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Comprehensive genom...
Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci
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- Fadista, João (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Danish Serum Institute, Copenhagen,University of Helsinki
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- Skotte, Line (author)
- Danish Serum Institute, Copenhagen
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- Karjalainen, Juha (author)
- Massachusetts General Hospital,University of Helsinki,Broad Institute
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- Abner, Erik (author)
- University of Tartu
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- Sørensen, Erik (author)
- Copenhagen University Hospital
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- Ullum, Henrik (author)
- Danish Serum Institute, Copenhagen,Copenhagen University Hospital
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- Werge, Thomas (author)
- University of Copenhagen
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- Esko, Tõnu (author)
- University of Tartu
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- Milani, Lili (author)
- University of Tartu
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- Palotie, Aarno (author)
- University of Helsinki,Broad Institute,Massachusetts General Hospital
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- Daly, Mark (author)
- University of Helsinki,Broad Institute
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- Melbye, Mads (author)
- Norwegian University of Science and Technology,Stanford University School of Medicine,University of Copenhagen,Norwegian Institute of Public Health
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- Feenstra, Bjarke (author)
- Danish Serum Institute, Copenhagen
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- Geller, Frank (author)
- Danish Serum Institute, Copenhagen
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- 2022-06-09
- 2022
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
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Abstract
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- Hernias are characterized by protrusion of an organ or tissue through its surrounding cavity and often require surgical repair. In this study we identify 65,492 cases for five hernia types in the UK Biobank and perform genome-wide association study scans for these five types and two combined groups. Our results show associated variants in all scans. Inguinal hernia has the most associations and we conduct a follow-up study with 23,803 additional cases from four study groups giving 84 independently associated variants. Identified variants from all scans are collapsed into 81 independent loci. Further testing shows that 26 loci are associated with more than one hernia type, suggesting substantial overlap between the underlying genetic mechanisms. Pathway analyses identify several genes with a strong link to collagen and/or elastin (ADAMTS6, ADAMTS16, ADAMTSL3, LOX, ELN) in the vicinity of associated loci for inguinal hernia, which substantiates an essential role of connective tissue morphology.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Fadista, João
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Skotte, Line
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Karjalainen, Juh ...
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Abner, Erik
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Sørensen, Erik
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Ullum, Henrik
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show more...
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Werge, Thomas
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Esko, Tõnu
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Milani, Lili
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Palotie, Aarno
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Daly, Mark
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Melbye, Mads
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Feenstra, Bjarke
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Geller, Frank
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Communica ...
- By the university
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Lund University