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Genomes and Genes | F PociotSummaryAffiliation: Novo Nordisk Country: Denmark Publications
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Publications
A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish populationCaroline Brorsson
Steno Diabetes Center, Niels Steensensvej 1, DK 2820 Gentofte, Denmark
Mol Genet Metab 94:386-8. 2008..We genotyped rs13266634 in 3008 cases and controls and 246 families from Denmark. Association to T1D could not be demonstrated...
Combined genome and proteome approach to identify new susceptibility genesFlemming Pociot
Steno Diabetes Center, Gentofte, Denmark
Am J Med Genet 115:55-60. 2002..Combining the information from this proteome approach with genetic studies makes us believe that it is possible to reach this goal...
Genetics of type 1 diabetes mellitusF Pociot
Steno Diabetes Center, DK 2820 Gentofte, Denmark
Genes Immun 3:235-49. 2002..Elucidation of the function of particular genes ('functional genomics') in the pathogenesis of T1D will be a most important element in future studies in this field, in addition to more sophisticated methods of statistical analyses...
No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibilityF Pociot
Steno Diabetes Center, Niels Steensensvej 2, DK 2820 Gentofte, Denmark
Diabetes Metab Res Rev 17:292-5. 2001..Sel-1 is a negative regulator of the Notch signalling pathway and SEL1L is selectively expressed in adult pancreas and islets of Langerhans. This suggests that SEL1L may be a candidate gene for IDDM11...
CTLA4 gene and autoimmune endocrinopathies: a new marker?F Pociot
Steno Diabetes Center, Gentofte, Denmark
J Endocrinol Invest 25:1001-5. 2002
Suppressor of cytokine signaling 3 (SOCS-3) protects beta -cells against interleukin-1beta - and interferon-gamma -mediated toxicityA E Karlsen
Steno Diabetes Center, Niels Steensensvej 2, 2820 Gentofte, Denmark
Proc Natl Acad Sci U S A 98:12191-6. 2001....
NeuroD/BETA2 gene variability and diabetes: no associations to late-onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes. Danish Study Group of Diabetes in Childhood, and the Danish IDDM EpidemiologL Hansen
Steno Diabetes Center, Panum Institute, University of Copenhagen, Denmark
Diabetes 49:876-8. 2000..However, in the type 1 diabetic Danish population, the Ala45Thr variant of NeuroD/BETA2 may represent a susceptibility marker independent of IDDM7 on chromosome 2q32...
Identification of a type 1 diabetes-associated CD4 promoter haplotype with high constitutive activityO P Kristiansen
Steno Diabetes Center, Gentofte, Denmark
Scand J Immunol 59:582-91. 2004..Thus, we report functional impact of a novel CD4-181C/G SNP on stimulated CD4 promoter activity and the identification of a novel CD4 haplotype with high constitutive promoter activity that is linked and associated with T1DM...
Association of a microsatellite in FASL to type II diabetes and of the FAS-670G>A genotype to insulin resistanceR L Nolsøe
Steno Diabetes Center, Gentofte, Denmark
Genes Immun 7:316-21. 2006..02 and 0.02). We conclude that polymorphisms of FASL and FAS associate with type II diabetes and estimates of insulin resistance in Danish white subjects...
IRS1, KCNJ11, PPARgamma2 and HNF-1alpha: do amino acid polymorphisms in these candidate genes support a shared aetiology between type 1 and type 2 diabetes?A Johansen
Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Copenhagen, Denmark
Diabetes Obes Metab 8:75-82. 2006..The objective of this study was to estimate the impact of four selected amino acid polymorphisms -IRS-1 Gly972Arg, Kir6.2 Glu23Lys, HNF-1alpha Ala98Val and PPARgamma2 Pro12Ala in a Danish population of T1DM families...
Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) geneZ M Larsen
Steno Diabetes Centre, Gentofte, Denmark
Diabet Med 21:218-22. 2004..However, no evidence of linkage and association was observed for any of the analysed polymorphisms, suggesting that other variations must be responsible for the observed evidence of linkage in the region...
Mutation analysis of suppressor of cytokine signalling 3, a candidate gene in Type 1 diabetes and insulin sensitivityT Gylvin
Steno Diabetes Center, Niels Steensensvej 2 4, 2820, Gentofte, Denmark
Diabetologia 47:1273-7. 2004..The suppressor of cytokine signalling (SOCS)-3 is a natural inhibitor of cytokine signalling and also influences insulin signalling. SOCS3 could therefore be a candidate gene in the development of Type 1 and Type 2 diabetes mellitus...
