Research Topics
Genomes and Genes
| Jochen HampeSummaryAffiliation: University of Kiel Country: Germany Publications
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Detail Information
Publications
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1Jochen Hampe
Institute for Clinical Molecular Biology, Christian Albrechts University Kiel, University Hospital Schleswig Holstein, 24105 Kiel, Germany
Nat Genet 39:207-11. 2007..039). Together with the lack of association between rs2241880 and ulcerative colitis (P > 0.4), these data suggest that the underlying biological process may be specific to Crohn disease...
Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencingStefan Taudien
Leibniz Institute for Age Research Fritz Lipmann Institute, Jena, Germany
BMC Genomics 12:243. 2011..g. by the 1000 Genomes Project is confined by an affordable sequence depth. Combining target enrichment with NGS may represent a feasible approach...- Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencingStefan Taudien
Leibniz Institute for Age Research Fritz Lipmann Institute, Jena, Germany
BMC Genomics 11:252. 2010..Here, we demonstrate that amplicon sequencing of pooled individual PCR products by the 454 technology allows in-depth determination of MSV haplotypes and estimation of DEFB CNs in parallel... - Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancerNikolaus Möckelmann
Department of General Internal Medicine Christian Albrechts University, Kiel, Germany
BMC Gastroenterol 9:79. 2009.... - TassDB2 - A comprehensive database of subtle alternative splicing eventsRileen Sinha
Albert Ludwigs University Freiburg, Germany
BMC Bioinformatics 11:216. 2010..Towards this goal we recently set up TassDB (Tandem Splice Site DataBase, version 1), which stores data about alternative splicing events at tandem splice sites separated by 3 nt in eight species... - Systematic association mapping identifies NELL1 as a novel IBD disease geneAndre Franke
Institute for Clinical Molecular Biology, Christian Albrechts University Kiel, Kiel, Germany
PLoS ONE 2:e691. 2007..Several associations were replicated in at least one independent sample, point to an involvement of ITGB6 (upstream), GRM8 (downstream), OR5V1 (downstream), PPP3R2 (downstream), NM_152575 (upstream) and HNF4G (intron)... 
Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2Andre Franke
Institute for Clinical Molecular Biology, Christian Albrechts University, Kiel, Germany
Gastroenterology 135:1207-15. 2008..Crohn's disease (CD) and sarcoidosis (SA) are chronic inflammatory barrier diseases that share several clinical and immunological features, including the occurrence of granulomas...- A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiologyKatherine L Helbig
Institute for Experimental Medicine, Section of Epidemiology, Christian Albrechts University of Kiel, Arnold Heller Strasse 3, Haus 3, 24105 Kiel, Germany
BMC Med Genet 13:14. 2012..However, little is known about a potential interaction between these risk factors. We investigated gene-environment interactions between CD-associated NOD2 alleles and cigarette smoking in a large sample of patients with CD... - Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populationsValentina Medici
Department of General and Internal Medicine, Institute for Clinical Molecular Biology, Christian Albrechts University, Schittenhelmstrasse 12, Kiel 24105, Germany
Eur J Hum Genet 14:459-68. 2006..035). The present results are consistent with an emerging pattern of a low frequency of the CARD15 variants in Northern countries where the prevalence of IBD is greatest... - Systematic evaluation of the effect of common SNPs on pre-mRNA splicingAbdou ElSharawy
Institute of Clinical Molecular Biology, University Hospital Schleswig Holstein, Kiel, Germany
Hum Mutat 30:625-32. 2009..The results highlight the need for a better understanding of the sequence characteristics of functional splice-sites to improve our ability to predict in silico the splicing relevance of empirically observed DNA sequence variants... - Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone diseaseClemens Schafmayer
Department of General Surgery and Thoracic Surgery, Christian Albrechts University Kiel, Kiel, Germany
