New study identifies gene which increases risk of heart rhythm abnormalities

Researchers at Cardiff University have linked a missing section of DNA, and a specific gene within it, to the increased risk of developing a heart abnormality.

A new study from researchers in the Division of Psychological Medicine and Clinical Neurosciences and School of Psychology has identified that heart rhythm abnormalities (HRAs) commonly occur in individuals who are missing a small piece of the X chromosome (Xp22.31); further investigation of this region has suggested that the STS (steroid sulfatase) gene may be particularly important in conferring risk. This exciting development holds promise for early identification of HRAs through screening using Smart wearable technology in the high-risk Xp22.31 deletion population.

Is Xp22.31 deletion harmful?

PhD student Georgina Wren, lead researcher on the study, explained: “Some gene deletions are relatively harmless. Others may have a significant impact on the body, resulting in a number of psychological and physical issues. The Xp22.31 contains the STS gene which plays a part in the construction of skin cells."

“Xp22.31 deletion including the STS gene causes skin conditions such as X-linked ichthyosis (XLI) where the cells on the outer layer of the skin do not separate properly and appear in the form of scales.”

This new study, funded by the School of Psychology, also shows that adults with XLI have an increased risk of developing an abnormal heart rhythm (AHR) as well as certain comorbid conditions such as gut problems, asthma, and anaemia.

Risk factors and interventions for heart rhythm abnormalities

The team examined the medical records of half a million middle-aged individuals including some with a diagnosis of atrial fibrillation, a type of HRA which causes an irregular, and often fast, heartbeat. The team further investigated risk factors for abnormal heart rhythm and its comorbidities in an online survey of male and female Xp22.31 deletion carriers, as well as parents of boys diagnosed with the skin condition, XLI.

Xp22.31 deletion was shown to increase the risk of HRA, particularly under stressful conditions; episodes of HRA tended to respond well to interventions and to resolve quickly.

What next?

When discussing the future impact of the study, Wren said, “Individuals in this study were overwhelmingly in favour of attending preventative screening for HRA, which may promote early identification of abnormalities and support long term management for the condition.”

This research holds exciting promise for the investigation of heart screening in deletion carriers, namely using wearable (Smartwatch) technology as well as revealing whether heart rhythms are linked to certain behavioural and cognitive measures.

Read the full paper: Wren et al. (2022) Characterising heart rhythm abnormalities associated with Xp22.31 deletion Journal of Medical Genetics