ArticleThe Canadian journal of cardiology2026
Identification of a Novel Genetic Variant Responsible for Familial Atrial Fibrillation.
Article in The Canadian journal of cardiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
Abstract
backgroundAtrial fibrillation (AF) is the most common cardiac arrhythmia. Although familial AF frequently follows an autosomal dominant inheritance pattern, the genetic mechanisms remain incompletely defined. We sought to identify the causal variant within a previously established linkage region on chromosome 10q22-q24.
methodsAdditional recombination events and fine mapping reduced the original linkage interval to 0.8 Mb. Targeted sequencing of the locus was performed in affected and unaffected family members. Patient-specific human induced pluripotent stem cells (hiPSCs) were differentiated into atrial cardiomyocytes to assess gene expression and ion channel function.
resultsRefinement of the locus identified 3 genes (KCNMA1; DLG5; and POLR3A). A novel 15-kb tandem duplication within intron 1 of KCNMA1 segregated with disease in 6 families and was absent in controls and population databases. Patient-derived hiPSC atrial cardiomyocytes demonstrated reduced KCNMA1 and POLR3A mRNA and protein expression, accompanied by decreased paxilline-sensitive outward current.
conclusionWe identified a rare intronic structural variant in KCNMA1 associated with familial AF. The variant segregates with disease and is associated with reduced KCNMA1 expression and large-conductance calcium- and voltage-activated K
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.