Sökning: WFRF:(Feenstra Bjarke) > Comprehensive genom...
Fältnamn | Indikatorer | Metadata |
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000 | 03834naa a2200469 4500 | |
001 | oai:lup.lub.lu.se:436b1a55-d588-45bc-bae8-0ba219936e63 | |
003 | SwePub | |
008 | 221026s2022 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/436b1a55-d588-45bc-bae8-0ba219936e632 URI |
024 | 7 | a https://doi.org/10.1038/s41467-022-30921-42 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Fadista, Joãou Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Danish Serum Institute, Copenhagen,University of Helsinki4 aut0 (Swepub:lu)med-jft |
245 | 1 0 | a Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci |
264 | c 2022-06-09 | |
264 | 1 | b Springer Science and Business Media LLC,c 2022 |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Skotte, Lineu Danish Serum Institute, Copenhagen4 aut |
700 | 1 | a Karjalainen, Juhau Massachusetts General Hospital,University of Helsinki,Broad Institute4 aut |
700 | 1 | a Abner, Eriku University of Tartu4 aut |
700 | 1 | a Sørensen, Eriku Copenhagen University Hospital4 aut |
700 | 1 | a Ullum, Henriku Danish Serum Institute, Copenhagen,Copenhagen University Hospital4 aut |
700 | 1 | a Werge, Thomasu University of Copenhagen4 aut |
700 | 1 | a Esko, Tõnuu University of Tartu4 aut |
700 | 1 | a Milani, Liliu University of Tartu4 aut |
700 | 1 | a Palotie, Aarnou University of Helsinki,Broad Institute,Massachusetts General Hospital4 aut0 (Swepub:lu)med-aop |
700 | 1 | a Daly, Marku University of Helsinki,Broad Institute4 aut0 (Swepub:lu)med-mkd |
700 | 1 | a Melbye, Madsu Norwegian University of Science and Technology,Stanford University School of Medicine,University of Copenhagen,Norwegian Institute of Public Health4 aut |
700 | 1 | a Feenstra, Bjarkeu Danish Serum Institute, Copenhagen4 aut |
700 | 1 | a Geller, Franku Danish Serum Institute, Copenhagen4 aut |
710 | 2 | a Translationell muskelforskningb Forskargrupper vid Lunds universitet4 org |
710 | 2 | a iPSYCH Group |
710 | 2 | a FinnGen Consortium |
773 | 0 | t Nature Communicationsd : Springer Science and Business Media LLCg 13:1q 13:1x 2041-1723 |
856 | 4 | u http://dx.doi.org/10.1038/s41467-022-30921-4x freey FULLTEXT |
856 | 4 8 | u https://lup.lub.lu.se/record/436b1a55-d588-45bc-bae8-0ba219936e63 |
856 | 4 8 | u https://doi.org/10.1038/s41467-022-30921-4 |
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