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Home > Wissenschaftliche Projekte und Veröffentlichungen

Scientific publications from current and completed projects

The following list contains information and links to important scientific papers that have been generated using biomaterials and/or medical data from biobanks of the P2N Network and published in renowed scientific journals.

The papers are sorted in chronological order by year of publication - with the most recent publications at the top. The links at the publications lead to the corresponding entries in the internationally recognized database Link to PubMed  for publications in biomedical journals. The list is continuously updated.


Scientific Publications



  1. Barbaresko J et al. Dietary patterns associated with inflammatory biomarkers in a Northern German population. Eur J Nutr. 2020;59(4):1433-1441. PubMed PMID: 31115681.
  2. Bruhn O et al. Alternative Polyadenylation of ABC Transporters of the C-Family (ABCC1, ABCC2, ABCC3) and Implications on Posttranscriptional Micro-RNA Regulation. Mol Pharmacol. 2020;97(2):112-122. PubMed PMID: 31757862.
  3. Gemoll T et al. Protein Profiling of Serum Extracellular Vesicles Reveals Qualitative and Quantitative Differences After Differential Ultracentrifugation and ExoQuick(TM) Isolation. J Clin Med. 2020;9(5) PubMed PMID: 32408476.
  4. Gönnermann D et al. Galectin-3 Released by Pancreatic Ductal Adenocarcinoma Suppresses gammadelta T Cell Proliferation but Not Their Cytotoxicity. Front Immunol. 2020;11:1328. PubMed PMID: 32695112.
  5. Hendricks A et al. Isolation and Enumeration of CTC in Colorectal Cancer Patients: Introduction of a Novel Cell Imaging Approach and Comparison to Cellular and Molecular Detection Techniques. Cancers (Basel). 2020;12(9) PubMed PMID: 32947903.
  6. Jennings A et al. The role of the gut microbiome in the association between habitual anthocyanin intake and visceral abdominal fat in population-level analysis. Am J Clin Nutr. 2020;111(2):340-350. PubMed PMID: 31826255.
  7. Jonescheit H et al. Influence of Indoleamine-2,3-Dioxygenase and Its Metabolite Kynurenine on gammadelta T Cell Cytotoxicity against Ductal Pancreatic Adenocarcinoma Cells. Cells. 2020;9(5) PubMed PMID: 32384638.
  8. Richter F et al. Comparative Analysis of Blood and Bone Marrow for the Detection of Circulating and Disseminated Tumor Cells and Their Prognostic and Predictive Value in Esophageal Cancer Patients. J Clin Med. 2020;9(8) PubMed PMID: 32824841.
  9. Scherer M et al. Quantitative comparison of within-sample heterogeneity scores for DNA methylation data. Nucleic Acids Res. 2020;48(8):e46. PubMed PMID: 32103242.
  10. Szymczak S et al. DNA methylation QTL analysis identifies new regulators of human longevity. Hum Mol Genet. 2020;29(7):1154-1167. PubMed PMID: 32160291.
  11. Uellendahl-Werth F et al. A benchmark of hemoglobin blocking during library preparation for mRNA-Sequencing of human blood samples. Sci Rep. 2020;10(1):5630. PubMed PMID: 32221409.



  1. Wuttke M et al. A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nat Genet. 2019;51(6):957-972. PubMed PMID: 31152163.
  2. di Giuseppe R et al. Dietary patternassociated with selenoprotein P and MRI-derived body fat volumes, liver signal intensity, and metabolic disorders. Eur J Nutr. 2019;58(3):1067-1079. PubMed PMID: 29445913.
  3. Wang Yet al. Associations of plasma CD36 and body fat distribution. J Clin Endocrinol Metab. 2019. PubMed PMID: 31034016.
  4. Hopfner F et al. No association between Parkinson disease and autoantibodies against NMDA-type glutamate receptors. Transl Neurodegener. 2019;8:11. PubMed PMID: 30984390.
  5. Lieb W et al. Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network. J Community Genet. 2019. PubMed PMID: 30927239.
  6. Bustos BI et al. Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry. Sci Rep. 2019;9(1):772. PubMed PMID: 30692554.
  7. Schafmayer C et al. Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms. Gut. 2019;68(5):854-865. PubMed PMID: 30661054.
  8. Gärtner F et al. The expression of death receptor systems TRAIL-R1/-R2/-R4, CD95 and TNF-R1 and their cognate ligands in pancreatic ductal adenocarcinoma. Histol Histopathol. 2019;34(5):491-501. PubMed PMID: 30375637.
  9. Schmit SL et al. Novel Common Genetic Susceptibility Loci for Colorectal Cancer. J Natl Cancer Inst. 2019 Feb 1;111(2):146-157. PubMed PMID: 29917119.



