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Dataset Information

Characterising heart rhythm abnormalities associated with Xp22.31 deletion.


ABSTRACT:

Background

Genetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is associated with elevated thrombosis, heart failure, stroke and dementia risk.

Methods

Through: (a) examining deletion carriers with a diagnosis of AF in UK Biobank, (b) undertaking an online survey regarding abnormal heart rhythms (AHRs) in men/boys with XLI and female carriers of XLI-associated deletions and (c) screening for association between common genetic variants within Xp22.31 and idiopathic AF-related conditions in UK Biobank, we have investigated how AHRs manifest in deletion carriers, and have identified associated risk factors/comorbidities and candidate gene(s). Fina

SUBMITTER: Wren G 

PROVIDER: S-EPMC10359567 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature