Michael Krawczak

Summary

Affiliation: University of Kiel
Country: Germany

Publications

  1. ncbi request reprint Sarcoidosis is associated with a truncating splice site mutation in BTNL2
    Ruta 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
  2. ncbi request reprint Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat, Kiel, Germany
    Hum Mutat 28:150-8. 2007
  3. pmc Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer
    Nikolaus Möckelmann
    Department of General Internal Medicine Christian Albrechts University, Kiel, Germany
    BMC Gastroenterol 9:79. 2009
  4. pmc 'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care
    Angus J Clarke
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales CF14 4XN, UK
    Hum Genomics 6:11. 2012
  5. pmc Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis
    Stefan Taudien
    Genome Analysis, Leibniz Institute for Age Research Fritz Lipmann Institute, Beutenbergstr 11, D 07745, Jena, Germany
    BMC Res Notes 5:629. 2012
  6. pmc How obedience of marriage rules may counteract genetic drift
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat zu Kiel, Brunswiker Straße 10, 24105, Kiel, Germany
    J Community Genet 1:23-8. 2010
  7. pmc A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    BMC Med Genet 11:41. 2010
  8. pmc Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany
    Clemens 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
  9. pmc Chromosomal evolution of the PKD1 gene family in primates
    Stefan Kirsch
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Breisacher Str, 33, 79106 Freiburg, Germany
    BMC Evol Biol 8:263. 2008
  10. ncbi request reprint PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
    Michael Krawczak
    Institute of Medical Informatics and Statistics, Christian Albrechts University, Kiel, Germany
    Community Genet 9:55-61. 2006

Detail Information

Publications101 found, 100 shown here

  1. ncbi request reprint Sarcoidosis is associated with a truncating splice site mutation in BTNL2
    Ruta 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...
  2. ncbi request reprint Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat, Kiel, Germany
    Hum Mutat 28:150-8. 2007
    ..6% of disease-causing missense substitutions in human genes are likely to affect the mRNA splicing phenotype. Taken together, our results are consistent with correct donor splice-site recognition being a key step in exon recognition...
  3. pmc Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer
    Nikolaus Möckelmann
    Department of General Internal Medicine Christian Albrechts University, Kiel, Germany
    BMC Gastroenterol 9:79. 2009
    ....
  4. pmc 'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care
    Angus J Clarke
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales CF14 4XN, UK
    Hum Genomics 6:11. 2012
    ....
  5. pmc Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis
    Stefan Taudien
    Genome Analysis, Leibniz Institute for Age Research Fritz Lipmann Institute, Beutenbergstr 11, D 07745, Jena, Germany
    BMC Res Notes 5:629. 2012
    ..In a case-control study, we investigated the association between MSV in DEFB104 as well as defensin gene (DEF) cluster copy number (CN), and pancreatic ductal adenocarcinoma (PDAC) and chronic pancreatitis (CP)...
  6. pmc How obedience of marriage rules may counteract genetic drift
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat zu Kiel, Brunswiker Straße 10, 24105, Kiel, Germany
    J Community Genet 1:23-8. 2010
    ..We therefore conclude that the possible preservation of gene diversity through marriage rule-induced inbreeding is a by-product, not the source, of a cultural invention that instead rested on foresight and strategic thinking...
  7. pmc A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level
    Cristian Pattaro
    Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
    BMC Med Genet 11:41. 2010
    ..A substantial proportion of the inter-individual variability in S CR level is explicable by genetic factors...
  8. pmc Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany
    Clemens 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...
  9. pmc Chromosomal evolution of the PKD1 gene family in primates
    Stefan Kirsch
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Breisacher Str, 33, 79106 Freiburg, Germany
    BMC Evol Biol 8:263. 2008
    ..To address this question we applied comparative FISH-mapping of a human PKD1-containing genomic BAC clone and a PKD1-cDNA clone to chromosomes of a variety of primate species and the dog as a non-primate outgroup species...
  10. ncbi request reprint PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
    Michael Krawczak
    Institute of Medical Informatics and Statistics, Christian Albrechts University, Kiel, Germany
    Community Genet 9:55-61. 2006
    ..On the other hand, most ongoing prospective studies are probably too small for evaluating polygenic disease markers...
