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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003834naa a2200469 4500
001oai:lup.lub.lu.se:436b1a55-d588-45bc-bae8-0ba219936e63
003SwePub
008221026s2022 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/436b1a55-d588-45bc-bae8-0ba219936e632 URI
0247 a https://doi.org/10.1038/s41467-022-30921-42 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 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
2451 0a Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci
264 c 2022-06-09
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Skotte, Lineu Danish Serum Institute, Copenhagen4 aut
7001 a Karjalainen, Juhau Massachusetts General Hospital,University of Helsinki,Broad Institute4 aut
7001 a Abner, Eriku University of Tartu4 aut
7001 a Sørensen, Eriku Copenhagen University Hospital4 aut
7001 a Ullum, Henriku Danish Serum Institute, Copenhagen,Copenhagen University Hospital4 aut
7001 a Werge, Thomasu University of Copenhagen4 aut
7001 a Esko, Tõnuu University of Tartu4 aut
7001 a Milani, Liliu University of Tartu4 aut
7001 a Palotie, Aarnou University of Helsinki,Broad Institute,Massachusetts General Hospital4 aut0 (Swepub:lu)med-aop
7001 a Daly, Marku University of Helsinki,Broad Institute4 aut0 (Swepub:lu)med-mkd
7001 a Melbye, Madsu Norwegian University of Science and Technology,Stanford University School of Medicine,University of Copenhagen,Norwegian Institute of Public Health4 aut
7001 a Feenstra, Bjarkeu Danish Serum Institute, Copenhagen4 aut
7001 a Geller, Franku Danish Serum Institute, Copenhagen4 aut
7102 a Translationell muskelforskningb Forskargrupper vid Lunds universitet4 org
7102 a iPSYCH Group
7102 a FinnGen Consortium
7730 t Nature Communicationsd : Springer Science and Business Media LLCg 13:1q 13:1x 2041-1723
8564 u http://dx.doi.org/10.1038/s41467-022-30921-4x freey FULLTEXT
8564 8u https://lup.lub.lu.se/record/436b1a55-d588-45bc-bae8-0ba219936e63
8564 8u https://doi.org/10.1038/s41467-022-30921-4

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