Liver Int 27:910-9. 2007..Two attractive positional and functional candidate genes in apolipoprotein B mRNA-editing protein (APOBEC1) and peroxisome proliferator-activated receptor gamma (PPARG) are located in this interval... - Dissection of the inflammatory bowel disease transcriptome using genome-wide cDNA microarraysChristine M Costello
Institute for Clinical Molecular Biology, University Hospital Schleswig Holstein, Christian-Albrechts University of Kiel, Kiel, Germany
PLoS Med 2:e199. 2005..The multiple unknown genes identified may stimulate new research in the fields of barrier mechanisms and cell signalling in the context of IBD, and ultimately new therapeutic approaches... - A short isoform of NOD2/CARD15, NOD2-S, is an endogenous inhibitor of NOD2/receptor-interacting protein kinase 2-induced signaling pathwaysPhilip Rosenstiel
Institute of Clinical Molecular Biology, University Hospital Schleswig Holstein, Kiel, Germany
Proc Natl Acad Sci U S A 103:3280-5. 2006..These data unveil another level of complexicity in the regulation of intracellular innate immunity and may have important implications for the molecular understanding of NOD/NALP protein-driven disease pathophysiology... - Genome-wide investigation of gene-environment interactions in colorectal cancerSabine Siegert
Section of Epidemiology, Institute of Experimental Medicine, Christian Albrechts University Kiel, Kiel, Germany
Hum Genet 132:219-31. 2013..008). Notably, none of the interactions identified in our genome-wide analysis was with a previously reported CRC-associated SNP. Our study therefore highlights the potential of an "agnostic" genome-wide approach to G × E analysis... - Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expressionPhilip Rosenstiel
Institute of Clinical Molecular Biology, University Hospital Schleswig Holstein, Campus Kiel, Germany
BMC Genomics 8:472. 2007..Tissue specific constitutive and inducible expression patterns of NOD2 have been described that result from complex regulatory events for which the molecular mechanisms are not yet fully understood... - Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivitySarah von Spiczak
Department of Neuropediatrics, University Hospital Schleswig Holstein, Campus Kiel, Arnold Heller Str 3, Building 9, Kiel, Germany
Neuromolecular Med 12:292-9. 2010..Our results showed a trend toward association of TRPC4 variants and PPR/IGE. Further studies including larger samples of photosensitive probands are required to clarify the relevance of TRPC4 for PPR and IGE... - Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sampleClemens Schafmayer
Department of General and Thoracic Surgery, University Hospital Schleswig Holstein, Kiel, Germany
Int J Cancer 124:75-80. 2009..71). Our study confirms the role of genetic variation at 8q24.21 as a risk factor for CRC and localizes the corresponding susceptibility gene to a 17 kb candidate region... - Genetic variation in DLG5 is associated with inflammatory bowel diseaseMonika Stoll
First Department of Medicine, University Hospital Schleswig Holstein, Schittenhelmstr 12, 24105 Kiel, Germany
Nat Genet 36:476-80. 2004..This is suggestive of a complex pattern of gene-gene interaction between DLG5 and CARD15, reflecting the complex nature of polygenic diseases. Further functional studies will evaluate the biological significance of DLG5 variants... - Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and compositionStephan Buch
Department of Internal Medicine I, University Hospital Schleswig Holstein, Kiel, Germany
Gastroenterology 139:1942-1951.e2. 2010..Bilirubin is a major component of gallstones so we investigated whether these variants predict gallstone bilirubin content and overall risk for gallstones... - Anti-TNF-α antibodies improve intestinal barrier function in Crohn's diseaseRainer Noth
Department of Internal Medicine, University Hospital Schleswig Holstein, Campus Kiel, Germany
J Crohns Colitis 6:464-9. 2012..The aim of the present study was to investigate the influence of anti-TNF-α antibody (infliximab) treatment on the intestinal barrier function of patients with active Crohn's disease... - Increased intestinal permeability and tight junction disruption by altered expression and localization of occludin in a murine graft versus host disease modelRainer Noth
Department of Internal Medicine, University Hospital Schleswig Holstein, Campus Kiel, 24105 Kiel, Germany