  11. pmc Is the NIH policy for sharing GWAS data running the risk of being counterproductive?
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat zu Kiel, Arnold Heller Straße 3, Haus 31, 2105 Kiel, Germany
    Investig Genet 1:3. 2010
    ..Because this policy could adversely affect future transnational scientific collaborations, we explore some of its likely consequences and suggest possible courses of remedial action wherever feasible...
  12. doi request reprint Kinship testing with X-chromosomal markers: mathematical and statistical issues
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat Kiel, Brunswiker Strasse 10, 24113 Kiel, Germany
    Forensic Sci Int Genet 1:111-4. 2007
    ..The required genetic maps can be created using physical location information available in public databases...
  13. doi request reprint On the testing load incurred by cascade genetic carrier screening for Mendelian disorders: a brief report
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat, Kiel, Germany
    Genet Test 11:417-9. 2007
    ..e., 1%-5%), a substantial proportion of the population would have to be tested if all known single gene disorders were to be included in a cascade screening program...
  14. ncbi request reprint Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations
    Peter J P Croucher
    1st Department of Medicine, Christian Albrechts University, Kiel, Germany
    Eur J Hum Genet 11:6-16. 2003
    ..This approach, in conjunction with the examination of the mutational steps in a haplotype network, allows unambiguous identification of the potentially causative mutations...
  15. pmc Systematic association mapping identifies NELL1 as a novel IBD disease gene
    Andre 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)...
  16. doi request reprint Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL)
    Andre Franke
    Institute for Clinical Molecular Biology, University Hospital Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Nat Genet 42:292-4. 2010
    ..81 x 10(-11) and P(rs5771069) = 4.21 x 10(-8), respectively)...
  17. doi request reprint Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus
    Oliver von Kampen
    Department of Internal Medicine I, Hospital Schleswig Holstein, Kiel, Germany
    Hepatology 57:2407-17. 2013
    ..hepatology 2012)...
  18. ncbi request reprint GENOMIZER: an integrated analysis system for genome-wide association data
    Andre Franke
    Institute of Clinical Molecular Biology, Kiel Center of the German National Genotyping Platform, Christian Albrechts University, Kiel, Germany
    Hum Mutat 27:583-8. 2006
    ..We suggest that the use of this software will facilitate the handling and interpretation of the currently emerging genome-wide association data...
  19. doi request reprint Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2
    Andre 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...
  20. doi request reprint A comprehensive evaluation of SNP genotype imputation
    Michael Nothnagel
    Institute of Medical Informatics and Statistics, Christian Albrechts University, Kiel, Germany
    Hum Genet 125:163-71. 2009
    ..We nevertheless recommend either MACH or BEAGLE for practical use because these two programs are more user-friendly and generally require less memory than IMPUTE...
  21. ncbi request reprint A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals
    Almut Nebel
    Institute of Clinical Molecular Biology, Christian Albrechts University, Kiel, Germany
    Mech Ageing Dev 132:324-30. 2011
    ..A recent GWAS in Dutch LLI independently confirmed the APOE-longevity association, thus strengthening the conclusion that this locus is a very, if not the most, important genetic factor influencing longevity...
  22. ncbi request reprint Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study
    Jochen Hampe
    Department of General Internal Medicine, Christian Albrechts University, Kiel, Germany
    Lancet 359:1661-5. 2002
    ..Crohn's disease is a heterogeneous disorder for which NOD2 (CARD 15) has been identified as a susceptibility gene. We investigate the relation between NOD2 genotype and phenotypic characteristics of patients with Crohn's disease...
  23. doi request reprint Systematic evaluation of the effect of common SNPs on pre-mRNA splicing
    Abdou 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...
  24. doi request reprint Recurrence of gallstones after cholecystectomy is associated with ABCG5/8 genotype
    Witigo von Schönfels
    Department of General and Thoracic Surgery, University Hospital Schleswig Holstein, Christian Albrechts University, Arnold Heller Str 6, 24105, Kiel, Germany
    J Gastroenterol 48:391-6. 2013
    ..As yet, variant ABCG8-D19H is the most widely recognized genetic risk factor for gallstone disease. The aim of the study is to investigate whether ABCG8-D19H is associated with gallstone recurrence after cholecystectomy...
