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2009

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)

Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. International MHC and Autoimmunity Genetics Network (IMAGEN), Rioux JD et al. Proc Natl Acad Sci USA 2009;106(44):18680-5.

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.

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor. Ban M et al. Eur J Hum Genet 2009;17(10):1309-13.

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):799-804.

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.

 

2008

Refining genetic associations in multiple sclerosis. International Multiple Sclerosis Genetics Consortium. Lancet Neurol. 2008;7(7):567-9.

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.

Autoimmune diseases: insights from genome-wide association studies. Lettre G & Rioux JD. Hum Mol Genet. 2008;17(R2):R116-21.

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.

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Graham RR et al. Nat Genet. 2008;40(9):1059-61.

Erythroid-lineage-specific engraftment in patients with severe hemoglobinopathy following allogeneic hematopoietic stem cell transplantation. Armistead PM et al. Exp Hematol. 2008;36(9):1205-15.

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; Feb 13; 57(6):717-20.

Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis. Goyette P et al. Mucosal Immunol. 2008; 1(2):131-138.

Integrating risk factors: HLA-DRB1*1501 and Epstein-Barr virus in multiple sclerosis. De Jager PL et al. Neurology. 2008;Mar 25;70(13 Pt 2):1113-8.

Defining the role of the MHC in autoimmunity: a review and pooled analysis. Fernando MM et al. PLos Genet. 2008;4(4):e1000024.

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.

Association of LY9 in UK and Canadian SLE families. Graham DS et al. Genes Immun. 2008;Mar;9(2):93-102.

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. SLEGEN et al. Nat Genet. 2008;40(2):204-10.

Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Graham DS et al. Nat Genet. 2008;40(1):83-9.

ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands. Weersma RK et al. Am J Gastroenterol 2008;103(3):621-7.

Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population. Engert JC et al. Eur J Hum Genet. 2008;16(1):105-14.

 

2007 

Identification of Two Independent Risk Factors for Lupus within the MHC in United Kingdom Families. Fernando MM et al., PLOS Genet. 2007;3(11):e192.

Risk alleles for multiple sclerosis identified by a genomewide study. International Multiple Sclerosis Genetics Consortium. N Engl J Med. 2007;357(9):851-62.

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):975-83.

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 Jager 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.

A second major histocompatibility complex susceptibility locus for multiple sclerosis. Yeo TW et al., Ann Neurol 2007;61(3):228-36. 

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.

 

2006

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(5804):1461-3.

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. De Bakker PI et al., Nat Genet 2006;38(10):1166-1172. DONNÉES

A functional candidate screen for coeliac disease genes. Curley CR et al., Eur J Hum Genet 2006; 14(11):1215-1222.

A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands. Giallourakis C et al., Genome Res 2006;16(8):1056-72.

Inflammatory bowel disease characteristics among African Americans, Hispanics, and non-Hispanic whites: characterization of a large north American cohort. Nguyen GC et al., Am J Gastroenterol 2006;101:1-12.

Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease. Fisher SA et al., Hum Mutat 2006;27(8):778-785.

Genetics of multifactorial disorders. Oksenberg JR & Rioux JD. In: Vandenbroeck K, ed. Cytokine gene polymorphisms in multifactorial conditions. CRC Taylor & Francis, 2006.

Gastroenterologic and hepatic diseases. Tello-Ruiz MK et al. In: Oksenberg J and Brassat D, eds. Immunogenetics of autoimmune disease. Springer New York 2006;92-104.

Identifying susceptibility genes for immunological disorders: patterns, power, and proof. Plenge R and Rioux JD, Immunol Rev 2006;210:40-51.

T-bet polymorphisms are associated with asthma and airway hyperresponsiveness. Raby BA et al., Am J Respir Crit Care Med 2006;173(1):64-70.

Haplotype analysis of tumour necrosis factor receptor genes in 1p36: no evidence for association with systemic lupus erythematosus. Chadha S et al., Eur J Hum Genet 2006;14(1):69-78.

Reply to Tenesa et al 'Association of DLG5 and inflammatory bowel disease across populations'. Daly MJ and Rioux JD, Eur J Hum Genet 2006;260-1.

Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locus. Achkar JP et al., Am J Gastroenterol 2006;101(3):572-80.

Role of the IBD5 susceptibility locus in the inflammatory bowel diseases. Reinhard C and Rioux JD, Inflamm Bowel Dis 2006;12(3):227-38.

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;14(6):780-90.

Genetic variation in toll-like receptor 9 and susceptibility to systemic lupus erythematosus. De Jager PL et al., Arthritis Rheum 2006;54(4):1279-1282.

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;119(3):305-11.

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. 

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;14(3):317-21. 

  

2005

Paths to understanding the genetic basis of autoimmune disease. Rioux JD and Abbas A, Nature 2005;435:584-9.

The promise and perils of interpreting genetic associations in Crohn’s Disease. Trinh TT and Rioux JD, Gut 2005;54(10):1354-7.

Mapping Autoimmune Disease Genes in Humans: lessons from IBD and SLE. Rioux J. In: Bock G, editor. The Genetics of Autoimmunity. London: The Novartis Foundation 2005;267:94-107.

Haplotype structure of CD40-CD40L (TNFRSF5-TNFSF5) and association analysis in systemic lupus erythematosus. Chadha S et al., Hum Mol Genet 2005;13:669-76.

A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single nucleotide polymorphisms. Miretti MM et al., Am J Hum Genet 2005;76:634-46. DONNÉES

Quantitative founder-effect analysis of French Canadian families identifies specific loci contributing to metabolic phenotypes of hypertension. Hamet P et al., Am J Hum Genet 2005;76:815-32.

Association of DLG5 R30Q variant with Inflammatory Bowel Disease. Daly MJ et al., Eur J Hum Genet 2005;13 :835-9.

Association analysis of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 in SLE Families: Increased 620W Allele Frequency in those with both SLE and Autoimmune Thyroid Disease. Wu H et al., Arthritis Rheum 2005;52:2396-402.

A high-density screen for linkage in multiple sclerosis. International Multiple Sclerosis Genetics Consortium. Am J Hum Genet 2005;77:454-67.

Understanding association and causality in the genetic studies of inflammatory bowel disease. Trinh TT and Rioux JD, Gastroenterology 2005;129(6):2106-10.

Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Plenge RM et al., Am J Hum Genet 2005;77(6):1044-60.

 

2004

Genomewide search for celiac disease susceptibility loci in a Finnish population confirms the contribution of the HLA locus and provides evidence for a locus on 2q23-32. Rioux JD et al., Am J Med Genet 2004;130:345-50.

Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. Van Heel DA et al., Hum Mol Genet 2004;13:763-70.

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. Sawcer SJ et al., Hum Mol Genet 2004;13:1943-49.

Progress towards identifying IBD susceptibility genes. Rioux J. In: Chadwick D, editor. Inflammatory bowel disease: crossroads of microbes, epithelium and immune systems. London: The Novartis Foundation 2004;263:3-11.

New approaches to gene hunting in IBD. Daly MJ and Rioux J.D.  Inflamm Bowel Dis 2004;10-312-7. 

Genome scan analyses and positional cloning strategy in IBD: successes and limitations. Wild GE et al., Best Pract Res Clin Gastroenterol 2004;18:541-53.

Familial Hypereosinophilic Syndrome. Klion AD et al. In: Petrides PE and Pahl HL, eds. Molecular basis of chronic myeloproliferative disorders. Springer-Verlag Berlin-Heidelberg-New York-Tokyo 2004;189-194.

GAMES issue study: Are international genetic consortia functional? De Jager PL et al., J Neuroimmunol 2004;153:5-6.

  

2003

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Mootha VK et al., Proc Natl Acad Sci USA 2003;100:605–10.

IBD5 is a general risk factor for IBD: Replication of association to Crohn’s disease and identification of a novel association to ulcerative colitis. Giallourakis C et al., Am J Hum Genet 2003;73:205–11.

An integrated haplotype map of the human major histocompatibility complex. Walsh EC et al., Am J Hum Genet 2003;73:580–90. DONNÉES

Genetic analysis of multiple sclerosis. Walsh EC et al., J Autoimmunity 2003;21:111–5.

