Sex Differences in the Genetic Causes of Dilated Cardiomyopathy
journal contribution
posted on 2025-10-27, 16:33 authored by M Mangino, KA McGurk, P Theotokis, RJ Buchan, CR Stockwell, PK Thami, E Jennings, E Wan, C Enright, A Adlan, T Akbari, J Baksi, PJR Barton, C Berry, G Carr-White, A Chiribiri, R Cooper, A Dattani, AS Flett, RS Gardner, JP Greenwood, BP Halliday, DJ Hammersley, DC Hutchings, M Mahmod, B Marrow, Gerald McCannGerald McCann, M Motwani, S Neubauer, DP O’ Regan, SP Page, A Pantazis, C Peebles, B Raman, PP Swoboda, A Varnava, L Venetucci, H Watkins, D Wright, SK Prasad, SA Cook, JS Ware, U Tayal<p dir="ltr">Dilated cardiomyopathy (DCM) has a monogenic aetiology in up to a third of cases1. It appears to affect twice as many males compared to females. This sex difference is observed in both monogenic autosomal cases and DCM without an identified monogenic cause. This could be due to ascertainment bias, e.g. differences in diagnostic criteria, or sex differences in disease susceptibility, with males at risk or females protected. It is not known whether specific genetic subtypes manifest sex-differences in penetrance. We have extensively characterised the genetic architecture of DCM2, 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.</p>
History
Author affiliation
University of Leicester College of Life Sciences Medical SciencesVersion
- AM (Accepted Manuscript)