  1. Hendricks A et al. Identifying patients with an unfavorable prognosis in early stages of colorectal carcinoma. Oncotarget. 2018;9(44):27423-27434. PubMed PMID: 29937995.
  2. Elbahri M et al. Plasmonic Metaparticles on a Blackbody Create Vivid Reflective Colors for Naked-Eye Environmental and Clinical Biodetection. Adv Mater. 2018;30(4). PubMed PMID: 29215167.
  3. International League Against Epilepsy Consortium on Complex Epilepsies. Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nat Commun. 2018;9(1):5269. PubMed PMID: 30531953.
  4. Kordowski F et al. Aberrant DNA methylation of ADAMTS16 in colorectal and other epithelial cancers. BMC Cancer. 2018;18(1):796. PubMed PMID: 30081852.
  5. Ratjen I et al. Health-related quality of life in long-term survivors of colorectal cancer and its association with all-cause mortality: a German cohort study. BMC Cancer. 2018;18(1):1156. PubMed PMID: 30466408.
  6. di Giuseppe R et al. Metabolomics signature associated with circulating serum selenoprotein P levels. Endocrine. 2018. PubMed PMID: 30448992.
  7. Flüh C et al. NKG2D ligands in glioma stem-like cells: expression in situ and in vitro. Histochem Cell Biol. 2018;149(3):219-233. PubMed PMID: 29356965.



  1. Adamski V et al. (2017) Isolation and characterization of fast migrating human glioma cells in progression of malignant gliomas. Oncol Res 25 (3), 341-353. PubMed
  2. Adamski V et al. Dormant glioblastoma cells acquire stem cell characteristics and are differentially affected by Temozolomide and AT101 treatment. Oncotarget. 2017;8(64):108064-108078. PubMed PMID: 29296224.
  3. Adamski V et al. The Chemokine Receptor CXCR6 Evokes Reverse Signaling via the Transmembrane Chemokine CXCL16. Int J Mol Sci. 2017;18(7). PubMed PMID: 28698473.
  4. Böger C et al. (2017) Epstein-Barr virus-associated gastric cancer reveals intratumoral heterogeneity of PIK3CA mutations. Ann Oncol 28 (5), 1005-1014. PubMed
  5. Ellinghaus E et al. (2017) Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci. Sci Rep 7, 45652. PubMed
  6. Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome Genome Project (2017) Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet 25 (7), 894-899. PubMed
  7. di Giuseppe R et al. (2017) Circulating selenoprotein P levels in relation to MRI-derived body fat volumes, liver fat content, and metabolic disorders. Obesity (Silver Spring) 25 (6), 1128-1135. PubMed
  8. Häsler R et al. (2017): Genetic interplay between human longevity and metabolic pathways - a large-scale eQTL study. Aging Cell 16 (4), 716-725. PubMed
  9. Hinz S et al. (2017) Detection of circulating tumor cells with CK20 RT-PCR is an independent negative prognostic marker in colon cancer patients - a prospective study. BMC Cancer 17 (1), 53. PubMed
  10. Ji SG et al. (2017) Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. Nat Genet 49 (2), 269-273. PubMed
  11. Bronson MA, Smith DL, Tuchin P. Spinal manipulation is beneficial for nonchronic low back pain. Am J Emerg Med. 2017;35(10):1576-1577. PubMed PMID: 28442177.
  12. Koch, M et al. (2017): Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample. Eur J Clin Nutr 71 (8), 995-1001. PubMed
  13. Marwitz S et al. (2017) Epigenetic modifications of the immune-checkpoint genes CTLA4 and PDCD1 in non-small cell lung cancer results in increased expression. Clin Epigenetics 9, 51. PubMed
  14. Mayerle J et al. (2017) Metabolic biomarker signature to differentiate pancreatic ductal adenocarcinoma from chronic pancreatitis. Gut 67 (1), 128-137. PubMed
  15. Munz M et al. (2017) A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis. Hum Mol Genet 26 (13), 2577-2588. PubMed
  16. Richter G et al. (2017) Broad consent for health care-embedded biobanking: understanding and reasons to donate in a large patient sample. Genet Med 20 (1), 76-82. PubMed
  17. Rühle F et al. Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism. Blood. 2017;129(6):783-790. PubMed PMID: 28011674.
  18. Rühlemann MC et al. (2017): Faecal microbiota profiles as diagnostic biomarkers in primary sclerosing cholangitis. Gut 66 (4), 753-754. PubMed
  19. Webb TR et al. (2017) Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated with Coronary Artery Disease. J Am Coll Cardiol 69 (7), 823-836. PubMed



