Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

João Fadista, Line Skotte, Juha Karjalainen, Erik Abner, Erik Sørensen, Henrik Ullum, Thomas Werge, Tõnu Esko, Lili Milani, Aarno Palotie, Mark Daly, Mads Melbye, Bjarke Feenstra and Frank Geller ()
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João Fadista: Statens Serum Institut
Line Skotte: Statens Serum Institut
Juha Karjalainen: University of Helsinki
Erik Abner: University of Tartu
Erik Sørensen: Copenhagen University Hospital, Rigshospitalet
Henrik Ullum: Copenhagen University Hospital, Rigshospitalet
Thomas Werge: iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research
Tõnu Esko: University of Tartu
Lili Milani: University of Tartu
Aarno Palotie: University of Helsinki
Mark Daly: University of Helsinki
Mads Melbye: University of Copenhagen
Bjarke Feenstra: Statens Serum Institut
Frank Geller: Statens Serum Institut

Nature Communications, 2022, vol. 13, issue 1, 1-11

Abstract: Abstract 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.

Date: 2022
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DOI: 10.1038/s41467-022-30921-4

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