Evidence map›Paper›PMID 39152105›Full record

ArticleHuman genome variation2024

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.

Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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.

Shusuke YagiDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan. syagi@tokushima-u.ac.jp.
Ryosuke MiyamotoDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Masayoshi TasakiDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Hiroyuki MorinoDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID http://orcid.org/0000-0002-5190-3547
Ryuji OtaniDepartment of Cardiology, Tokushima Red Cross Hospital, Tokushima, Japan.
Muneyuki KadotaDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Takayuki IseDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Hiroki YamazakiDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Kenya KusunoseDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Koji YamaguchiDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Hirotsugu YamadaDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Takeshi SoekiDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Tetsuzo WakatsukiDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Daiju FukudaDepartment of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
Mitsuharu UedaDepartment of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Masataka SataDepartment of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.

Identifiers

PMID39152105
PMCPMC11329782

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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.