Prof. Dr. Erwin Böttinger

Claudia Schurmann

Managing Director Genomics Core

Phone: +49-(0)331 5509-4845

Room: G-2.2.34

Email: claudia.schurmann(at)hpi.de

Web: LinkedIn

CV: Download

Research topics

  • Statistical Genomics, Population Genetics, Complex Traits, Metabolic and cardiovascular traits and diseases


  • Wojcik, G. L. et al. “Genetic Analyses Of Diverse Populations Improves Discovery For Complex Traits”. Nature570.7762 (2019): 514--518. Print.
  • Spracklen, C. N. et al. “Exome-Derived Adiponectin-Associated Variants Implicate Obesity And Lipid Biology”. Am. J. Hum. Genet.105.1 (2019): 15--28. Print.
  • Flannick, J. et al. “Exome Sequencing Of 20,791 Cases Of Type 2 Diabetes And 24,440 Controls”. Nature570.7759 (2019): 71--76. Print.
  • Justice, A. E. et al. “Protein-Coding Variants Implicate Novel Genes Related To Lipid Homeostasis Contributing To Body-Fat Distribution”. Nat. Genet.51.3 (2019): 452--469. Print.
  • Moon, J. Y. et al. “A Genome-Wide Association Study Identifies Blood Disorder-Related Variants Influencing Hemoglobin A1C With Implications For Glycemic Status In U.s. Hispanics/Latinos”. Diabetes Care (2019): n. pag. Print.
  • Saccone, N. L. et al. “Genome-Wide Association Study Of Heavy Smoking And Daily/Nondaily Smoking In The Hispanic Community Health Study/Study Of Latinos (Hchs/Sol)”. Nicotine Tob. Res.20.4 (2018): 448--457. Print.
  • Turcot, V. et al. “Protein-Altering Variants Associated With Body Mass Index Implicate Pathways That Control Energy Intake And Expenditure In Obesity”. Nat. Genet.50.1 (2018): 26--41. Print.
  • Abul-Husn, N. S. et al. “A Protein-Truncating Hsd17B13 Variant And Protection From Chronic Liver Disease”. N. Engl. J. Med.378.12 (2018): 1096--1106. Print.
  • Jo Hodonsky, C. et al. “Generalization And Fine Mapping Of Red Blood Cell Trait Genetic Associations To Multi-Ethnic Populations: The Page Study”. Am. J. Hematol. (2018): n. pag. Print.
  • Mahajan, A. et al. “Fine-Mapping Type 2 Diabetes Loci To Single-Variant Resolution Using High-Density Imputation And Islet-Specific Epigenome Maps”. Nat. Genet.50.11 (2018): 1505--1513. Print.
  • Bonnemaijer, P. W. M. et al. “Genome-Wide Association Study Of Primary Open-Angle Glaucoma In Continental And Admixed African Populations”. Hum. Genet.137.10 (2018): 847--862. Print.
  • Ligthart, S. et al. “Genome Analyses Of >200,000 Individuals Identify 58 Loci For Chronic Inflammation And Highlight Pathways That Link Inflammation And Complex Disorders”. Am. J. Hum. Genet.103.5 (2018): 691--706. Print.
  • Li, M. et al. “Sos2 And Acp1 Loci Identified Through Large-Scale Exome Chip Analysis Regulate Kidney Development And Function”. J. Am. Soc. Nephrol.28.3 (2017): 981--994. Print.
  • Wain, L. V. et al. “Genome-Wide Association Analyses For Lung Function And Chronic Obstructive Pulmonary Disease Identify New Loci And Potential Druggable Targets”. Nat. Genet.49.3 (2017): 416--425. Print.
  • Nadkarni, G. N. et al. “Apolipoprotein L1 Variants And Blood Pressure Traits In African Americans”. J. Am. Coll. Cardiol.69.12 (2017): 1564--1574. Print.
  • Jain, D. et al. “Genome-Wide Association Of White Blood Cell Counts In Hispanic/Latino Americans: The Hispanic Community Health Study/Study Of Latinos”. Hum. Mol. Genet.26.6 (2017): 1193--1204. Print.
  • Christophersen, I. E. et al. “Large-Scale Analyses Of Common And Rare Variants Identify 12 New Loci Associated With Atrial Fibrillation”. Nat. Genet.49.6 (2017): 946--952. Print.
  • Justice, A. E. et al. “Genome-Wide Meta-Analysis Of 241,258 Adults Accounting For Smoking Behaviour Identifies Novel Loci For Obesity Traits”. Nat Commun8 (2017): 14977. Print.
  • Hodonsky, C. J. et al. “Genome-Wide Association Study Of Red Blood Cell Traits In Hispanics/Latinos: The Hispanic Community Health Study/Study Of Latinos”. PLoS Genet.13.4 (2017): e1006760. Print.
  • Loviglio, M. N. et al. “Chromosomal Contacts Connect Loci Associated With Autism, Bmi And Head Circumference Phenotypes”. Mol. Psychiatry22.6 (2017): 836--849. Print.
  • Dewey, F. E. et al. “Genetic And Pharmacologic Inactivation Of Angptl3 And Cardiovascular Disease”. N. Engl. J. Med.377.3 (2017): 211--221. Print.