  25. ncbi request reprint Patterns of linkage disequilibrium in the MHC region on human chromosome 6p
    Annette Stenzel
    Abteilung für Allgemeine Innere Medizin, Universitatsklinikum Schleswig Holstein, Christian Albrechts Universitat Kiel, 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...
  26. doi request reprint Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample
    Clemens 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...
  27. doi request reprint Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis
    Sylvia Hofmann
    Institute of Clinical Molecular Biology, Christian Albrechts University, Kiel D 24105, Germany
    Nat Genet 40:1103-6. 2008
    ..Annexin A11 has complex and essential functions in several biological pathways, including apoptosis and proliferation...
  28. doi request reprint Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans
    Michael Nothnagel
    Institute of Medical Informatics and Statistics, Christian Albrechts University, 24105 Kiel, Germany
    Hum Mol Genet 19:2927-35. 2010
    ..As a consequence, the planning, design and interpretation of ROH-based genetic studies must take sample origin into account in order for such studies to be sensible and valid...
  29. doi request reprint Genome-wide investigation of gene-environment interactions in colorectal cancer
    Sabine 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...
  30. doi request reprint A functional EXO1 promoter variant is associated with prolonged life expectancy in centenarians
    Almut Nebel
    Institute of Clinical Molecular Biology, the Christian Albrechts University, Kiel, Germany
    Mech Ageing Dev 130:691-9. 2009
    ..Given the survival advantage that is associated with the C allele of rs1776180, EXO1 can be considered a candidate for a novel longevity-enabling gene...
  31. pmc Diagnosing fatty liver disease: a comparative evaluation of metabolic markers, phenotypes, genotypes and established biomarkers
    Sabine Siegert
    Cologne Center for Genomics, University of Cologne, Cologne, Germany Institute of Experimental Medicine, Section of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany Institute of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany
    PLoS ONE 8:e76813. 2013
    ..To date, liver biopsy is the only means of reliable diagnosis for fatty liver disease (FLD). Owing to the inevitable biopsy-associated health risks, however, the development of valid noninvasive diagnostic tools for FLD is well warranted...
  32. pmc Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B
    Friederike Flachsbart
    Institute of Clinical Molecular Biology, Christian Albrechts University, Schittenhelmstrasse 12, Kiel, Germany
    Eur J Hum Genet 21:240-2. 2013
    ..Our experimental set-up can be used for reliable and reproducible data generation for further sequencing and genotyping studies of FOXO3A with the aim of discovering new SNPs of functional relevance...
  33. doi request reprint Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis
    Andre Franke
    Institute for Clinical Molecular Biology, Christian Albrechts University, D 24105 Kiel, Germany
    Nat Genet 40:713-5. 2008
    ..Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection...
  34. doi request reprint Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility
    Andre Franke
    Institute for Clinical Molecular Biology, Christian Albrechts University, Kiel 24105, Germany
    Nat Genet 40:1319-23. 2008
    ..17 (1.01-1.34)). IL10 is an immunosuppressive cytokine that has long been proposed to influence IBD pathophysiology. Our findings strongly suggest that defective IL10 function is central to the pathogenesis of the UC subtype of IBD...
  35. ncbi request reprint Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone disease
    Clemens 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...
  36. pmc Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p
    Jochen Hampe
    Department of General Internal Medicine, Christian Albrechts University, 24118 Kiel, Germany
    Proc Natl Acad Sci U S A 99:321-6. 2002
    ..00027, IBD phenotype). On stratification based on NOD2 genotype, this significance increased to P = 0.0001. These results confirm the importance of NOD2 and provide evidence for a second IBD gene located on chromosome 16p...
  37. pmc Pipeline for large-scale microdroplet bisulfite PCR-based sequencing allows the tracking of hepitype evolution in tumors
    Alexander Herrmann
    Institute of Internal Medicine I, Christian Albrechts University, Kiel, Germany
    PLoS ONE 6:e21332. 2011
    ....
