, Connecticut 06520 8019, USA
Gastroenterology 133:1327-39. 2007
- Inflammatory bowel disease genetics: Nod2Judy H Cho
Department of Medicine, Yale University, New Haven, Connecticut 06510, USA
Annu Rev Med 58:401-16. 2007..Here we review general aspects of IBD genetics with particular focus on the role of Nod2 in CD...
- Identification of association between disease and multiple markers via sparse partial least-squares regressionHyonho Chun
Department of Epidemiology and Public Health, Yale University, 300 George Street 503, New Haven, CT 06511, USA
Genet Epidemiol 35:479-86. 2011..This approach is able to use information from both traits and marker genotypes. Extensive simulations and real data analyses on a Crohn's disease data set suggest the superiority of this approach over existing methods...
- Comparisons of multi-marker association methods to detect association between a candidate region and diseaseDavid H Ballard
Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06511, USA
Genet Epidemiol 34:201-12. 2010....
- A genome-wide association study identifies IL23R as an inflammatory bowel disease geneRichard H Duerr
Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, University of Pittsburgh Medical Center Presbyterian, Mezzanine Level, C Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USA
Science 314:1461-3. 2006..These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease...
- IL-23 and autoimmunity: new insights into the pathogenesis of inflammatory bowel diseaseClara Abraham
Section of Digestive Diseases, Departments of 1Medicine, Yale University, New Haven, Connecticut 06520, USA
Annu Rev Med 60:97-110. 2009..The identification of IL-23 pathway and Th17 expressed genes in IBD pathogenesis highlights the importance of the proper regulation of the IL-23/Th17 pathway in maintaining intestinal immune homeostasis...
- Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycanDenise K Bonen
Martin Boyer Laboratories, Gastroenterology Section, Department of Medicine, University of Chicago Hospitals, Chicago, Illinois, USA
Gastroenterology 124:140-6. 2003..Except for the L1007fsinsC mutation, which produces a truncated NOD2 protein, the functional activity of the major CD-associated variants G908R and R702W is unknown...
- Practical issues in building risk-predicting models for complex diseasesJia Kang
Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA
J Biopharm Stat 20:415-40. 2010..We also demonstrate the performance of different methods through both simulation studies and application to real-world data...
- MDR1 Ala893 polymorphism is associated with inflammatory bowel diseaseSteven R Brant
The Harvey M and Lyn P Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Am J Hum Genet 73:1282-92. 2003..Taken together, these data support the association of the common Ala893 polymorphism with IBD specifically and, more broadly, provides additional support for its contribution to interindividual pharmacogenetic variation...
- Analysis of keratin polypeptides 8 and 19 variants in inflammatory bowel diseaseGuo Zhong Tao
Department of Medicine, Palo Alto Veterans Affairs Medical Center and Stanford University Digestive Disease Center, Palo Alto, California 94304, USA
Clin Gastroenterol Hepatol 5:857-64. 2007..We asked whether mutations in KRT8 or KRT19, the major intestinal keratins, are associated with UC/CD...
- Guilt by rewiring: gene prioritization through network rewiring in genome wide association studiesLin Hou
Department of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA
Hum Mol Genet 23:2780-90. 2014..Applications in Crohn's disease and Parkinson's disease show that this framework leads to more replicable results, and implicates potentially disease-associated pathways. ..
- Interleukin-23/Th17 pathways and inflammatory bowel diseaseClara Abraham
Department of Medicine, Digestive Diseases, Yale University, New Haven, Connecticut 06520, USA
Inflamm Bowel Dis 15:1090-100. 2009..As such, the IL-23/Th17 pathway contributes to immune responses that play a role in defenses to microbial infection, as well as in the intestinal inflammation observed in both animal models of colitis and human IBD...
- Inflammatory bowel disease characteristics among African Americans, Hispanics, and non-Hispanic Whites: characterization of a large North American cohortGeoffrey C Nguyen
Harvey M and Lyn P Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Am J Gastroenterol 101:1012-23. 2006..This study was undertaken to characterize racial differences in disease phenotype in a predominantly adult population...
- Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutationsJing Li
The Martin Boyer Laboratories, Gastroenterology Section, Department of Medicine, The University of Chicago, IL 60637, USA
Hum Mol Genet 13:1715-25. 2004..Taken together, these studies suggest that a signaling defect of innate immunity to MDP may be an essential underlying defect in the pathogenesis of some CD patients...
- The genetics of inflammatory bowel diseaseDenise K Bonen
The Martin Boyer Laboratories, Gastroenterology Section, Department of Medicine, University of Chicago Hospitals, Illinois 60637, USA
Gastroenterology 124:521-36. 2003....
- L-histidine decarboxylase and Tourette's syndromeA Gulhan Ercan-Sencicek
Yale University School of Medicine, New Haven, CT 06520, USA
N Engl J Med 362:1901-8. 2010..Our findings, together with previously published data from model systems, point to a role for histaminergic neurotransmission in the mechanism and modulation of Tourette's syndrome and tics...
- Bugging of the intestinal mucosaClara Abraham
Department of Medicine, University of Chicago, Chicago, USA
N Engl J Med 357:708-10. 2007
- Functional consequences of NOD2 (CARD15) mutationsClara Abraham
Department of Medicine, Section of Gastroenterology, University of Chicago, Chicago, Illinois 60637, USA
Inflamm Bowel Dis 12:641-50. 2006..Improved understanding of NOD2-mediated pathways may lead to identification of other molecules that can also contribute to the development of Crohn's disease in humans...
- Defining complex contributions of NOD2/CARD15 gene mutations, age at onset, and tobacco use on Crohn's disease phenotypesSteven R Brant
The Harvey M and Lyn P Meyerhoff Inflammatory Bowel Disease Center, Dept of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, U S A
Inflamm Bowel Dis 9:281-9. 2003..Multiple factors, particularly IBD family history, tobacco use, age at diagnosis and recently, NOD2 mutant genotypes may influence Crohn's disease (CD) heterogeneity...
- Significant role of genetics in IBD: the NOD2 geneJudy H Cho
Committee of Genetics, University of Chicago, Chicago, IL, USA
Rev Gastroenterol Disord 3:S18-22. 2003..The presence of an NOD2 risk allele has been shown to be associated with ilial disease as well as an earlier age of disease onset. Further studies are needed to clarify the relationship between IBD genotype and disease behavior...
- A genome scan in 260 inflammatory bowel disease-affected relative pairsM Michael Barmada
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Inflamm Bowel Dis 10:15-22. 2004....
- Clinical aspects and pathophysiology of inflammatory bowel diseaseBarbara A Hendrickson
Section of Infectious Diseases, Department of Pediatrics and the The Martin Boyer Laboratories, University of Chicago, Chicago, Illinois 60637, USA
Clin Microbiol Rev 15:79-94. 2002..Current investigations promise to yield fresh insights in these areas...
- A genome scan in 260 inflammatory bowel disease-affected relative pairsM Michael Barmada
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania 15261, USA
Inflamm Bowel Dis 10:513-20. 2004....
- Advances in the genetics of inflammatory bowel diseaseJudy H Cho
University of Chicago, 5841 South Maryland Avenue, MC 6084, Chicago, IL 60637, USA
Curr Gastroenterol Rep 6:467-73. 2004..Identification of these key pathways will potentially highlight novel therapeutic targets...
- Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's diseaseJeffrey C Barrett
Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Nat Genet 40:955-62. 2008..The expanded molecular understanding of the basis of this disease offers promise for informed therapeutic development...
- Assessment of reliability and validity of IBD phenotyping within the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK) IBD Genetics Consortium (IBDGC)Themistocles Dassopoulos
Johns Hopkins University Meyerhoff Inflammatory Bowel Disease Center, Baltimore MD, USA
Inflamm Bowel Dis 13:975-83. 2007..Our aim was to determine the reliability and validity of these phenotypic assessments...
- Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesisJohn D Rioux
Université de Montréal and the Montreal Heart Institute, Research Center, 5000 rue Belanger, Montreal, Quebec H1T 1C8, Canada
Nat Genet 39:596-604. 2007..Together, these findings suggest that autophagy and host cell responses to intracellular microbes are involved in the pathogenesis of Crohn disease...
- Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locusJean Paul Achkar
Center for Inflammatory Bowel Disease, Department of Gastroenterology, Cleveland Clinic Foundation, Cleveland, OH, USA
Am J Gastroenterol 101:572-80. 2006..The purpose of this study was to assess phenotypic subsets that contribute to the major IBD susceptibility loci...
- Smoking and inflammatory bowel disease: trends in familial and sporadic cohortsJeffrey A Tuvlin
Midwest Gastroenterology Associates, Louisville, Kentucky, USA
Inflamm Bowel Dis 13:573-9. 2007..Never smoking and formerly smoking increase the risk of UC, whereas smoking exacerbates the course of CD. We sought to define the age-dependent effects of smoking on the development of UC and CD in familial and sporadic cohorts...
- Dominant-negative TLR5 polymorphism reduces adaptive immune response to flagellin and negatively associates with Crohn's diseaseAndrew T Gewirtz
Department of Pathology and Laboratory Medicine, Epithelial Pathobiology Unit, Emory University School of Medicine, Atlanta, GA 30322, USA
Am J Physiol Gastrointest Liver Physiol 290:G1157-63. 2006..These results demonstrate that natural acquisition of immune responses to flagellin are regulated by TLR5 and suggest that immune responses to flagellin are not merely associated with CD but rather promote the pathogenic response...
- The IBD international genetics consortium provides further evidence for linkage to IBD4 and shows gene-environment interactionMarie Pierik
Department of Gastroenterology, University Hospital Gasthuisberg, Leuven, Belgium
Inflamm Bowel Dis 11:1-7. 2005..To further characterize this locus, we assessed gene-environment interaction (IBD4 x smoking) and phenotypic heterogeneity in a large cohort of IBD-affected sibling pairs as part of an ongoing international collaborative effort...
- Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's diseaseMark S Silverberg
Department of Medicine, Mount Sinai Hospital IBD Centre, University of Toronto, Toronto, Ontario, Canada
Eur J Hum Genet 15:328-35. 2007....
- Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitisAmir S Karban
Johns Hopkins University School of Medicine, 1503 E Jefferson Street, Room B136, Baltimore, MD 21231, USA
Hum Mol Genet 13:35-45. 2004..Therefore, we have identified the first potentially functional polymorphism of NFKB1 and demonstrated its genetic association with a common human disease, ulcerative colitis...
- Dysregulated LIGHT expression on T cells mediates intestinal inflammation and contributes to IgA nephropathyJing Wang
Department of Pathology, University of Chicago, Chicago, Illinois 60637, USA
J Clin Invest 113:826-35. 2004..These observations indicate the critical contributions of dysregulated LIGHT expression and intestinal inflammation to the pathogenesis of IgAN...
- Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage, transmission/disequilibrium and partitioning of linkageRichard H Duerr
Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania
Hum Mol Genet 11:2599-606. 2002..12). Thus, the existence of an inflammatory bowel disease locus on chromosome 3p26 is supported by significant linkage, transmission/disequilibrium and partitioning of linkage evidence...
- IDENTIFYING MAJOR SUSCEPTIBILITY GENES OF IBDJUDY CHO; Fiscal Year: 2003..Once risk alleles are identified in multiplex families, characterization of the nature and broad significance of specific risk alleles for IBD in a variety of populations will be performed. ..
- Mapping Chromosome 3q Inflammatory Bowel Disease GenesJUDY CHO; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..