Interferon-gamma induces interleukin-1 converting enzyme expression in pancreatic islets by an interferon regulatory factor-1-dependent mechanismA E Karlsen
Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Denmark
J Clin Endocrinol Metab 85:830-6. 2000....
Strain-dependent difference in inducible nitric oxide synthesis (iNOS) expression in rat pancreatic islets correlates with interferon regulating factor 1 (IRF-1) and heat shock protein 70 (HSP70) expressionJ Johannesen
Steno Diabetes Center, Niels Steensensvej 2, DK-2820 Gentofte, Denmark
Eur Cytokine Netw 12:501-9. 2001..Conclusion: There was a strain-dependent difference in iNOS expression which was associated with IRF-1 and HSP70 expression...
Functional promoter haplotypes of the human FAS gene are associated with the phenotype of SLE characterized by thrombocytopeniaR L Nolsøe
Steno Diabetes Center, Niels Steensensvej 2, DK 2820 Gentofte, Denmark
Genes Immun 6:699-706. 2005..We conclude that the FAS/FASL promoter haplotypes are functional and that polymorphisms in FAS may contribute to thrombocytopenia in SLE...
Complete mutation scan of the human Fas ligand gene: linkage studies in Type I diabetes mellitus familiesR L Nolsøe
Steno Diabetes Center, Niels Steensens Vej 2, DK 2820 Gentofte, Denmark
Diabetologia 45:134-9. 2002..We therefore evaluated the human FasL gene FASL on chromosome 1q23 as a candidate susceptibility gene for Type I diabetes...
Polymorphisms in the neurogenin 3 gene (NEUROG) and their relation to altered insulin secretion and diabetes in the Danish Caucasian populationJ N Jensen
Steno Diabetes Center, Copenhagen, Denmark
Diabetologia 44:123-6. 2001....
Changes in expression of IL-1 beta influenced proteins in transplanted islets during development of diabetes in diabetes-prone BB ratsT Sparre
Steno Diabetes Center, Gentofte, Denmark
Diabetologia 47:892-908. 2004..The aim of this study was to describe the relevance of these proteins in the development of diabetes in vivo...
Functional SOCS1 polymorphisms are associated with variation in obesity in whitesT Gylvin
Steno Diabetes Center, Gentofte, Denmark
Diabetes Obes Metab 11:196-203. 2009..The objective was to perform mutation analysis of SOCS1 and to test the identified variations for association to T2D-related quantitative traits, T2D or T1D...
No evidence of a functionally significant polymorphism of the BCL2 gene in Danish, Finnish and Basque type 1 diabetes familiesP E Heding
Steno Diabetes Center, Niels Steensensvej 2, 2820 Gentofte, Denmark
Genes Immun 2:398-400. 2001..In contrast to what was observed in Japanese diabetic/control individuals, we find no evidence for association of the BCL2 Ala43Thr polymorphism to T1DM in Danish, Finnish and Basque Type 1 diabetes families...
Identification of T1D susceptibility genes within the MHC region by combining protein interaction networks and SNP genotyping dataC Brorsson
Steno Diabetes Center, Gentofte, Denmark
Diabetes Obes Metab 11:60-6. 2009....
A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactionsJ Nerup
Steno Diabetes Center, Gentofte, Denmark
Am J Hum Genet 69:1301-13. 2001..Our data support both the existence of non-HLA genes of significance for T1DM and interaction between HLA and non-HLA loci in the determination of the T1DM phenotype...
Suppressor of cytokine signalling (SOCS)-3 protects beta cells against IL-1beta-mediated toxicity through inhibition of multiple nuclear factor-kappaB-regulated proapoptotic pathwaysA E Karlsen
Steno Diabetes Center, Niels Steensensvej 2, 2820 Gentofte, Denmark
Diabetologia 47:1998-2011. 2004..However, the mechanisms underlying SOCS-3 inhibition of IL-1beta signalling and prevention against apoptosis remain unknown...