  38. pmc An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population
    Timothy Tehua Lu
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat Kiel, Kiel, Germany
    Eur J Hum Genet 17:967-75. 2009
    ..This leads us to conclude that, at least in Europe, the utility of the genetic-matched pair study design depends critically on the availability of comprehensive genotype information for both cases and controls...
  39. doi request reprint Technology-specific error signatures in the 1000 Genomes Project data
    Michael 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...
  40. doi request reprint Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition
    Stephan 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...
  41. ncbi request reprint Higher fetuin-A level is associated with coexistence of elevated alanine aminotransferase and the metabolic syndrome in the general population
    Manja Koch
    1 Institute of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany
    Metab Syndr Relat Disord 11:377-84. 2013
    ..Thus, aim of the study was to investigate the association between fetuin-A level and the coexistence of elevated ALT levels and metabolic syndrome (ALT-MetS)...
  42. ncbi request reprint Forensic interpretation of Y-chromosomal DNA mixtures
    Andreas Wolf
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat, Brunswiker Strasse 10, 24105 Kiel, Germany
    Forensic Sci Int 152:209-13. 2005
    ..66 with four additional contributors. It must be emphasised that these estimates of the discriminatory power of Y-STRs are likely to be conservative since the simulations involved only haplotypes known to occur in YHRD...
  43. doi request reprint Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome
    Michael Nothnagel
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat Kiel, Brunswiker Straße 10, 24105 Kiel, Germany
    Forensic Sci Int Genet 6:778-84. 2012
    ..Evidence was also found for recombination within all four linkage groups, with recombination fraction estimates ranging as high as 2% in the case of DXS10146 and DXS10134...
  44. doi request reprint Statistical inference of allelic imbalance from transcriptome data
    Michael Nothnagel
    Institute of Medical Informatics and Statistics, Christian Albrechts University, Kiel, Germany
    Hum Mutat 32:98-106. 2011
    ..Because the proposed framework can be used to assess somatic mutations and allelic imbalance in one and the same set of RNA-seq data, it will be particularly useful for the analysis of somatic genetic variation in cancer studies...
  45. doi request reprint Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci
    Michael Nothnagel
    Institute of Medical Informatics and Statistics, Christian Albrechts University, Campus Kiel, House 31, Arnold Heller Str 3, 24105, Kiel, Germany
    Int J Legal Med 124:205-15. 2010
    ..We show by simulation that this requirement may be ignored when discriminating distant hypotheses about kinship, but that linkage may play an important role in the biostatistical analysis of more intricate cases...
  46. doi request reprint Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease
    Andreas Wolf
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat zu Kiel, Kiel, Germany
    Hum Mutat 32:1137-43. 2011
    ..Finally, contrary to our initial expectation, the match between the original TIC and the Kozak consensus sequence was significantly better (rather than worse) for genes harboring TIC mutations than for the HGMD control genes...
  47. ncbi request reprint Adjustment for smoking does not alter the FOXO3A association with longevity
    Carolin Däumer
    Institute of Medical Informatics and Statistics, Christian Albrechts University, Brunswiker Straße 10, 24105, Kiel, Germany
    Age (Dordr) 36:911-21. 2014
    ..Our analysis therefore suggests that the said association is not largely due to the confounding effects of lung cancer. ..
  48. pmc Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies
    David Ellinghaus
    Institute of Clinical Molecular Biology, Christian Albrechts University of Kiel, Kiel, Germany
    Gastroenterology 145:339-47. 2013
    ..We aimed to identify variants that cause CD through detailed sequencing, genetic association, expression, and functional studies...
  49. pmc Empirical evaluation reveals best fit of a logistic mutation model for human Y-chromosomal microsatellites
    Arne Jochens
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat zu Kiel, 24105 Kiel, Germany
    Genetics 189:1403-11. 2011
    ..This is the first study to empirically compare different microsatellite mutation models in a locus-specific fashion...
