Nature Communications (Sep 2020)
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D
- Ana Viñuela,
- Arushi Varshney,
- Martijn van de Bunt,
- Rashmi B. Prasad,
- Olof Asplund,
- Amanda Bennett,
- Michael Boehnke,
- Andrew A. Brown,
- Michael R. Erdos,
- João Fadista,
- Ola Hansson,
- Gad Hatem,
- Cédric Howald,
- Apoorva K. Iyengar,
- Paul Johnson,
- Ulrika Krus,
- Patrick E. MacDonald,
- Anubha Mahajan,
- Jocelyn E. Manning Fox,
- Narisu Narisu,
- Vibe Nylander,
- Peter Orchard,
- Nikolay Oskolkov,
- Nikolaos I. Panousis,
- Anthony Payne,
- Michael L. Stitzel,
- Swarooparani Vadlamudi,
- Ryan Welch,
- Francis S. Collins,
- Karen L. Mohlke,
- Anna L. Gloyn,
- Laura J. Scott,
- Emmanouil T. Dermitzakis,
- Leif Groop,
- Stephen C. J. Parker,
- Mark I. McCarthy
Affiliations
- Ana Viñuela
- Department of Genetic Medicine and Development, University of Geneva Medical School
- Arushi Varshney
- Department of Human Genetics, University of Michigan
- Martijn van de Bunt
- Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford
- Rashmi B. Prasad
- Lund University Diabetes Centre, Department of Clinical Sciences, Lund University, Skåne University Hospital
- Olof Asplund
- Lund University Diabetes Centre, Department of Clinical Sciences, Lund University, Skåne University Hospital
- Amanda Bennett
- Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford
- Michael Boehnke
- Department of Biostatistics and Center for Statistical Genetics, University of Michigan
- Andrew A. Brown
- Department of Genetic Medicine and Development, University of Geneva Medical School
- Michael R. Erdos
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
- João Fadista
- Lund University Diabetes Centre, Department of Clinical Sciences, Lund University, Skåne University Hospital
- Ola Hansson
- Lund University Diabetes Centre, Department of Clinical Sciences, Lund University, Skåne University Hospital
- Gad Hatem
- Lund University Diabetes Centre, Department of Clinical Sciences, Lund University, Skåne University Hospital
- Cédric Howald
- Department of Genetic Medicine and Development, University of Geneva Medical School
- Apoorva K. Iyengar
- Department of Genetics, University of North Carolina
- Paul Johnson
- Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford
- Ulrika Krus
- Lund University Diabetes Centre, Department of Clinical Sciences, Lund University, Skåne University Hospital
- Patrick E. MacDonald
- Department of Pharmacology and Alberta Diabetes Institute, University of Alberta
- Anubha Mahajan
- Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford
- Jocelyn E. Manning Fox
- Department of Pharmacology and Alberta Diabetes Institute, University of Alberta
- Narisu Narisu
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
- Vibe Nylander
- Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford
- Peter Orchard
- Department of Computational Medicine & Bioinformatics, University of Michigan
- Nikolay Oskolkov
- Lund University Diabetes Centre, Department of Clinical Sciences, Lund University, Skåne University Hospital
- Nikolaos I. Panousis
- Department of Genetic Medicine and Development, University of Geneva Medical School
- Anthony Payne
- Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford
- Michael L. Stitzel
- The Jackson Laboratory for Genomic Medicine
- Swarooparani Vadlamudi
- Department of Genetics, University of North Carolina
- Ryan Welch
- Department of Biostatistics and Center for Statistical Genetics, University of Michigan
- Francis S. Collins
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
- Karen L. Mohlke
- Department of Genetics, University of North Carolina
- Anna L. Gloyn
- Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford
- Laura J. Scott
- Department of Biostatistics and Center for Statistical Genetics, University of Michigan
- Emmanouil T. Dermitzakis
- Department of Genetic Medicine and Development, University of Geneva Medical School
- Leif Groop
- Lund University Diabetes Centre, Department of Clinical Sciences, Lund University, Skåne University Hospital
- Stephen C. J. Parker
- Department of Human Genetics, University of Michigan
- Mark I. McCarthy
- Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford
- DOI
- https://doi.org/10.1038/s41467-020-18581-8
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 14
Abstract
Mechanistic inference following GWAS is hampered by the lack of tissue-specific transcriptomic resources. Here the authors combine genetic variants predisposing to type 2 diabetes with human pancreatic islet RNA-seq data. They identify 7741 islet expression quantitative trait loci (eQTLs), providing a resource for functional interpretation of association signals mapping to non-coding sequence.
