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Sökning: WFRF:(Gsur A) > Hampe J

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Numrering	Referens	Omslagsbild	Hitta
1.	Fernandez-Rozadilla, C, et al. (författare) Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries 2023 Ingår i: Nature genetics. - 1546-1718. Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
2.	Fernandez-Rozadilla, C, et al. (författare) Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries 2023 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 55:3, s. 519-520 Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
3.	Zheng, TH, et al. (författare) Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease 2021 Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 70:8, s. 1538-1549 Tidskriftsartikel (refereegranskat)abstract Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date.DesignWe conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression in HEM tissues were evaluated employing RNA-seq analyses. The localisation of expressed proteins at selected loci was investigated by immunohistochemistry.ResultsWe demonstrate modest heritability and genetic correlation of HEM with several other diseases from the GI, neuroaffective and cardiovascular domains. HEM PRS validated in 180 435 individuals from independent datasets allowed the identification of those at risk and correlated with younger age of onset and recurrent surgery. We identified 102 independent HEM risk loci harbouring genes whose expression is enriched in blood vessels and GI tissues, and in pathways associated with smooth muscles, epithelial and endothelial development and morphogenesis. Network transcriptomic analyses highlighted HEM gene coexpression modules that are relevant to the development and integrity of the musculoskeletal and epidermal systems, and the organisation of the extracellular matrix.ConclusionHEM has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction.

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Typ av publikation: tidskriftsartikel (3)

Typ av innehåll: övrigt vetenskapligt/konstnärligt (2); refereegranskat (1)

Författare/redaktör: Schafmayer, C (3); Hampe, J (3)Ta bort avgränsningen; Li, L. (2); Duggan, D. (2); Farrington, S. (2); Kim, J. (2); visa fler...; Thomas, D. (2); Reid, S. (2); Pukkala, E (2); Zheng, W. (2); Yen, Y. (2); Brenner, H (2); Joshi, A (2); Larsson, S. (2); Moreno, V (2); Figueiredo, J (2); Lin, Y (2); Moreira, L (2); Walker, M (2); Li, C. (2); Shu, XO (2); Gao, YT (2); Shcherbina, A (2); Castells, A (2); Dunlop, M (2); Lindblom, A (2); Castellvi-Bel, S (2); White, E (2); Wolk, A (2); Papadopoulos, N (2); Edlund, C (2); Kim, A. (2); Kim, DH (2); Matsuo, K (2); Tomlinson, I (2); Arndt, V (2); Chang-Claude, J (2); Schumacher, F (2); Le Marchand, L (2); Harris, S (2); Thomas, M (2); Thomas, S (2); Chan, A (2); Woods, M (2); Prentice, R (2); Knekt, P (2); Casey, G (2); Conti, D (2); Gallinger, S (2); Haile, R (2); visa färre...

Lärosäte: Karolinska Institutet (3)

Språk: Engelska (3)

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