Sex differences in the genetic architecture of dilated cardiomyopathy

Massimo Mangino; Kathryn McGurk; Pantazis Theotokis; Rachel Buchan; Clare Stockwell; Prisca Thami; Emma Jennings; Elaine Wan; Catherine Enright; Ahmed Adlan; Tamim Akbari; John Baksi; Paul J. R. Barton; Colin Berry; Gerry Carr-White; Amedeo   Chiribiri; Robert Cooper; Abhishek  Dattani; Andrew S. Flett; Roy Gardner; John Greenwood; Brian Halliday; Daniel Hammersley; David Hutchings; Masliza Mahmod; Benjamin  Marrow; Gerry McCann; Manish Motwani; Stefan Neubauer; Declan P O'Regan; Stephen Page; Antonis Pantazis; Charles Peebles; Betty Raman; Peter P Swoboda; Amanda Varnava; Luigi Venetucci; Hugh Watkins; David Wright; Sanjay  Prasad; Stuart A. Cook; James S. Ware; Upasana  Tayal

doi:10.1016/j.jacc.2025.04.068

Sex differences in the genetic architecture of dilated cardiomyopathy

Massimo Mangino, Kathryn McGurk, Pantazis Theotokis, Rachel Buchan, Clare Stockwell, Prisca Thami, Emma Jennings, Elaine Wan, Catherine Enright, Ahmed Adlan, Tamim Akbari, John Baksi, Paul J. R. Barton, Colin Berry, Gerry Carr-White, Amedeo Chiribiri, Robert Cooper, Abhishek Dattani, Andrew S. Flett, Roy GardnerJohn Greenwood, Brian Halliday, Daniel Hammersley, David Hutchings, Masliza Mahmod, Benjamin Marrow, Gerry McCann, Manish Motwani, Stefan Neubauer, Declan P O'Regan, Stephen Page, Antonis Pantazis, Charles Peebles, Betty Raman, Peter P Swoboda, Amanda Varnava, Luigi Venetucci, Hugh Watkins, David Wright, Sanjay Prasad, Stuart A. Cook, James S. Ware, Upasana Tayal

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Abstract

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.

Original language	English
Pages (from-to)	400-403
Journal	Journal of the American College of Cardiology
Volume	86
Issue number	5
Early online date	28 Jul 2025
DOIs	https://doi.org/10.1016/j.jacc.2025.04.068
Publication status	Published - 5 Aug 2025

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10.1016/j.jacc.2025.04.068

JACC_authoracceptedAccepted author manuscript, 221 KBLicence: CC BY

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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., ... Tayal, U. (2025). Sex differences in the genetic architecture of dilated cardiomyopathy. Journal of the American College of Cardiology, 86(5), 400-403. https://doi.org/10.1016/j.jacc.2025.04.068

@article{a76ab72775e8480f8021f9fee33960f6,

title = "Sex differences in the genetic architecture of dilated cardiomyopathy",

abstract = "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. ",

author = "Massimo Mangino and Kathryn McGurk and Pantazis Theotokis and Rachel Buchan and Clare Stockwell and Prisca Thami and Emma Jennings and Elaine Wan and Catherine Enright and Ahmed Adlan and Tamim Akbari and John Baksi and Barton, \{Paul J. R.\} and Colin Berry and Gerry Carr-White and Amedeo Chiribiri and Robert Cooper and Abhishek Dattani and Flett, \{Andrew S.\} and Roy Gardner and John Greenwood and Brian Halliday and Daniel Hammersley and David Hutchings and Masliza Mahmod and Benjamin Marrow and Gerry McCann and Manish Motwani and Stefan Neubauer and \{P O'Regan\}, Declan and Stephen Page and Antonis Pantazis and Charles Peebles and Betty Raman and Swoboda, \{Peter P\} and Amanda Varnava and Luigi Venetucci and Hugh Watkins and David Wright and Sanjay Prasad and Cook, \{Stuart A.\} and Ware, \{James S.\} and Upasana Tayal",

year = "2025",

month = aug,

day = "5",

doi = "10.1016/j.jacc.2025.04.068",

language = "English",

volume = "86",

pages = "400--403",

journal = "Journal of the American College of Cardiology",

issn = "1558-3597",

publisher = "Elsevier BV",

number = "5",

}

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, PJR, Berry, C, Carr-White, G, Chiribiri, A, Cooper, R, Dattani, A, Flett, AS, 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, PP, Varnava, A, Venetucci, L, Watkins, H, Wright, D, Prasad, S, Cook, SA, Ware, JS & Tayal, U 2025, 'Sex differences in the genetic architecture of dilated cardiomyopathy', Journal of the American College of Cardiology, vol. 86, no. 5, pp. 400-403. https://doi.org/10.1016/j.jacc.2025.04.068

TY - JOUR

T1 - Sex differences in the genetic architecture of dilated cardiomyopathy

AU - Mangino, Massimo

AU - McGurk, Kathryn

AU - Theotokis, Pantazis

AU - Buchan, Rachel

AU - Stockwell, Clare

AU - Thami, Prisca

AU - Jennings, Emma

AU - Wan, Elaine

AU - Enright, Catherine

AU - Adlan, Ahmed

AU - Akbari, Tamim

AU - Baksi, John

AU - Barton, Paul J. R.

AU - Berry, Colin

AU - Carr-White, Gerry

AU - Chiribiri, Amedeo

AU - Cooper, Robert

AU - Dattani, Abhishek

AU - Flett, Andrew S.

AU - Gardner, Roy

AU - Greenwood, John

AU - Halliday, Brian

AU - Hammersley, Daniel

AU - Hutchings, David

AU - Mahmod, Masliza

AU - Marrow, Benjamin

AU - McCann, Gerry

AU - Motwani, Manish

AU - Neubauer, Stefan

AU - P O'Regan, Declan

AU - Page, Stephen

AU - Pantazis, Antonis

AU - Peebles, Charles

AU - Raman, Betty

AU - Swoboda, Peter P

AU - Varnava, Amanda

AU - Venetucci, Luigi

AU - Watkins, Hugh

AU - Wright, David

AU - Prasad, Sanjay

AU - Cook, Stuart A.

AU - Ware, James S.

AU - Tayal, Upasana

PY - 2025/8/5

Y1 - 2025/8/5

N2 - 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.

AB - 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.

U2 - 10.1016/j.jacc.2025.04.068

DO - 10.1016/j.jacc.2025.04.068

M3 - Article

SN - 1558-3597

VL - 86

SP - 400

EP - 403

JO - Journal of the American College of Cardiology

JF - Journal of the American College of Cardiology

IS - 5

ER -

Sex differences in the genetic architecture of dilated cardiomyopathy

Abstract

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