Evidence map›Paper›PMID 41672494›Full record

ArticleJournal of atherosclerosis and thrombosis2026

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.

Takeshi Okada, Shizuya Yamashita, Hayato Tada, Kazuhisa Tsukamoto, Masako Togo, Masa-Aki Kawashiri, Kimitoshi Nakamura, Kazushige Dobashi, Katsunori Ikewaki, Hiroshi Yoshida and 2 more

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Article in Journal of atherosclerosis and thrombosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Takeshi OkadaDepartment of Cardiovascular Medicine, The University of Osaka Graduate School of Medicine.
Shizuya YamashitaDepartment of Cardiology, Rinku General Medical Center.
Hayato TadaDepartment of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.
Kazuhisa TsukamotoDepartment of Internal Medicine, Teikyo University.
Masako TogoKohjinkai Nakada Hospital.
Masa-Aki KawashiriDepartment of Internal Medicine, Kaga Medical Center.
Kimitoshi NakamuraDepartment of Pediatrics, Kumamoto University Graduate School of Medical Sciences.
Kazushige DobashiDepartment of Pediatrics, School of Medicine, University of Yamanashi.
Katsunori IkewakiCenter for Preventive Medicine, The Jikei University Hospital.
Hiroshi YoshidaDepartment of Laboratory Medicine, The Jikei University Kashiwa Hospital.
Mariko Harada-ShibaCardiovascular Center, Osaka Medical and Pharmaceutical University.
Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimSince comprehensive data on the pathogenic variants of ABCG5 and ABCG8 and clinical features in sitosterolemia remain limited, we aimed to compile a catalog through an extensive literature search of case reports from 2002 to 2024, as well as an evaluation of variants reported in review articles.

methodsWe compiled 155 cases of sitosterolemia from 133 families with nonsynonymous variants in ABCG5 and ABCG8, along with data on clinical information from case reports. Pathogenic variants were defined either as 1) protein-truncating variants, 2) classified as pathogenic or likely pathogenic variants according to the ACMG guidelines, or 3) serum sitosterol level of the case was measured at ≥ 1 mg/dL.

resultsXanthoma was observed in 69.2% of patients, ischemic heart disease in 14.2%, and hematologic abnormalities in 57.9%. Fifty-three variants in ABCG5 and 52 in ABCG8 were evaluated for their pathogenicity, in which 33 in ABCG5 and 29 in ABCG8 were protein-truncating variants. Additionally, based on the ACMG criteria and serum sitosterol levels, 50 variants in ABCG5 and 51 variants in ABCG8 were finally classified as pathogenic. Among them, the frequently observed R446X and R389H in ABCG5 were highly prevalent in East Asians, while W361X and S107X in ABCG8 were predominantly found in Europeans.

conclusionWe provided the largest catalog of clinical features and pathogenic variants of ABCG5 and ABCG8 in the world. This study may help clarify the pathogenicity of variants in ABCG5 and ABCG8 and provide a valuable reference for the genetic diagnosis of sitosterolemia.

Indexed as

ATP Binding Cassette Transporter, Subfamily G, Member 5ATP Binding Cassette Transporter, Subfamily G, Member 8HypercholesterolemiaIntestinal DiseasesLipid Metabolism, Inborn ErrorsLipoproteinsPhytosterolsFemaleHumansMaleMutationSitosterolsABCG5 protein, humanABCG8 protein, humanATP Binding Cassette Transporter, Subfamily G, Member 5ATP Binding Cassette Transporter, Subfamily G, Member 8LipoproteinsPhytosterolsSitosterolsABCG5ABCG8Hematologic abnormalitiesSitosterolemiaXanthoma

Identifiers

PMID41672494
PMCPMC13158039

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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.