BMC Gastroenterol 11:109. 2011..Because surveillance and biopsies of human gastrointestinal GvHD are difficult to perform, rare information of the alterations of the gastrointestinal barrier exists resulting in a need for systematic animal models... - Sirtuin 1 (SIRT1) sequence variation is not associated with exceptional human longevityFriederike Flachsbart
Institute for Clinical Molecular Biology, University Hospital Schleswig Holstein, 24105 Kiel, Germany
Exp Gerontol 41:98-102. 2006..However, this does not rule out the possibility that allelic variants in direct regulators or downstream substrates of SIRT1 could play critical roles in extending lifespan in humans... - Sarcoidosis is associated with a truncating splice site mutation in BTNL2Ruta Valentonyte
Institute for Clinical Molecular Biology, Christian Albrechts University Kiel, Universitatsklinikum Schleswig Holstein, Campus Kiel, Schittenhelmstr 12, 24105 Kiel, Germany
Nat Genet 37:357-64. 2005..The resulting protein lacks the C-terminal IgC domain and transmembrane helix, thereby disrupting the membrane localization of the protein, as shown in experiments using green fluorescent protein and V5 fusion proteins... - Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprintingClaudia Fritsch
Department of Internal Medicine I, University Hospital Schleswig Holstein, 24105 Kiel, Germany
Genome Res 22:2208-18. 2012..The transcriptome-wide map of novel candidate TISs derived as part of the study will shed further light on the way in which human proteome diversity is influenced by alternative translation initiation and regulation... - Detection of diverse bacterial signatures in atherosclerotic lesions of patients with coronary heart diseaseStephan J Ott
Institute for Clinical Molecular Biology, Department of General Internal Medicine, UKSH Campus Kiel, Kiel, Germany
Circulation 113:929-37. 2006..However, bacterial agents could have secondarily colonized atheromatous lesions and could act as an additional factor accelerating disease progression... - A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone diseaseStephan Buch
First Department of Medicine, University Hospital Schleswig Holstein, 24105 Kiel, Germany
Nat Genet 39:995-9. 2007..6, P = 1.4 x 10(-14)) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile... - Influence of IL-1 gene cluster polymorphisms on the development of H. pylori associated gastric ulcerStephan Hellmig
Department of General Internal Medicine, University Clinics of Schleswig Holstein, Campus Kiel, Schittenhelmstrasse 12, 24105 Kiel, Germany
Immunol Lett 100:107-12. 2005..pylori infection. Thus, we investigated the influence of functional genetic variants in the IL-1 gene cluster on the development of gastric ulcer disease... - Distinct DNA methylation patterns in cirrhotic liver and hepatocellular carcinomaOle Ammerpohl
Institute of Human Genetics, University Hospital Schleswig Holstein, Campus Kiel, Christian Albrechts University, Kiel, Germany
Int J Cancer 130:1319-28. 2012..0001). Cirrhosis and HCC show distinct patterns of differential methylation with regards to promoter structure, PRC2 targets and CpG islands... - Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysisHiltrud Muhle
Department of Neuropediatrics, University Hospital of Kiel, Schwanenweg 20, 24105 Kiel, Germany
Epilepsy Res 89:319-26. 2010..3 where tentative susceptibility loci for Juvenile Myoclonic Epilepsy (JME) and Photoparoxysmal Response (PPR) have been mapped. The present candidate gene study examined if variation in GRM4 confers susceptibility to IGE... - Life-threatening chronic enteritis due to colonization of the small bowel with Stenotrophomonas maltophiliaStephan Hellmig
Department of General Internal Medicine, Christian Albrechts University, University Hospital Schleswig Holstein, Kiel, Germany
Gastroenterology 129:706-12. 2005..Future enhancements in detection techniques will show that chronic bacterial infections are more frequent as a cause of gastrointestinal malfunction than commonly thought... - Technology-specific error signatures in the 1000 Genomes Project dataMichael Nothnagel
Institute of Medical Informatics and Statistics, Christian Albrechts University, Brunswiker Str 10, 24105 Kiel, Germany