  50. doi request reprint A Markov chain description of the stepwise mutation model: local and global behaviour of the allele process
    Amke Caliebe
    Institut für Medizinische Informatik und Statistik, Haus 31, Christian Albrechts Universitat Kiel, Arnold Heller Str 3, 24105 Kiel, Germany
    J Theor Biol 266:336-42. 2010
    ..We show that the marginal stationary distribution is unimodal. The standard and normalised processes capture the global and the local behaviour of the SMM, respectively...
  51. pmc Heritability of chronic venous disease
    Andreas Fiebig
    Institute for Clinical Molecular Biology, Christian Albrechts University, Schittenhelmstr 12, 24105 Kiel, Germany
    Hum Genet 127:669-74. 2010
    ..7% (Kullback-Leibler deviance R2). The heritability of CVD is high, thereby suggesting a notable genetic component in the aetiology of the disease. Systematic population-based searches for CVD susceptibility genes are therefore warranted...
  52. ncbi request reprint Entropy-based SNP selection for genetic association studies
    Jochen 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...
  53. ncbi request reprint Comparative assessment of the association information captured by SNP tagging
    Michael Nothnagel
    Institute of Medical Informatics and Statistics, University Hospital Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Hum Hered 64:27-34. 2007
    ..In any case, we conclude that a considerable loss of information appears to be inherent to any type of SNP tagging, even when dense marker sets are available for SNP selection...
  54. ncbi request reprint A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
    Jochen 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...
  55. ncbi request reprint Male reproductive timing in Rhesus macaques is influenced by the 5HTTLPR promoter polymorphism of the serotonin transporter gene
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat, 24105 Kiel, Germany
    Biol Reprod 72:1109-13. 2005
    ....
  56. doi request reprint A gene conversion hotspot in the human growth hormone (GH1) gene promoter
    Andreas Wolf
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat Kiel, Kiel, Germany
    Hum Mutat 30:239-47. 2009
    ..0%) as compared to chimpanzee (93.5%) and human (94.0%), and hence provides further support for the idea of a threshold (perhaps around 92%) below which gene conversion is reduced or abolished...
  57. doi request reprint Molecular genetic epidemiology of human diseases: from patterns to predictions
    Carolin Knecht
    Institute of Medical Informatics and Statistics, Christian Albrechts University of Kiel, Brunswiker Strasse 10, 24105, Kiel, Germany
    Hum Genet 133:425-30. 2014
    ..After a brief resume of the past scientific utility of HGMD, we, therefore, shortly review three representative and commonly used examples of these tools, namely SIFT, PolyPhen-2 and NNSplice. ..
  58. ncbi request reprint How to distinguish genetically between an alleged father and his monozygotic twin: A thought experiment
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat zu Kiel, Arnold Heller Strasse 3, Haus 31, 24105 Kiel, Germany
    Forensic Sci Int Genet 6:e129-30. 2012
    ....
  59. ncbi request reprint On the length distribution of external branches in coalescence trees: genetic diversity within species
    Amke Caliebe
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat Kiel, 24105 Kiel, Germany
    Theor Popul Biol 72:245-52. 2007
    ..Therefore, it measures the uniqueness of a random individual, a central characteristic of the genetic diversity of a population...
  60. ncbi request reprint Familial influences and obesity-associated metabolic risk factors contribute to the variation in resting energy expenditure: the Kiel Obesity Prevention Study
    Anja Bosy-Westphal
    Institut fur Humanernahrung und Lebensmittelkunde, Christian Albrechts Universitat, Kiel, Germany
    Am J Clin Nutr 87:1695-701. 2008
    ..A low metabolic rate may be inherited and predispose to obesity, whereas a higher metabolic rate in obesity may be acquired by obesity-associated cardiometabolic risk...
  61. ncbi request reprint Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer
    Clemens Schafmayer
    Department of General and Thoracic Surgery, Christian Albrechts University, Kiel, Germany
    Int J Cancer 121:555-8. 2007
    ..It remains to be elucidated by more systematic, large-scale experiments whether common variants in the same genes, but present across populations, represent risk factors for sporadic CRC...
  62. ncbi request reprint A role for overdominant selection in phenylketonuria? Evidence from molecular data
    Michael Krawczak
    Institut für Medizinische Informatik und Statistik, Christian Albrechts Universitat, Kiel, Germany
    Hum Mutat 21:394-7. 2003
    ..Such selection would have acted upon several different mutations in different historical populations. The exact nature of the underlying selective mechanism is unknown; its elucidation requires further investigation...