  1. Andlauer TFM et al. (2016): Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation. Sci Adv 2 (6), e1501678. PubMed
  2. Degenhardt F et al. (2016) (2016): Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases. Hum Mol Genet 25 (13), 2881-2891. PubMed
  3. ElSharawy A et al. (2016) Concentration of circulating miRNA-containing particles in serum enhances miRNA detection and reflects CRC tissue-related deregulations. Oncotarget 7 (46), 75353-75365. PubMed
  4. Flachsbart F (2016) Immunochip analysis identifies association of the RAD50/IL13 region with human longevity. Aging Cell 15 (3), 585–588. PubMed
  5. Flüh C et al. (2016) Differential expression of CXCR4 and CXCR7 with various stem cell markers in paired human primary and recurrent glioblastomas. Int J Oncol 48, 1408-1416. PubMed
  6. Ganbat D et al. (2016) Mycobacteria infect different cell types in the human lung and cause species dependent cellular changes in infected cells. BMC Pulm Med 16, 19. PubMed
  7. Goldmann T et al. (2016) PD-L1 copy number gain in nonsmall-cell lung cancer defines a new subset of patients for anti PD-L1 therapy. Ann Oncol 27 (1), 206-207. PubMed
  8. Hattermann K et al. (2016) Transmembrane chemokines act as receptors in a novel mechanism termed inverse signaling. eLife 5, e10820. PubMed
  9. Hattermann K et al. (2016) Stem cell markers in glioma progression and recurrence. Int J Oncol 49 (5), 1899-1910. PubMed
  10. Hattermann K et al. "Inverse signaling" of the transmembrane chemokine CXCL16 contributes to proliferative and anti-apoptotic effects in cultured human meningioma cells. Cell Commun Signal. 2016;14(1):26. PubMed PMID: 27784296.
  11. Joshi AD et al. (2016): Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-wide Association Studies. Gastroenterology 151 (2), 351-363. PubMed
  12. Krause T et al. Validation of antibody reagents for mucin analysis in chronic inflammatory airway diseases. MAbs 9 (2), 333-341. PubMed
  13. Lemke JR et al. (2016) Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology 86 (23), 2171-2178. PubMed
  14. Marwitz S et al. (2016) Downregulation of the TGFβ Pseudoreceptor BAMBI in Non-Small Cell Lung Cancer Enhances TGFβ Signaling and Invasion. Cancer Res 76 (13), 3785-3801. PubMed
  15. Rivera NV et al. (2016) High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences. Am J Resp Crit Care Med 193 (9), 1008–1022. PubMed
  16. Saadati HR et al. (2016) Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci. BMC Med Genet 17, 26. PubMed
  17. Schmitt J et al. (2016) Atopic dermatitis is associated with an increased risk for rheumatoid arthritis and inflammatory bowel disease, and a decreased risk for type 1 diabetes. J Allergy Clin Immunol 137 (1), 130-136. PubMed
  18. Taudien et al. (2016) Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive. EBioMedicine 12, 227-238. PubMed
  19. van Rheenen W et al. (2016): Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet 48 (9), 1043–1048. PubMed