 

2002

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;8:375–81.

CARD15 genetic variation in a Quebec population: prevalence, genotype–phenotype relationship, and haplotype structure. Vermeire S et al., Am J Hum Genet 2002;71:74–83.

 

2001

A genomewide linkage disequilibrium scan localizes the gene for the COX deficiency of the Saguenay-Lac-Saint-Jean. Lee N et al., Am J Hum Genet 2001;68:397–409.

International collaboration provides convincing replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16. Cavanaugh J, The IBD International Genetics Consortium. Am J Hum Genet 2001;68:1165–71.

A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Laitinen T et al., Nat Genet 2001;28:87–91.

Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Hirschhorn JN et al., Am J Hum Genet 2001;69:106–16.

A second generation association study on the 5q31 cytokine gene cluster and IL4RA gene in asthma. Kauppi P et al., Genomics 2001;77:35–42.

Diagnostic misclassification reduces the ability to detect linkage in inflammatory bowel disease genetic studies. Silverberg MS et al., Gut 2001;49:773–6.

Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn’s disease. Rioux JD et al., Nat Genet 2001;29:223–8. DONNÉES

High-resolution haplotype structure in the human genome. Daly MJ et al., Nat Genet 2001;29:229–32. DONNÉES

 

2000

Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system using a simple genetic trait. Gaudet D et al., Am J Hum Genet 2000;66:1558–68.

Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci that potentially implicate the cytokine pathway in disease susceptibility. Rioux JD et al., Am J Hum Genet 2000;66:1863–70.

Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Pajukanta P et al., Am J Hum Genet 2000;67:1481–93.

  

1999

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay in chromosome region 13q11. Richter A et al., Am J Hum Genet 1999;64:768–75.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. Engert JC et al., Genomics 1999;62:156–64.

 

1998

Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Rioux JD et al., Am J Hum Genet 1998;63:1086–94.

Large-scale identification mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Wang DG et al., Science 1998;280:1077–82.

Absence of linkage between inflammatory bowel disease and selected loci on chromsomes 3, 7, 12, and 16. Rioux JD et al., Gastroenterology 1998;115:1062–5.

 

1989 - 1997

Genomewide scan of multiple sclerosis in Finnish multiplex families. Kuokkanen S et al., Am J Hum Genet 1997;61:1379–87.

Generation of diversity in a human anti-viral response. Rioux JD et al., Ann NY Acad Sci 1995;764:381–3.

Anti-DNA and anti-platelet specificities of SLE-derived autoantibodies: evidence for CDR2H mutations and CDR3H motifs. Rioux JD et al., Mol Immunol 1995;32:683–96.

Immunoglobulin gene usage in the human anti-pathogen response. Newkirk MM and Rioux JD, Infect Agents Dis 1995;4:152–60.

Structural characteristics of four human monoclonal antibodies directed against the pp65-kD protein of the human cytomegalovirus and their relationship to human rheumatoid factors. Rioux JD et al., Mol Immunol 1994;31:585–97.

A human rheumatoid factor C304 shares VH and VL gene usage with antibodies specific for ubiquitous human viral pathogens. Rioux JD et al., Scand J Immunol 1994;40:350–4.

Restricted variable region gene usage and possible rheumatoid factor relationship among human monoclonal antibodies specific for the AD-1 epitope on cytomegalovirus glycoprotein. Ohlin M et al., Mol Immunol 1994;31:983–91.

Molecular characterization of the GM 4672 human lymphoblastoid cell line and analysis of its use as a fusion partner in the generation of human–human hybridoma autoantibodies. Rioux JD et al., Hum Antibodies Hybridomas 1993;4:107–14.

Inhibition of murine hepatic tumor growth by liposomes containing a lipophilic muramyl dipeptide. Brodt P et al., Cancer Immunol Immunother 1989;28:54–8.

Activation of murine Kupffer cell tumoricidal activity by liposomes containing lipophilic muramyl dipeptide. Phillips NC et al., Hepatology 1988;8:1046–50.

 
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