  • Belbin, G. M. et al. “Genetic Identification Of A Common Collagen Disease In Puerto Ricans Via Identity-By-Descent Mapping In A Health System”. Elife6 (2017): n. pag. Print.
  • Marouli, E. et al. “Rare And Low-Frequency Coding Variants Alter Human Adult Height”. Nature542.7640 (2017): 186--190. Print.
  • den Hollander, W. J. et al. “Helicobacter Pylori Colonization And Obesity - A Mendelian Randomization Study”. Sci Rep7.1 (2017): 14467. Print.
  • Yang, B. et al. “Protein-Altering And Regulatory Genetic Variants Near Gata4 Implicated In Bicuspid Aortic Valve”. Nat Commun8 (2017): 15481. Print.
  • Christophersen, I. E. et al. “Erratum: Large-Scale Analyses Of Common And Rare Variants Identify 12 New Loci Associated With Atrial Fibrillation”. Nat. Genet.49.8 (2017): 1286. Print.
  • Zeller, T. et al. “Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure”. Hypertension70.4 (2017): 743--750. Print.
  • Uebe, S. et al. “Genome-Wide Association And Targeted Analysis Of Copy Number Variants With Psoriatic Arthritis In German Patients”. BMC Med. Genet.18.1 (2017): 92. Print.
  • Huan, T. et al. “A Whole-Blood Transcriptome Meta-Analysis Identifies Gene Expression Signatures Of Cigarette Smoking”. Hum. Mol. Genet.25.21 (2016): 4611--4623. Print.
  • Weiss, F. U. et al. “Abo Blood Type B And Fucosyltransferase 2 Non-Secretor Status As Genetic Risk Factors For Chronic Pancreatitis”. Gut65.2 (2016): 353--354. Print.
  • Teumer, A. et al. “Analyzing Illumina Gene Expression Microarray Data Obtained From Human Whole Blood Cell And Blood Monocyte Samples”. Methods Mol. Biol.1368 (2016): 85--97. Print.
  • Schick, U. M. et al. “Genome-Wide Association Study Of Platelet Count Identifies Ancestry-Specific Loci In Hispanic/Latino Americans”. Am. J. Hum. Genet.98.2 (2016): 229--242. Print.
  • Lessard, S. et al. “Testing The Role Of Predicted Gene Knockouts In Human Anthropometric Trait Variation”. Hum. Mol. Genet.25.10 (2016): 2082--2092. Print.
  • Teumer, A. et al. “Genomewide Meta-Analysis Identifies Loci Associated With Igf-I And Igfbp-3 Levels With Impact On Age-Related Traits”. Aging Cell15.5 (2016): 811--824. Print.
  • Eicher, J. D. et al. “Platelet-Related Variants Identified By Exomechip Meta-Analysis In 157,293 Individuals”. Am. J. Hum. Genet.99.1 (2016): 40--55. Print.
  • Tajuddin, S. M. et al. “Large-Scale Exome-Wide Association Analysis Identifies Loci For White Blood Cell Traits And Pleiotropy With Immune-Mediated Diseases”. Am. J. Hum. Genet.99.1 (2016): 22--39. Print.
  • Shrine, N. et al. “Genome-Wide Association Study Of Copy Number Variation With Lung Function Identifies A Novel Signal Of Association Near Banp For Forced Vital Capacity”. BMC Genet.17.1 (2016): 116. Print.
  • Gheorghe, M. et al. “Blood Rna Expression Profiles Undergo Major Changes During The Seventh Decade”. Oncotarget7.44 (2016): 71353--71361. Print.
  • Chami, N. et al. “Exome Genotyping Identifies Pleiotropic Variants Associated With Red Blood Cell Traits”. Am. J. Hum. Genet.99.1 (2016): 8--21. Print.
  • Huffman, J. E. et al. “Modulation Of Genetic Associations With Serum Urate Levels By Body-Mass-Index In Humans”. PLoS ONE10.3 (2015): e0119752. Print.
  • Weiss, F. U. et al. “Fucosyltransferase 2 (Fut2) Non-Secretor Status And Blood Group B Are Associated With Elevated Serum Lipase Activity In Asymptomatic Subjects, And An Increased Risk For Chronic Pancreatitis: A Genetic Association Study”. Gut64.4 (2015): 646--656. Print.
  • Pietzner, M. et al. “Translating Pharmacological Findings From Hypothyroid Rodents To Euthyroid Humans: Is There A Functional Role Of Endogenous 3,5-T2?”. Thyroid25.2 (2015): 188--197. Print.
  • Wessel, J. et al. “Low-Frequency And Rare Exome Chip Variants Associate With Fasting Glucose And Type 2 Diabetes Susceptibility”. Nat Commun6 (2015): 5897. Print.
  • Jin, P. et al. “A Functional Brain-Derived Neurotrophic Factor (Bdnf) Gene Variant Increases The Risk Of Moderate-To-Severe Allergic Rhinitis”. J. Allergy Clin. Immunol.135.6 (2015): 1486--1493. Print.