  1. Buch S et al. (2015) A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis. Nat Genet 47 (12), 1443–1448. PubMed
  2. Carvill GL et al. (2015) Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet 96 (5), 808-815. PubMed
  3. Fischer A et al. (2015) Identification of Immune-relevant Factors Conferring Sarcoidosis Genetic Risk. Am J Respir Crit Care Med 192 (6), 727-736. PubMed
  4. Fischer K et al. (2015) MRI-determined total volumes of visceral and subcutaneous abdominal and trunk adipose tissue are differentially and sex-dependently associated with patterns of estimated usual nutrient intake in a northern German population. Am J Clin Nutr 101 (4), 794–807. PubMed
  5. Fischer K et al. (2015) Association of Habitual Patterns and Types of Physical Activity and Inactivity with MRI-Determined Total Volumes of Visceral and Subcutaneous Abdominal Adipose Tissue in a General White Population. PLoS ONE 10 (11), e0143925. PubMed
  6. Hartmann C et al. (2015) Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. Epilepsia 56 (3), e26-32. PubMed
  7. Hirose M et al. (2015) Polymorphisms in the mitochondrially encoded ATP synthase 8 gene are associated with susceptibility to bullous pemphigoid in the German population. Exp Dermatol 24 (9), 715-717. PubMed
  8. Hopfner F et al. (2015) The impact of rare variants in FUS in essential tremor. Mov Disord 30 (5), 721-724. PubMed
  9. Kato N et al. (2015) Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. Nat Genet 47 (11), 1282-1293. PubMed
  10. Koch M et al. (2015) Psoriasis and Cardiometabolic Traits: Modest Association but Distinct Genetic Architectures. J Invest Dermatol 135 (5), 1283-1293. PubMed
  11. Koch M et al. (2015) Association of a lifestyle index with MRI-determined liver fat content in a general population study. J Epidemiol Community Health 69 (8), 732-737. PubMed
  12. Koch M, Nöthlings U, Lieb W (2015): Dietary patterns and fatty liver disease. Curr Opin Lipidol 26 (1), 35-41. PubMed
  13. Koch M, Nöthlings U, Lieb W (2015): A priori-defined dietary patterns and mortality: recent insights. Curr Opin Lipidol 26 (4), 346-347. PubMed
  14. Krossa S et al. (2015) Down regulation of Akirin-2 increases chemosensitivity in human glioblastomas more efficiently than Twist-1. Oncotarget 6 (25), 21029-21045. PubMed
  15. Kubelt C et al. (2015) Epithelial-to-mesenchymal transition in paired human primary and recurrent glioblastoma. Int J Oncol. 46 (6), 2515-2525. PubMed
  16. Kunz M et al. (2015) Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus. Exp Dermatol 24 (7), 510-515. PubMed
  17. Lal D et al. (2015) Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet 11 (5), e1005226. PubMed
  18. Larsen J et al. (2015) The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia 56 (12), e203-208. PubMed
  19. Lascano V et al. (2015) Circulating APRIL levels are correlated with advanced disease and prognosis in rectal cancer patients. Oncogenesis 4, e136. PubMed
  20. Li J et al. Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. Nat Commun. 2015;6:6804. doi: 10.1038/ncomms7804. PubMed PMID: 25891430.
  21. Marenholz I (2015) Meta-analysis identifies seven susceptibility loci involved in the atopic march. Nat Commun 6, 8804. PubMed
  22. Onur S et al. (2015) Association between serum level of ubiquinol and NT-proBNP, a marker for chronic heart failure, in healthy elderly subjects. Biofactors 41 (1), 35-43. PubMed
  23. Onur S et al. (2015) Determination of the coenzyme Q10 status in a large Caucasian study population. Biofactors 41 (4), 211-221. PubMed
  24. Paternoster L et al. (2015) Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nat Genet 47(12), 1449-1456. PubMed
  25. Rüttgers D et al. (2015) Association of food consumption with total volumes of visceral and subcutaneous abdominal adipose tissue in a Northern German population. Br J Nutr 114 (11), 1929–1940. PubMed
  26. Schaarschmidt H et al. (2015) A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis. J Allergy Clin Immunol 136 (3), 802-806. PubMed
  27. Schaefer AS et al. (2015) Genetic evidence for PLASMINOGEN as a shared genetic risk factor of coronary artery disease and periodontitis. Circ Cardiovasc Genet 8 (1):159-167. PubMed
  28. Timofeeva MN et al. (2015) Recurrent Coding Sequence Variation Explains Only a Small Fraction of the Genetic Architecture of Colorectal Cancer. Sci Rep 5, 16286. PubMed
  29. Watermann I et al. (2015) Improved diagnostics targeting c-MET in non-small cell lung cancer: expression, amplification and activation? Diagn Pathol 10:130. PubMed
  30. Westerlind H et al. (2015) Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis. Gut 66 (3), 421-428. PubMed
  31. Yadav P et al. (2015) The role of linkage disequilibrium in case-only studies of gene-environment interactions. Hum Genet 134 (1), 89-96. PubMed
  32. Yin X et al. (2015) Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. Nat Commun 6, 6916. PubMed
  33. Zehethofer N et al. (2015) Lipid Analysis of Airway Epithelial Cells for Studying Respiratory Diseases. Chromatographia 78 (5-6), 403-413. PubMed



