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Genetic variant eff...
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D
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- Viñuela, Ana (author)
- University of Geneva Medical School
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- Varshney, Arushi (author)
- Western Michigan University
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- van de Bunt, Martijn (author)
- Oxford University Press
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- Prasad, Rashmi B (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Asplund, Olof (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Bennett, Amanda (author)
- Oxford University Press
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- Boehnke, Michael (author)
- Western Michigan University
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- Brown, Andrew A (author)
- University of Geneva Medical School
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- Erdos, Michael R (author)
- National Institutes Of Health Clinical Center
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- Fadista, João (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital,Danish Serum Institute, Copenhagen
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- Hansson, Ola (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Institute for Molecular Medicine Finland (FIMM),Skåne University Hospital
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- Hatem, Gad (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Howald, Cédric (author)
- University of Geneva Medical School
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- Iyengar, Apoorva K (author)
- North Carolina State University
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- Johnson, Paul (author)
- Oxford University Press
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- Krus, Ulrika (author)
- Lund University,Lunds universitet,Diabetes - öpatofysiologi,Forskargrupper vid Lunds universitet,Diabetes - Islet Patophysiology,Lund University Research Groups,Skåne University Hospital
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- MacDonald, Patrick E (author)
- University of Alberta,University of Alberta Hospital
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- Mahajan, Anubha (author)
- Oxford University Press
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- Manning Fox, Jocelyn E (author)
- University of Alberta Hospital
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- Narisu, Narisu (author)
- National Institutes Of Health Clinical Center
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- Nylander, Vibe (author)
- Oxford University Press
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- Orchard, Peter (author)
- Western Michigan University
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- Oskolkov, Nikolay (author)
- Skåne University Hospital
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- Panousis, Nikolaos I (author)
- University of Geneva Medical School
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- Payne, Anthony (author)
- Oxford University Press
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- Stitzel, Michael L (author)
- University of Connecticut
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- Vadlamudi, Swarooparani (author)
- North Carolina State University
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- Welch, Ryan (author)
- Western Michigan University
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- Collins, Francis S (author)
- National Institutes Of Health Clinical Center
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- Mohlke, Karen L (author)
- North Carolina State University
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- Gloyn, Anna L (author)
- Oxford University Press
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- Scott, Laura J (author)
- Western Michigan University
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- Dermitzakis, Emmanouil T (author)
- University of Geneva Medical School
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- Groop, Leif (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital,Institute for Molecular Medicine Finland (FIMM)
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- Parker, Stephen C J (author)
- Western Michigan University
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- McCarthy, Mark I (author)
- Oxford University Press
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(creator_code:org_t)
- 2020-09-30
- 2020
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4912-4912
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http://dx.doi.org/10... (free)
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Abstract
Subject headings
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- Most signals detected by genome-wide association studies map to non-coding sequence and their tissue-specific effects influence transcriptional regulation. However, key tissues and cell-types required for functional inference are absent from large-scale resources. Here we explore the relationship between genetic variants influencing predisposition to type 2 diabetes (T2D) and related glycemic traits, and human pancreatic islet transcription using data from 420 donors. We find: (a) 7741 cis-eQTLs in islets with a replication rate across 44 GTEx tissues between 40% and 73%; (b) marked overlap between islet cis-eQTL signals and active regulatory sequences in islets, with reduced eQTL effect size observed in the stretch enhancers most strongly implicated in GWAS signal location; (c) enrichment of islet cis-eQTL signals with T2D risk variants identified in genome-wide association studies; and (d) colocalization between 47 islet cis-eQTLs and variants influencing T2D or glycemic traits, including DGKB and TCF7L2. Our findings illustrate the advantages of performing functional and regulatory studies in disease relevant tissues.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
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- art (subject category)
- ref (subject category)
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- By the author/editor
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Viñuela, Ana
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Varshney, Arushi
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van de Bunt, Mar ...
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Prasad, Rashmi B
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Asplund, Olof
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Bennett, Amanda
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show more...
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Boehnke, Michael
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Brown, Andrew A
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Erdos, Michael R
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Fadista, João
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Hansson, Ola
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Hatem, Gad
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Howald, Cédric
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Iyengar, Apoorva ...
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Johnson, Paul
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Krus, Ulrika
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MacDonald, Patri ...
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Mahajan, Anubha
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Manning Fox, Joc ...
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Narisu, Narisu
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Nylander, Vibe
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Orchard, Peter
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Oskolkov, Nikola ...
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Panousis, Nikola ...
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Payne, Anthony
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Stitzel, Michael ...
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Vadlamudi, Swaro ...
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Welch, Ryan
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Collins, Francis ...
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Mohlke, Karen L
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Gloyn, Anna L
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Scott, Laura J
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Dermitzakis, Emm ...
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Groop, Leif
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Parker, Stephen ...
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McCarthy, Mark I
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
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Nature Communica ...
- By the university
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Lund University