Evidence map›Paper›PMID 40240483›Full record

SynthesisScientific reports2025

Rare genetic variants involved in increased risk of paroxysmal atrial fibrillation in a Japanese population.

Kanji Tabata, Takeaki Sudo, Yuki Nagata, Kensuke Ihara, Ken Asada, Atsuhiro Kinoshita, Yasuaki Tanaka, Yasuteru Yamauchi, Takeshi Sasaki, Hitoshi Hachiya and 6 more

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Kanji TabataDepartment of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo (Science Tokyo), 2-12-1 Ookayama, Meguro-ku, Tokyo, 152-8550, Japan.
Takeaki SudoDepartment of Educational Media Development, Institute of Science Tokyo (Science Tokyo), Tokyo, Japan.
Yuki NagataDepartment of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo (Science Tokyo), 2-12-1 Ookayama, Meguro-ku, Tokyo, 152-8550, Japan.
Kensuke IharaDepartment of Bio-Informational Pharmacology, Medicine Research Institute, Institute of Science Tokyo (Science Tokyo), Tokyo, Japan.
Ken AsadaCancer Translational Research Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.
Atsuhiro KinoshitaDepartment of Educational Media Development, Institute of Science Tokyo (Science Tokyo), Tokyo, Japan.
Yasuaki TanakaDepartment of Cardiology, Yokosuka Kyosai Hospital, Yokosuka, Japan.
Yasuteru YamauchiDepartment of Cardiology, Yokohama City Minato Red Cross Hospital, Yokohama, Japan.
Takeshi SasakiDepartment of Cardiology, Heart Rhythm Center, National Hospital Organization Disaster Medical Center, Tokyo, Japan.
Hitoshi HachiyaCardiology Division, Cardiovascular Center, Tsuchiura Kyodo General Hospital, Ibaraki, Japan.
Yasushi ImaiDivision of Clinical Pharmacology, Department of Pharmacology, Jichi Medical University, Tochigi, Japan.
Hideo FujitaDivision of Cardiovascular Medicine, Saitama Medical Center, Jichi Medical University, Saitama, Japan.
Tetsuo SasanoDepartment of Cardiovascular Medicine, Institute of Science Tokyo (Science Tokyo), Tokyo, Japan.
Tetsushi FurukawaDepartment of Bio-Informational Pharmacology, Medicine Research Institute, Institute of Science Tokyo (Science Tokyo), Tokyo, Japan.
Takanori IwataDepartment of Periodontology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo (Science Tokyo), Tokyo, Japan.
Toshihiro TanakaDepartment of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo (Science Tokyo), 2-12-1 Ookayama, Meguro-ku, Tokyo, 152-8550, Japan. ttana.brc@tmd.ac.jp.ORCID https://orcid.org/0000-0001-6201-9784

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Atrial fibrillation (AF) is the most prevalent arrhythmia in the world and can cause serious complications such as stroke or heart failure. Paroxysmal atrial fibrillation (PAF), a subtype of AF, accounts for approximately 25% of AF cases and is estimated to affect approximately 30 million people worldwide. Despite extensive genetic research on AF, the genetic factors involved in PAF in East Asian (EAS) populations remain unidentified. The aim of our study was to identify genetic factors associated with PAF in the Japanese population, contributing to our understanding of the genetic architecture of AF in Japanese populations. We conducted whole-exome sequencing on a cohort of 1176 PAF individuals and 1172 non-PAF control subjects in a Japanese population. We processed the sequencing data in accordance with the best practices outlined in the Genome Analysis Toolkit (GATK) and conducted gene-based association tests under three variant grouping strategies (masks) using the burden test, SKAT, and SKAT-O. We then performed a meta-analysis of the resulting P-values, which revealed that four genes-ZNF785, SMPD3, GFRA4, and LGALS1-were significantly associated with PAF, representing novel findings. These findings provide new insights into PAF pathogenesis and suggest potential biomarkers for early detection.

Indexed as

Atrial FibrillationGenetic Predisposition to DiseaseGenetic VariationAgedCase-Control StudiesEast Asian PeopleExome SequencingFemaleHumansJapanMaleMiddle AgedPolymorphism, Single NucleotideRisk FactorsExome sequencingGene-based testsJapanese populationParoxysmal atrial fibrillation

Identifiers

PMID40240483
PMCPMC12003908

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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 Socratic graph.