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

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci. / Fadista, Joao; Skotte, Line; Karjalainen, Juha; Abner, Erik; Sørensen, Erik; Ullum, Henrik; Werge, Thomas; Esko, Tõnu; Milani, Lili; Palotie, Aarno; Daly, Mark; Melbye, Mads; Feenstra, Bjarke; Geller, Frank; IPSYCH Grp; FinnGen Consortium.

In: Nature Communications, Vol. 13, 3200, 2022.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Fadista, J, Skotte, L, Karjalainen, J, Abner, E, Sørensen, E, Ullum, H, Werge, T, Esko, T, Milani, L, Palotie, A, Daly, M, Melbye, M, Feenstra, B, Geller, F, IPSYCH Grp & FinnGen Consortium 2022, 'Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci', Nature Communications, vol. 13, 3200. https://doi.org/10.1038/s41467-022-30921-4

APA

Fadista, J., Skotte, L., Karjalainen, J., Abner, E., Sørensen, E., Ullum, H., Werge, T., Esko, T., Milani, L., Palotie, A., Daly, M., Melbye, M., Feenstra, B., Geller, F., IPSYCH Grp, & FinnGen Consortium (2022). Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci. Nature Communications, 13, [3200]. https://doi.org/10.1038/s41467-022-30921-4

Vancouver

Fadista J, Skotte L, Karjalainen J, Abner E, Sørensen E, Ullum H et al. Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci. Nature Communications. 2022;13. 3200. https://doi.org/10.1038/s41467-022-30921-4

Author

Fadista, Joao ; Skotte, Line ; Karjalainen, Juha ; Abner, Erik ; Sørensen, Erik ; Ullum, Henrik ; Werge, Thomas ; Esko, Tõnu ; Milani, Lili ; Palotie, Aarno ; Daly, Mark ; Melbye, Mads ; Feenstra, Bjarke ; Geller, Frank ; IPSYCH Grp ; FinnGen Consortium. / Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci. In: Nature Communications. 2022 ; Vol. 13.

Bibtex

@article{a3534a5bd5ba46f8942efa0e5995ec7d,
title = "Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci",
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.Hernias involve protrusion of an organ or tissue through its surrounding cavity. Here the authors carry out GWAS for five types of hernia and find 81 variants, most of which are associated with inguinal hernia; downstream analysis suggests an important role for connective tissue morphology.",
keywords = "LD SCORE REGRESSION, MENDELIAN RANDOMIZATION, INGUINAL-HERNIA, HAPLOTYPE, INFERENCE, GENOTYPE",
author = "Joao Fadista and Line Skotte and Juha Karjalainen and Erik Abner and Erik S{\o}rensen and Henrik Ullum and Thomas Werge and T{\~o}nu Esko and Lili Milani and Aarno Palotie and Mark Daly and Mads Melbye and Bjarke Feenstra and Frank Geller and {IPSYCH Grp} and {FinnGen Consortium}",
year = "2022",
doi = "10.1038/s41467-022-30921-4",
language = "English",
volume = "13",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

AU - Fadista, Joao

AU - Skotte, Line

AU - Karjalainen, Juha

AU - Abner, Erik

AU - Sørensen, Erik

AU - Ullum, Henrik

AU - Werge, Thomas

AU - Esko, Tõnu

AU - Milani, Lili

AU - Palotie, Aarno

AU - Daly, Mark

AU - Melbye, Mads

AU - Feenstra, Bjarke

AU - Geller, Frank

AU - IPSYCH Grp

AU - FinnGen Consortium

PY - 2022

Y1 - 2022

N2 - 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.Hernias involve protrusion of an organ or tissue through its surrounding cavity. Here the authors carry out GWAS for five types of hernia and find 81 variants, most of which are associated with inguinal hernia; downstream analysis suggests an important role for connective tissue morphology.

AB - 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.Hernias involve protrusion of an organ or tissue through its surrounding cavity. Here the authors carry out GWAS for five types of hernia and find 81 variants, most of which are associated with inguinal hernia; downstream analysis suggests an important role for connective tissue morphology.

KW - LD SCORE REGRESSION

KW - MENDELIAN RANDOMIZATION

KW - INGUINAL-HERNIA

KW - HAPLOTYPE

KW - INFERENCE

KW - GENOTYPE

U2 - 10.1038/s41467-022-30921-4

DO - 10.1038/s41467-022-30921-4

M3 - Journal article

C2 - 35680855

VL - 13

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

M1 - 3200

ER -

ID: 312335950