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May 31, 2026Cardiovascular Research

Multiple 4q25 risk variants impair calcium homeostasis and compromise left atrial function

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Why the study?

Chromosomal region 4q25 SNPs are associated with increased AF risk, but their impact on cardiomyocyte and atrial function remains elusive.

Do distinct 4q25 risk variants (rs1448818, rs2200733, rs10033464) differentially affect calcium homeostasis and left atrial function to increase the risk of atrial fibrillation?

Population

391,008 UK Biobank individuals alongside human atrial tissue and myocyte cohorts

Comparison

Carriers of 4q25 risk alleles (rs1448818, rs2200733, rs10033464) vs non-carriers

Design

Observational cohort and translational mechanistic study

Follow-up

10-year period

Key result

Distinct 4q25 risk variants (rs1448818, rs2200733, rs10033464) increased incident AF over 10 years and produced differential alterations in intracellular calcium homeostasis and left atrial function.

Authors

VJVerónica Jiménez-SábadoCTCarmen TarifaOVO B Vad

Discussion

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Overview

May inform SNP-guided AF risk models; leaves open whether tailored strategies improve outcomes.

Key Points

  • This research investigates how specific genetic variants in the 4q25 region affect calcium homeostasis and atrial function.
  • Analyzed data from 391,008 individuals in the UK Biobank over 10 years.
  • Conducted patch-clamp analyses on human atrial myocytes from 66 patients without AF.
  • Performed linear regression analyses of cardiac MRI data from 39,391 individuals.
  • Three risk alleles increased incident atrial fibrillation (AF) in a dose-dependent manner.
  • Carriers of the rs1448818 allele had reduced L-type calcium current, while rs2200733 and rs10033464 showed differential calcium dynamics.
  • Left atrial volume was increased and ejection fraction decreased in rs1448818 or rs2200733 carriers, while rs10033464 carriers exhibited preserved function.

Study Design

Type

Observational (n=391,008)

Structured PICO

Do distinct 4q25 risk variants (rs1448818, rs2200733, rs10033464) differentially affect calcium homeostasis and left atrial function to increase the risk of atrial fibrillation?

P
Population
391,008 individuals from the UK biobank (for incident AF analysis), human atrial myocytes from 66 patients without AF (for patch-clamp), 119 patients (for RyR2 phosphorylation), and 39,391 individuals without AF from the UK biobank (for cardiac MRI).
I
Intervention
Presence of 4q25 risk variants (rs1448818, rs2200733, rs10033464)
C
Comparator
Non-carriers of the respective risk alleles
O
Outcome
Incident AF over 10 years, PITX2C mRNA expression, L-type calcium current (ICaL), transient inward current (ITI) frequency, sarcoplasmic reticulum calcium load, RyR2 phosphorylation, and left atrial volume and active ejection fraction (LAAEF)surrogate

Distinct 4q25 risk variants for atrial fibrillation produce specific alterations in intracellular calcium homeostasis and left atrial function, suggesting genotype-tailored therapeutic strategies may be possible.

Trending Research#4 this week

This research is significant for its genetic insights into atrial fibrillation. By linking specific genetic variants to impaired calcium handling and atrial dysfunction, it provides a more detailed understanding of the molecular mechanisms underlying this common arrhythmia, which could inform future targeted therapies.

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Cite This Study

Jiménez-Sábado et al. (2026) conducted an observational in Atrial fibrillation (n=391,008). 4q25 risk variants (rs1448818, rs2200733, rs10033464) vs. Non-carriers was evaluated on Incident atrial fibrillation, calcium homeostasis alterations, and left atrial function. Distinct 4q25 risk variants (rs1448818, rs2200733, rs10033464) increased incident AF over 10 years and produced differential alterations in intracellular calcium homeostasis and left atrial function.

synapsesocial.com/papers/6a1bd12d5783ba022b6fcbc7https://doi.org/10.1093/cvr/cvag122
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