Sex differences in the genetic architecture of dilated cardiomyopathy
| Title: | Sex differences in the genetic architecture of dilated cardiomyopathy |
|---|---|
| Authors: | Mangino, Massimo; McGurk, Kathryn; Theotokis, Pantazis; Buchan, Rachel; Stockwell, Clare; Thami, Prisca; Jennings, Emma; Wan, Elaine; Enright, Catherine; Adlan, Ahmed; Akbari, Tamim; Baksi, John; Barton, Paul J. R.; Berry, Colin; Carr-White, Gerry; Chiribiri, Amedeo; Cooper, Robert; Dattani, Abhishek; Flett, Andrew S.; Gardner, Roy; Greenwood, John; Halliday, Brian; Hammersley, Daniel; Hutchings, David; Mahmod, Masliza; Marrow, Benjamin; McCann, Gerry; Motwani, Manish; Neubauer, Stefan; P O'Regan, Declan; Page, Stephen; Pantazis, Antonis; Peebles, Charles; Raman, Betty; Swoboda, Peter P; Varnava, Amanda; Venetucci, Luigi; Watkins, Hugh; Wright, David; Prasad, Sanjay; Cook, Stuart A.; Ware, James S.; Tayal, Upasana |
| Source: | Mangino, M, McGurk, K, Theotokis, P, Buchan, R, Stockwell, C, Thami, P, Jennings, E, Wan, E, Enright, C, Adlan, A, Akbari, T, Baksi, J, Barton, P J R, Berry, C, Carr-White, G, Chiribiri, A, Cooper, R, Dattani, A, Flett, A S, Gardner, R, Greenwood, J, Halliday, B, Hammersley, D, Hutchings, D, Mahmod, M, Marrow, B, McCann, G, Motwani, M, Neubauer, S, P O'Regan, D, Page, S, Pantazis, A, Peebles, C, Raman, B, Swoboda, P P, Varnava, A, Venetucci, L, Watkins, H, Wright, D, Prasad, S, Cook, S A, Ware, J S & Tayal, U 2025, 'Sex differences in the .... |
| Publication Year: | 2025 |
| Collection: | The University of Manchester: Research Explorer - Publications |
| Description: | Dilated cardiomyopathy (DCM) has a monogenic etiology in up to one-third of cases.1 It appears to affect twice as many men compared with women. This sex difference is observed in both monogenic autosomal cases and DCM without an identified monogenic cause. This could be because of ascertainment bias, eg, differences in diagnostic criteria, or sex differences in disease susceptibility, with men at risk or women protected. It is not known whether specific genetic subtypes manifest sex differences in penetrance. We have extensively characterized the genetic architecture of DCM.2,3 In this study, we investigated whether there are sex differences in the underlying genetic architecture of DCM, indicating gene-specific influences of sex on disease susceptibility. |
| Document Type: | article in journal/newspaper |
| File Description: | application/pdf |
| Language: | English |
| ISSN: | 1558-3597 |
| Relation: | info:eu-repo/semantics/altIdentifier/pissn/1558-3597; info:eu-repo/semantics/altIdentifier/eissn/1558-3597 |
| DOI: | 10.1016/j.jacc.2025.04.068 |
| Availability: | https://research.manchester.ac.uk/en/publications/a76ab727-75e8-480f-8021-f9fee33960f6; https://doi.org/10.1016/j.jacc.2025.04.068; https://pure.manchester.ac.uk/ws/files/485434585/JACC_authoraccepted.pdf |
| Rights: | info:eu-repo/semantics/openAccess ; http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: | edsbas.3E650C0F |
| Database: | BASE |