  63. ncbi request reprint Genotype-phenotype correlations in X-linked myotubular myopathy
    Meriel McEntagart
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Neuromuscul Disord 12:939-46. 2002
    ..The high survival rate for this disorder therefore reflects intensive medical intervention without which the majority of these boys would not survive...
  64. ncbi request reprint Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity
    Nadia A Chuzhanova
    Department of Computer Science, Cardiff University, Cardiff, UK
    Hum Mutat 21:28-44. 2003
    ....
  65. ncbi request reprint Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population
    Uta Dorothee Immel
    Department of Legal Medicine, Martin Luther University, Halle Saale, Germany
    Eur J Hum Genet 14:577-82. 2006
    ..Our results suggest that surnames may provide a simple means to stratify, and thereby to render more efficient, Y-chromosomal analyses of Central Europeans that target more ancient events...
  66. ncbi request reprint Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature
    David S Millar
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Mutat 21:424-40. 2003
    ....
  67. pmc No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans
    Almut Nebel
    Institutes for Clinical Molecular Biology and Medical Informatics and Statistics and Hospital for General Internal Medicine, University Hospital Schleswig Holstein, 24105 Kiel, Germany
    Proc Natl Acad Sci U S A 102:7906-9. 2005
    ..In our view, the original study therefore highlights potential problems that arise when the case-control design is used as a means to map longevity genes in humans...
  68. pmc Efficacy assessment of SNP sets for genome-wide disease association studies
    Andreas Wollstein
    Cologne Center for Genomics, Cologne, Germany
    Nucleic Acids Res 35:e113. 2007
    ..An optimal technology-independent 500K marker set constructed from HapMap for Caucasians, in contrast, would achieve 73% coverage at the same relative efficacy...
  69. ncbi request reprint Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease
    Bent N Terp
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Mutat 20:98-109. 2002
    ..However, since the proteins examined here were unrelated, and our findings consistent, it may nevertheless prove possible to extrapolate to other proteins whose dysfunction underlies inherited disease...
  70. ncbi request reprint A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene
    Tin Aung
    Singapore National Eye Centre, Singapore
    Hum Genet 110:52-6. 2002
    ..04, P=0.00001 after correcting for testing four genotypes). These results indicate that polymorphisms in the OPA1 gene are associated with NTG and may be a marker for the disease...
  71. ncbi request reprint Correlation between genetic and geographic structure in Europe
    Oscar Lao
    Department of Forensic Molecular Biology, Erasmus University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands
    Curr Biol 18:1241-8. 2008
    ..By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry...
  72. pmc On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants
    Diana Luca
    Department of Statistics, Carnegie Mellon University Pittsburgh, PA 15213, USA
    Am J Hum Genet 82:453-63. 2008
    ..We perform a GWA by matching Americans with type 1 diabetes (T1D) to controls from Germany. Despite the complex study design, these analyses identify numerous loci known to confer risk for T1D...
  73. ncbi request reprint Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association or epistasis
    Nadine Norton
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK
    Am J Med Genet 114:491-6. 2002
    ..Our data, therefore, do not support the hypothesis that genetic variation in MAOA and COMT is involved individually or in combination in the etiology of schizophrenia...
  74. ncbi request reprint SNP-based analysis of genetic substructure in the German population
    Michael Steffens
    Institute of Medical Biometry, Informatics and Epidemiology, Rheinische Friedrich Wilhelms University, Bonn, Germany
    Hum Hered 62:20-9. 2006
    ..Two of the three samples, POPGEN (n = 720) and SHIP (n = 709), are from north and north-east Germany, respectively, and one sample, KORA (n = 730), is from southern Germany...
  75. ncbi request reprint Asian online Y-STR Haplotype Reference Database
    Ruediger Lessig
    Institute of Legal Medicine, University of Leipzig, Johannisallee 28, D 04103 Leipzig, Germany
    Leg Med (Tokyo) 5:S160-3. 2003
    ..All databases are maintained and curated at the Institute of Legal Medicine, Humboldt-University, Berlin and will soon be fused to a global repository including populations from all continents...