Identification and characterization of secretagogin promoter activityK V Skovhus
Steno Diabetes Center, Gentofte, Denmark
Scand J Immunol 64:639-45. 2006..The promoter region was furthermore screened by direct sequencing, and 11 polymorphisms were identified. Genotyping in a large homogenous Type 1 diabetes (T1D) family collection did not reveal association with T1D...
No association of the IRS1 and PAX4 genes with type I diabetesR Bergholdt
Hagedorn Research Institute and Steno Diabetes Center, Niels Steensens Vej 1, Gentofte, Denmark
Genes Immun 10:S49-53. 2009....
Characterization of new polymorphisms in the 5' UTR of the human interleukin-1 receptor type 1 (IL1R1) gene: linkage to type 1 diabetes and correlation to IL-1RI plasma levelR Bergholdt
Steno Diabetes Center, DK 2820 Gentofte, Denmark
Genes Immun 1:495-500. 2000..04). In both diabetic and non-diabetic subjects, the wt/wt genotype correlated with the highest IL-1RI plasma level, whereas the plasma levels were lowest for the mt/mt genotype...
Proteome analysis--a novel approach to understand the pathogenesis of Type 1 diabetes mellitusA E Karlsen
Steno Diabetes Center, Niels Steensensvej 2, DK-2820 Gentofte, Denmark
Dis Markers 17:205-16. 2001..Combining the information obtained from this extended proteome approach, with that of genetic-, transcriptome- and candidate-gene approaches, we believe that it is possible to reach this goal...
Linkage of the human inducible nitric oxide synthase gene to type 1 diabetesJ Johannesen
Steno Diabetes Center, DK 2820 Gentofte, Denmark
J Clin Endocrinol Metab 86:2792-6. 2001..In conclusion, linkage of the human NOS2 gene to IDDM in a subset of patients supports a pathogenic role of nitric oxide in human IDDM...
IL-1beta induced protein changes in diabetes prone BB rat islets of Langerhans identified by proteome analysisT Sparre
Steno Diabetes Center, Gentofte, Denmark
Diabetologia 45:1550-61. 2002..CONCLUSION/INTERPRETATION: We demonstrate that proteome analysis is a powerful tool to identify proteins and pathways in BB-DP rat islets exposed to IL-1beta...
Transcriptional profiling of type 1 diabetes genes on chromosome 21 in a rat beta-cell line and human pancreatic isletsR Bergholdt
Steno Diabetes Center, Gentofte, Denmark
Genes Immun 8:232-8. 2007....
Post-translational protein modifications in type 1 diabetes: a role for the repair enzyme protein-L-isoaspartate (D-aspartate) O-methyltransferase?A M Wagner
Steno Diabetes Center, Niels Steensens Vej 2, Gentofte, 2820, Denmark
Diabetologia 50:676-81. 2007..The aim of this study was to assess the role of PIMT in the development of type 1 diabetes...
Anaesthesia-induced hyperglycaemia early in life is not predictive for development of diabetes in diabetes-prone BB ratsT Sparre
Steno Diabetes Center, Gentofte, Denmark
Acta Diabetol 42:95-8. 2005..0075 and 0.0324 and p-values at 0.56 and 0.23 respectively). We were not able to identify any association or correlation between the induced temporary hyperglycaemia in 30-day-old BB-DP rats and later development of diabetes...
A population-based survey of frequencies of self-reported spontaneous and induced abortions in Danish women with Type 1 diabetes mellitus. Danish IDDM Epidemiology and Genetics GroupT Lorenzen
Steno Diabetes Center, Gentofte, Denmark
Diabet Med 16:472-6. 1999..The aim of the present Danish population-based study of 33% of the Danish population was to describe the pattern of self-reported miscarriage and stillbirths from 1304 women with Type 1 DM...
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population. DIEGG and DSGD. Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of Diabetes in ChildhoodO P Kristiansen
Steno Diabetes Center, Gentofte, Denmark
Hum Mutat 14:67-70. 1999..82), to index cases (P(tdt) = 0.77), as well as to unaffected offspring (P(tdt) = 0.93). Hence, the NQO1 polymorphism is not likely to be an etiological mutation underlying the reported linkage of the 16q22-q24 region...
Characterization of a nuclear-factor-kappa B (NFkappaB) genetic marker in type 1 diabetes (T1DM) familiesT Gylvin
Steno Diabetes Center, Gentofte, Denmark
Genes Immun 3:430-2. 2002..In conclusion, we could not confirm the highly significant T1DM association of certain alleles of the NFKB1 marker previously reported...
Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having Type I diabetesA M Møller
Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Copenhagen, Denmark
Diabetologia 41:1528-31. 1998..Clinical awareness of family history of diabetes and mode of inheritance might help to identify and reclassify these diabetic subjects as MODY3 patients...
Genetic variation of the heparan sulfate proteoglycan gene (perlecan gene). Association with urinary albumin excretion in IDDM patientsP M Hansen
Steno Diabetes Center, Gentofte, Denmark
Diabetes 46:1658-9. 1997
Novel analytical methods applied to type 1 diabetes genome-scan dataFlemming Pociot
Steno Diabetes Center, Gentofte, Denmark
Am J Hum Genet 74:647-60. 2004..Furthermore, the approach outlined here permits combined analyses of genetic-marker data and information on environmental and clinical covariates...
Prophylactic insulin treatment of syngeneically transplanted pre-diabetic BB-DP ratsThomas Sparre
Steno Diabetes Center, Nis Steensensvej 2, DK-2820 Gentofte, Denmark
Autoimmunity 36:99-109. 2003....
Application of genomics and proteomics in Type 1 diabetes pathogenesis researchThomas Sparre
Steno Diabetes Center, Gentofte, Denmark
Expert Rev Mol Diagn 3:743-57. 2003..This review will describe the use of large-scale genomics and proteomics in studying the pathogenesis of Type 1 diabetes, and will discuss future directions of research in the field...
Type 1 database mellitus: an inflammatory disease of the isletRegine Bergholdt
Steno Diabetes Center, Gentofte, Denmark
Adv Exp Med Biol 552:129-53. 2004
Is mortalin a candidate gene for T1DM ?Jesper Johannesen
Steno Diabetes Center, Niels Steensens Vej, Gentofte, Denmark
Autoimmunity 37:423-30. 2004....
Integrative analysis for finding genes and networks involved in diabetes and other complex diseasesRegine Bergholdt
Steno Diabetes Center, Niels Steensensvej 2, DK 2820 Gentofte, Denmark
Genome Biol 8:R253. 2007..We propose this type of integrative analysis as a general method for the elucidation of genes and networks involved in diabetes and other complex diseases...
Type 1 diabetes risk analysis on dried blood spot samples from population-based newborns: design and feasibility of an unselected case-control studyStefanie Eising
Steno Diabetes Centre, Gentofte, Denmark
Paediatr Perinat Epidemiol 21:507-17. 2007..It combined genetic, immunological and demographic data to develop prediction algorithms. It also provided a resource for future studies in which new genetic markers can be included as they are identified...
Expression profiling of human genetic and protein interaction networks in type 1 diabetesRegine Bergholdt
Hagedorn Research Institute and Steno Diabetes Center, Gentofte, Denmark
PLoS ONE 4:e6250. 2009..To understand biological systems, integration of genetic and functional information is necessary, and the current study has used this approach to improve understanding of T1D and the underlying biological mechanisms...
Association of a functional 17beta-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in femalesOle P Kristiansen
Steno Diabetes Center, DK 2820 Gentofte, Denmark
Hum Mol Genet 12:1101-10. 2003..In conclusion, higher IL6 promoter activity may confer risk to T1DM in very young females. This excess risk is negated with increasing age, possibly by the increasing E(2) levels in puberty...
Different islet protein expression profiles during spontaneous diabetes development vs. allograft rejection in BB-DP ratsUlla Bjerre Christensen
Steno Diabetes Center, Niels Steensensvej 2, Gentofte, Denmark
Autoimmunity 39:315-21. 2006..Whether this reflects activation of distinct signalling pathways in islet cells is currently unknown and need to be further investigated...
CBLB variants in type 1 diabetes and their genetic interaction with CTLA4Regine Bergholdt
Steno Diabetes Center, Gentofte, Denmark
J Leukoc Biol 77:579-85. 2005....
Unraveling the pathogenesis of type 1 diabetes with proteomics: present and future directionsThomas Sparre
Steno Diabetes Center, DK-2820 Gentofte, Denmark
Mol Cell Proteomics 4:441-57. 2005..Rather the cumulative pattern of changes seems to be what favors a transition from dynamic stability in the unperturbed beta-cell to dynamic instability and eventually to beta-cell destruction...