  1. Barbaresko J et al. (2014) Comparison of two exploratory dietary patterns in association with the metabolic syndrome in a Northern German population. Br J Nutr 112 (8), 1364–1372. PubMed
  2. Bertsch U et al. (2014) Compartmentalization of TNF-related apoptosis-inducing ligand (TRAIL) death receptor functions: emerging role of nuclear TRAIL-R2. Cell Death Dis 5, e1390. PubMed
  3. Cascorbi I, Tyndale R (2014) Progress in pharmacogenomics: bridging the gap from research to practice. Clin Pharmacol Ther 95 (3), 231-235. PubMed
  4. Deelen J et al. (2014) Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. Hum Mol Genet 23 (16), 4420-4432. PubMed
  5. Freitag-Wolf S et al. (2014) Genome-wide exploration identifies sex-specific genetic effects of alleles upstream NPY to increase the risk of severe periodontitis in men. J Clin Periodontol 41 (12), 1115–1121. PubMed
  6. Hattermann K et al. (2014) Chemokine expression profile of freshly isolated human glioblastoma-associated macrophages/microglia. Oncol Rep 32, 270-276. PubMed
  7. International League Against Epilepsy Consortium on Complex Epilepsies (2014) Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol 13 (9), 893-903. PubMed
  8. de Jong TMH et al. (2014) SLC23A1 polymorphism rs6596473 in the vitamin C transporter SVCT1 is associated with aggressive periodontitis. J Clin Periodontol 41 (6), 531-540. PubMed
  9. Knoll N et al. (2014) Mitochondrial DNA Variants in Obesity. PLoS One 9 (5), e94882. PubMed
  10. Koch M et al. (2014) Dietary patterns associated with magnetic resonance imaging-determined liver fat content in a general population study. Am J Clin Nutr 99 (2), 369-377. PubMed
  11. Onur S et al. (2014) Ubiquinol reduces gamma glutamyltransferase as a marker of oxidative stress in humans. BMC Res Notes 7 (1), 427. PubMed
  12. Schaefer AS et al. (2014) A large candidate-gene association study suggests genetic variants at IRF5 and PRDM1 to be associated with aggressive periodontitis. J Clin Periodontol 41 (12), 1122–1131. PubMed
  13. Schlesinger S et al. (2014) Post-diagnosis Body Mass Index and Risk of Mortality in Colorectal Cancer Survivors – a Prospective Study and Meta-Analysis. Cancer Causes Control 25 (10), 1407-1418. PubMed
  14. Schlesinger S et al. (2014) Lifestyle factors and health-related quality of life in colorectal cancer survivors. Cancer Causes Control 25 (1), 99-110. PubMed
  15. Schubert J et al. (2014) Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet 46 (12), 1327-1332. PubMed
  16. Stark AM et al. (2014) Expression of DNA Mismatch Repair Proteins MLH1, MSH2 and MSH6 in Recurrent Glioblastoma. Neurol Res 37, 95-105. PubMed


  1. Hattermann K et al. (2013) Expression of the chemokines CXCL12 and CX3CL1 and their receptors in human nerve sheath tumors. Histol Histopathol 28 (10),1337-1349. PubMed