  • Huan, T. et al. “A Meta-Analysis Of Gene Expression Signatures Of Blood Pressure And Hypertension”. PLoS Genet.11.3 (2015): e1005035. Print.
  • Westra, H. J. et al. “Cell Specific Eqtl Analysis Without Sorting Cells”. PLoS Genet.11.5 (2015): e1005223. Print.
  • Lal, D. et al. “Burden Analysis Of Rare Microdeletions Suggests A Strong Impact Of Neurodevelopmental Genes In Genetic Generalised Epilepsies”. PLoS Genet.11.5 (2015): e1005226. Print.
  • Sendler, M. et al. “Complement Component 5 Mediates Development Of Fibrosis, Via Activation Of Stellate Cells, In 2 Mouse Models Of Chronic Pancreatitis”. Gastroenterology149.3 (2015): 765--776. Print.
  • Joshi, P. K. et al. “Directional Dominance On Stature And Cognition In Diverse Human Populations”. Nature523.7561 (2015): 459--462. Print.
  • Homuth, G. et al. “Extensive Alterations Of The Whole-Blood Transcriptome Are Associated With Body Mass Index: Results Of An Mrna Profiling Study Involving Two Large Population-Based Cohorts”. BMC Med Genomics8 (2015): 65. Print.
  • Peters, M. J. et al. “The Transcriptional Landscape Of Age In Human Peripheral Blood”. Nat Commun6 (2015): 8570. Print.
  • Haring, R. et al. “Associations Between Serum Sex Hormone Concentrations And Whole Blood Gene Expression Profiles In The General Population”. PLoS ONE10.5 (2015): e0127466. Print.
  • Ghanbari, M. et al. “A Genetic Variant In The Seed Region Of Mir-4513 Shows Pleiotropic Effects On Lipid And Glucose Homeostasis, Blood Pressure, And Coronary Artery Disease”. Hum. Mutat.35.12 (2014): 1524--1531. Print.
  • Schulte, E. C. et al. “Blood Cis-Eqtl Analysis Fails To Identify Novel Association Signals Among Sub-Threshold Candidates From Genome-Wide Association Studies In Restless Legs Syndrome”. PLoS ONE9.5 (2014): e98092. Print.
  • Thorns, C. et al. “Global Microrna Profiling Of Pancreatic Neuroendocrine Neoplasias”. Anticancer Res.34.5 (2014): 2249--2254. Print.
  • Schramm, K. et al. “Mapping The Genetic Architecture Of Gene Regulation In Whole Blood”. PLoS ONE9.4 (2014): e93844. Print.
  • M?ller, R. S. et al. “Exon-Disrupting Deletions Of Nrxn1 In Idiopathic Generalized Epilepsy”. Epilepsia54.2 (2013): 256--264. Print.
  • Mehta, D. et al. “Impact Of Common Regulatory Single-Nucleotide Variants On Gene Expression Profiles In Whole Blood”. Eur. J. Hum. Genet.21.1 (2013): 48--54. Print.
  • Kottgen, A. et al. “Genome-Wide Association Analyses Identify 18 New Loci Associated With Serum Urate Concentrations”. Nat. Genet.45.2 (2013): 145--154. Print.
  • Westra, H. J. et al. “Systematic Identification Of Trans Eqtls As Putative Drivers Of Known Disease Associations”. Nat. Genet.45.10 (2013): 1238--1243. Print.
  • Walters, R. G. et al. “Rare Genomic Structural Variants In Complex Disease: Lessons From The Replication Of Associations With Obesity”. PLoS ONE8.3 (2013): e58048. Print.
  • Pfortner, H. et al. “A Proteomics Workflow For Quantitative And Time-Resolved Analysis Of Adaptation Reactions Of Internalized Bacteria”. Methods61.3 (2013): 244--250. Print.
  • Mayerle, J. et al. “Identification Of Genetic Loci Associated With Helicobacter Pylori Serologic Status”. JAMA309.18 (2013): 1912--1920. Print.
  • O'Seaghdha, C. M. et al. “Meta-Analysis Of Genome-Wide Association Studies Identifies Six New Loci For Serum Calcium Concentrations”. PLoS Genet.9.9 (2013): e1003796. Print.
  • Schurmann, C. et al. “Analyzing Illumina Gene Expression Microarray Data From Different Tissues: Methodological Aspects Of Data Analysis In The Metaxpress Consortium”. PLoS ONE7.12 (2012): e50938. Print.
  • Liu, F. et al. “A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology In Europeans”. PLoS Genet.8.9 (2012): e1002932. Print.
  • Okada, Y. et al. “Meta-Analysis Identifies Multiple Loci Associated With Kidney Function-Related Traits In East Asian Populations”. Nat. Genet.44.8 (2012): 904--909. Print.
  • Michalik, S. et al. “Life And Death Of Proteins: A Case Study Of Glucose-Starved Staphylococcus Aureus”. Mol. Cell Proteomics11.9 (2012): 558--570. Print.
  • Jacquemont, S. et al. “Mirror Extreme Bmi Phenotypes Associated With Gene Dosage At The Chromosome 16P11.2 Locus”. Nature478.7367 (2011): 97--102. Print.