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

Fadista, João LU ; Skotte, Line ; Karjalainen, Juha ; Abner, Erik ; Sørensen, Erik ; Ullum, Henrik ; Werge, Thomas ; Esko, Tõnu ; Milani, Lili and Palotie, Aarno LU , et al. (2022) In Nature Communications 13(1).
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... (More)

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.

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type
Contribution to journal
publication status
published
subject
in
Nature Communications
volume
13
issue
1
article number
3200
publisher
Nature Publishing Group
external identifiers
  • scopus:85131705554
  • pmid:35680855
ISSN
2041-1723
DOI
10.1038/s41467-022-30921-4
language
English
LU publication?
yes
id
436b1a55-d588-45bc-bae8-0ba219936e63
date added to LUP
2022-10-26 09:20:18
date last changed
2025-03-21 20:01:21
@article{436b1a55-d588-45bc-bae8-0ba219936e63,
  abstract     = {{<p>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.</p>}},
  author       = {{Fadista, João and Skotte, Line and Karjalainen, Juha and Abner, Erik and Sørensen, Erik and Ullum, Henrik and Werge, Thomas and Esko, Tõnu and Milani, Lili and Palotie, Aarno and Daly, Mark and Melbye, Mads and Feenstra, Bjarke and Geller, Frank}},
  issn         = {{2041-1723}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Nature Communications}},
  title        = {{Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci}},
  url          = {{http://dx.doi.org/10.1038/s41467-022-30921-4}},
  doi          = {{10.1038/s41467-022-30921-4}},
  volume       = {{13}},
  year         = {{2022}},
}