Mutation scan of a type 1 diabetes candidate gene: the human interleukin-18 binding protein geneRuna L Nolsøe
Steno Diabetes Center, Gentofte, Denmark
Ann N Y Acad Sci 1005:332-9. 2003..However, none of these were frequent enough to permit association studies in T1DM and we conclude that IL18BP does not contribute to the overall genetic susceptibility to type 1 diabetes...
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)Trine W Boesgaard
Steno Diabetes Centre and Hagedorn Research Institute, Gentofte, Denmark
BMC Med Genet 11:42. 2010..Insulin gene (INS) mutations have recently been described as a common cause of permanent neonatal diabetes (PNDM) and a rare cause of diabetes diagnosed in childhood or adulthood...
Immune-mediated beta-cell destruction in vitro and in vivo-A pivotal role for galectin-3Allan E Karlsen
Steno Diabetes Center, Gentofte, Denmark
Biochem Biophys Res Commun 344:406-15. 2006..In summary, combined proteome-transcriptome-genome and functional analyses identify gal-3 as a candidate gene/protein in T1D susceptibility that may prove valuable in future intervention/prevention strategies...
A human phenome-interactome network of protein complexes implicated in genetic disordersKasper Lage
Center for Biological Sequence Analysis, BioCentrum DTU, Technical University of Denmark, Building 208, DK 2800 Lyngby, Denmark
Nat Biotechnol 25:309-16. 2007..Our publicly available draft of protein complexes associated with pathology comprises 506 complexes, which reveal functional relationships between disease-promoting genes that will inform future experimentation...
The Type 1 Diabetes Genetics ConsortiumStephen S Rich
Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
Ann N Y Acad Sci 1079:1-8. 2006..From these families, the T1DGC is establishing banks of DNA, serum, plasma, and cell lines, as well as useful databases. The T1DGC also sponsors training opportunities (bioinformatics) and technology transfer (HLA genotyping)...
OAS1 splice site polymorphism controlling antiviral enzyme activity influences susceptibility to type 1 diabetesL Leigh Field
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Diabetes 54:1588-91. 2005..0025). The results suggest that host genetic response to virus infection could influence susceptibility to type 1 diabetes...
No evidence of type 1 diabetes susceptibility genes in the region centromeric of the HLA complexStefan Johansson
Institute of Immunology, Rikshospitalet University Hospital, Oslo, Norway
Hum Immunol 64:951-9. 2003..In conclusion, our data argue against the presence of any strong genetic susceptibility factors for T1D in the region centromeric of the HLA complex...
PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traitsClaude Chelala
Genetics of Infectious and Autoimmune Diseases, INSERM U730, Institut Pasteur, 28 rue du Docteur Roux, 75724 Paris 15, France
Diabetes 56:522-6. 2007....
Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex familiesPatrick Concannon
Benaroya Research Institute, Seattle, Washington, USA
Diabetes 54:2995-3001. 2005..The results demonstrate some consistency emerging for the existence of susceptibility loci on chromosomes 2q31-q33, 6q21, 10p14-q11, and 16q22-q24 but diminished support for some previously reported locations...
Crohn's disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetesPegah Ghandil
Genetics of Infectious and Autoimmune Diseases, INSERM U730, Institut Pasteur, Paris, France
Mol Genet Metab 86:379-83. 2005....
The relevance of international consortia in studies on the pathogenesis of type 1 diabetes: the role of ET1DGNFlemming Pociot
Steno Diabetes Center, Gentofte Denmark and Department of Clinical Sciences, University of Lund, Malmo, Sweden
Diabetes Metab Res Rev 22:238-40. 2006..ET1DGN suggests going beyond the tasks of T1DGC and establishing a well-organized network for additional and future studies in Europe...
Association analysis in type 1 diabetes of the PRSS16 gene encoding a thymus-specific serine proteaseBenedicte A Lie
Institute of Immunology, Rikshospitalet Radiumhospitalet Medical Center, and Institute of Medical Genetics, University of Oslo, Norway
Hum Immunol 68:592-8. 2007..Our data suggest that it is unlikely that polymorphisms within the PRSS16 gene are involved in the predisposition to T1D. However, we cannot rule out that regulatory polymorphisms located some distance away from the gene may be involved...