  76. ncbi request reprint Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model
    Leonor Gusmao
    IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr Roberto Frias s n, 4200 465, Porto, Portugal
    Int J Legal Med 117:287-90. 2003
    ..The loci do therefore not appear to warrant any special attention when applied in population genetic or forensic studies...
  77. ncbi request reprint Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours
    Jeremy P Cheadle
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, United Kingdom
    Cancer Res 62:363-6. 2002
    ..9 times more likely to be selected than IO or IL (O: mutation outside MCR, L: allelic loss), which were 27.8 times more likely to be selected than OO or OL...
  78. ncbi request reprint Association of inflammatory bowel disease with indicators for childhood antigen and infection exposure
    Jochen Hampe
    First Department of Medicine, Christian Albrecht University, Schittenhelmstrasse 12, 24105 Kiel, Germany
    Int J Colorectal Dis 18:413-7. 2003
    ..It is presently unclear how environmental factors either trigger or modify the risk for and course of IBD in the presence of genetic susceptibility...
  79. ncbi request reprint Multiple sirehood in free-ranging twin rhesus macaques (Macaca mulatta)
    Fred B Bercovitch
    Caribbean Primate Research Center, Sabana Seca, Puerto Rico, USA
    Am J Primatol 57:31-4. 2002
    ..These data enable us to report the first documented case in any cercopithecine nonhuman primate species of the production of twin offspring sired by different males...
  80. ncbi request reprint Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region
    Martin Horan
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Mutat 21:408-23. 2003
    ..The genetic basis of inter-individual differences in GH1 gene expression thus appears to be extremely complex...
  81. ncbi request reprint The evolution of the vertebrate beta-globin gene promoter
    Nadia A Chuzhanova
    Department of Computer Science, Cardiff University, United Kingdom
    Evolution 56:224-32. 2002
    ....
  82. ncbi request reprint Proposed guidelines for papers describing DNA polymorphism-disease associations
    David N Cooper
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Hum Genet 110:207-8. 2002
    ..Guidelines are therefore proposed that are intended to promote the publication of scientifically meaningful disease association studies through the introduction of sensible methodological standards...
  83. doi request reprint An illicit love affair during the Third Reich: who is my grandfather?
    Antje Milde-Kellers
    Institut fur Klinische Pharmakologie, Zentrum für Bioanalytik, Klinikum Bremen Mitte gGmbH, Bremen, Germany
    J Forensic Sci 53:377-9. 2008
    ..The combined genotypes yielded a cumulative likelihood ratio of over 200,000 against paternity of Gustav H. This case serves to illustrate the utility of STR profiles for complex deficiency kinship analysis...
  84. ncbi request reprint Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
    Shaun S Abeysinghe
    Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
    Hum Mutat 22:229-44. 2003
    ..Our results are therefore consistent with a role for homologous unequal recombination in deletion mutagenesis and a role for nonhomologous recombination in the generation of translocations...
  85. ncbi request reprint Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends
    Nadia Chuzhanova
    Department of Computer Science, Cardiff University, Cardiff, UK
    Hum Mutat 22:245-51. 2003
    ..These findings extend our understanding of illegitimate recombination by highlighting the importance of secondary structure formation between single-stranded DNA ends at breakpoint junctions...
  86. pmc A longitudinal analysis of reproductive skew in male rhesus macaques
    Anja Widdig
    Institut fur Medizinische Genetik, Universitatsklinikum Charite, Humboldt Universitat zu Berlin, 10098 Berlin, Germany
    Proc Biol Sci 271:819-26. 2004
    ..We conclude that reproductive skew in male rhesus macaques is best accounted for by the 'limited-control' model, with multiple factors interacting to regulate individual reproductive output...
  87. doi request reprint Hypotheses in genome-wide association scans
    Michael Nothnagel
    Eur J Hum Genet 16:1174-5; author reply 1175. 2008
  88. ncbi request reprint IMPG1 gene variation in rhesus macular drusen
    Krishna K Singh
    Institut fur Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany
    Vet Ophthalmol 10:274-7. 2007
    ..Taken together, the data highlight that additional factors, other than IMPG1 variation, must play a role in drusen pathogenesis in rhesus macaques...