Hum Genet 130:505-16. 2011..Our study thus highlights that different NGS platforms suit different practical applications differently well, and that NGS-based studies require stringent data quality control for their results to be valid... - Genetics of Crohn disease, an archetypal inflammatory barrier diseaseStefan Schreiber
Institute for Clinical Molecular Biology, Center for Conservative Medicine, Christian Albrechts University Kiel, Schittenhelmstr 12, 24105 Kiel, Germany
Nat Rev Genet 6:376-88. 2005..These will probably target the molecular interaction on the mucosal surface between the products of the genome and the microbial metagenome of a patient... - Association of inflammatory bowel disease with indicators for childhood antigen and infection exposureJochen Hampe
First Department of Medicine, Christian Albrecht University, Schittenhelmstrasse 12, 24105 Kiel, Germany
Int J Colorectal Dis 18:413-7. 2003..Future studies need to address the interaction of known genetic variations (e.g., in the NOD2 gene) with environmental factors potentially mediating this effect... - Patterns of linkage disequilibrium in the MHC region on human chromosome 6pAnnette Stenzel
, , , 24105 Kiel, Germany
Hum Genet 114:377-85. 2004..The existence of large regions without any clear block structure renders the systematic and thorough construction of SNP haplotype maps a crucial prerequisite for disease-association studies... - Chronic portal vein thrombosis: transcapsular hepatic collateral vessels and communicating ectopic varicesMarcus Seeger
Department of Internal Medicine I, University Hospital Schleswig Holstein, Campus Kiel, 24105 Kiel, Germany
Radiology 257:568-78. 2010..To assess patients with chronic portal vein thrombosis (PVT) with respect to transcapsular collateral veins, the communication between these veins and ectopic varices, and the cause of PVT... - Investigation of HLA-DPA1 genotypes as predictors of inflammatory bowel disease in the German, South African, and South Korean populationsAnnette Lantermann
Department of General Internal Medicine, Christian Albrechts University, Schittenhelmstrasse 12, 24105 Kiel, Germany
Int J Colorectal Dis 17:238-44. 2002..The HLA-DP genes play an important role in antigen presentation and are located within the chromosome 6p linkage region... - Terminal part of thoracic duct: high-resolution US imagingMarcus Seeger
Department of General Internal Medicine, University Hospital Schleswig Holstein, Campus Kiel, Schittenhelmstrasse 12, 24105 Kiel, Germany
Radiology 252:897-904. 2009.... - Entropy-based SNP selection for genetic association studiesJochen Hampe
Klinik für Allgemeine Innere Medizin, Christian Albrechts Universitat Kiel, Schittenhelmstrasse 12, 24105 Kiel, Germany
Hum Genet 114:36-43. 2003..Adoption of the method in practice is estimated to save up to 30% of genotyping load when compared with equidistant SNP localization or pair-wise LD minimization alone... - Quantification of intestinal bacterial populations by real-time PCR with a universal primer set and minor groove binder probes: a global approach to the enteric floraStephan J Ott
Department of General Internal Medicine, University Hospital Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany
J Clin Microbiol 42:2566-72. 2004..No significant cross-reaction was observed. The real-time PCR assays presented may facilitate understanding of the intestinal bacterial flora through a normalized global estimation of the major contributing species... - Mutation detection and physical mapping of the CD11 gene cluster in association with inflammatory bowel diseaseHenning Frenzel
Department of Internal Medicine I, University Hospital, Christian-Albrechts-University, Schittenhelmstrasse 12, 24105 Kiel, Germany
Immunogenetics 53:835-42. 2002..It is unlikely that the CD11 genes play an important role in the pathogenesis of IBD. The marginally significant results could indicate a disease gene in the vicinity of the gene cluster... - Predictors of gallstone composition in 1025 symptomatic gallstones from Northern GermanyClemens Schafmayer
Department of General and Thoracic Surgery, University Hospital Schleswig Holstein, Campus Kiel, Arnold Heller Str 7, D 24105 Kiel, Germany
BMC Gastroenterol 6:36. 2006..This study aimed to define patterns of gallstone composition and identify demographic predictors of gallstone composition in a large sample of symptomatic gallstones from Northern Germany...