  89. ncbi request reprint A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
    Stephan 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...
  90. doi request reprint Increased heritability of gallstone disease in early onset cases
    Clemens Schafmayer
    Liver Int 28:895-7. 2008
  91. ncbi request reprint A legal framework for biobanking: the German experience
    Jurgen Simon
    Institut fur Rechtswissenschaften, Universitat Luneburg, Luneburg, Germany
    Eur J Hum Genet 15:528-32. 2007
    ..Here, we provide a brief summary of the major results of this project...
  92. ncbi request reprint A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss
    Nadia Bogdanova
    Institut fur Humangenetik, Westfalian Wilhelms University of Münster and University Clinic Münster, Munster, Germany
    Hum Mol Genet 16:573-8. 2007
    ....
  93. pmc Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
    Petr Vyletal
    Center for Applied Genomics, Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic
    Hum Mutat 28:255-64. 2007
    ..833C; -] chromosomes may have originated by recurrent gene conversion employing the common nonpathogenic c.[833C; 844_845ins68] chromosomes as templates...
  94. ncbi request reprint Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke
    Martin Horan
    Institute of Medical Genetics, Cardiff University, Heath Park, CF14 4XN, Cardiff, UK
    Hum Genet 119:527-40. 2006
    ..Although the underlying mechanisms are still unclear, our findings are consistent with a complex relationship between height, hypertension, GH1 promoter haplotype, GHR polymorphism and the risk of stroke...
  95. ncbi request reprint Mapping of a macular drusen susceptibility locus in rhesus macaques to the homologue of human chromosome 6q14-15
    Krishna K Singh
    Institut fur Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany
    Exp Eye Res 81:401-6. 2005
    ..This is an important tool for the separation of genetic and environmental factors which must occur before satisfactory management methods can be developed...
  96. ncbi request reprint Haplotyping of STR cluster DXS6801-DXS6809-DXS6789 on Xq21 provides a powerful tool for kinship testing
    Reinhard Szibor
    Institut fur Rechtsmedizin, Otto von Guericke Universitat Magdeburg, Leipziger Strasse 44, 39120 Magdeburg, Germany
    Int J Legal Med 119:363-9. 2005
    ..To highlight the potential of the STR cluster for forensic analysis, we also report two examples of its successful application in pedigree-based kinship testing...
  97. ncbi request reprint Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity
    Edward V Ball
    Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom
    Hum Mutat 26:205-13. 2005
    ..Thus, microinsertions and microdeletions exhibit strong similarities in terms of the characteristics of their flanking DNA sequences, implying that they are generated by very similar underlying mechanisms...
  98. ncbi request reprint Genetics of Crohn disease, an archetypal inflammatory barrier disease
    Stefan 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...
  99. ncbi request reprint Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia
    Kyoung Don Kwak
    Department of Biological Sciences, Dankook University, Cheonan, 330 714, South Korea
    Int J Legal Med 119:195-201. 2005
    ..An admixture estimate suggested 55(51-59)% northern, 45(41-49)% southern contribution to the Koreans, illustrating the complexity of the genetic history of this region...
  100. ncbi request reprint Signature of recent historical events in the European Y-chromosomal STR haplotype distribution
    Lutz Roewer
    Institute of Legal Medicine, Humboldt University, Berlin, Germany
    Hum Genet 116:279-91. 2005
    ..We conclude that Y-STRs may be capable of resolving male genealogies to an unparalleled degree and could therefore provide a useful means to study local population structure and recent demographic history...
  101. doi request reprint Genetic variants of the copy number polymorphic beta-defensin locus are associated with sporadic prostate cancer
    Klaus Huse
    Genome Analysis, Leibniz Institute for Age Research, Fritz Lipmann Institute, Jena, Germany
    Tumour Biol 29:83-92. 2008
    ..This structural variation considerably hampers genetic studies. In a new approach considering both sequence as well as copy number variations we aimed to compare the defensin locus at 8p23 in prostate cancer patients and controls...