{
  "abstract": "BACKGROUND: We aimed to clarify the impact of genetic testing on major adverse cardiovascular events (MACE) among patients with heterozygous familial hypercholesterolemia (HeFH) using data from the Hokuriku-plus FH Registry (UMIN000038210). METHODS AND RESULTS: In all, 431 patients were enrolled in the study, with a median follow-up of 3.9 years. The primary outcome was time to first MACE, defined as cardiovascular death, non-fatal myocardial infarction, coronary revascularization, or non-fatal stroke. Using Cox proportional hazards regression models, we examined whether undergoing genetic testing was associated with a reduced risk of MACE. Among the 431 patients, sufficient data were available for 386 with HeFH, of whom 202 (52.3%) underwent genetic testing. Low-density lipoprotein cholesterol (LDL-C) levels at follow-up were significantly lower in group that underwent genetic testing than in the group that did not (median 102 vs. 130 mg/dL, respectively; P<0.001). During follow-up, 23 MACE occurred (18 in the non-testing group and 5 in the genetic testing group). Notably, undergoing genetic testing was significantly associated with a reduced risk of MACE, even after adjusting for LDL-C levels (hazard ratio 0.66; 95% confidence interval 0.20-0.92; P=0.033). CONCLUSIONS: Genetic testing in patients with HeFH was associated with a reduced risk of MACE independent of LDL-C. Randomized controlled trials will be needed to clarify whether providing genetic testing can reduce MACE among patients with HeFH.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 18,
  "authors": [
    {
      "name": "Hayato Tada"
    },
    {
      "name": "Yasuaki Takeji"
    },
    {
      "name": "Chiaki Goten"
    },
    {
      "name": "Hirofumi Okada"
    },
    {
      "name": "Shohei Yoshida"
    },
    {
      "name": "Masaya Shimojima"
    },
    {
      "name": "Akihiro Nomura"
    },
    {
      "name": "Mika Mori"
    },
    {
      "name": "Shin-ichiro Takashima"
    },
    {
      "name": "Takeshi Kato"
    },
    {
      "name": "Soichiro Usui"
    },
    {
      "name": "Kenji Sakata"
    },
    {
      "name": "Kenshi Hayashi"
    },
    {
      "name": "Noboru Fujino"
    },
    {
      "name": "Katsuhiko Nagase"
    },
    {
      "name": "Masa-aki Kawashiri"
    },
    {
      "name": "Masayuki Takamura"
    },
    {
      "name": "on behalf of the Hokuriku-plus Familial Hypercholesterolemia Registry Study Group"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/814nw91w6jmtq.bib",
  "cited_by": 0,
  "doi": "10.1253/circj.cj-25-1189",
  "fulltext_url": "https://www.jstage.jst.go.jp/article/circj/90/8/90_CJ-25-1189/_article",
  "id": "814nw91w6jmtq",
  "issns": [
    "1347-4820",
    "1346-9843"
  ],
  "landing_url": "https://www.jstage.jst.go.jp/article/circj/90/8/90_CJ-25-1189/_article",
  "language": null,
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "jstage-journal",
      "medicine/cardiovascular"
    ],
    [
      "openalex",
      "2746|Lipoproteins and Cardiovascular Health"
    ]
  ],
  "openalex": "W7138948167",
  "pdf_url": "https://www.jstage.jst.go.jp/article/circj/advpub/0/advpub_CJ-25-1189/_pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-07-24",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/814nw91w6jmtq.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:24Z",
      "native_id": "10.1253/circj.cj-25-1189",
      "source": "jstage",
      "url": "https://www.jstage.jst.go.jp/article/circj/90/8/90_CJ-25-1189/_article"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2746|Lipoproteins and Cardiovascular Health",
      "subfield": "surgery"
    }
  ],
  "title": "Impact of Genetic Testing Among Patients With Familial Hypercholesterolemia on Adverse Cardiovascular Events ― The Hokuriku-Plus Familial Hypercholesterolemia Registry Study ―",
  "title_text": "Impact of Genetic Testing Among Patients With Familial Hypercholesterolemia on Adverse Cardiovascular Events ― The Hokuriku-Plus Familial Hypercholesterolemia Registry Study ―",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:24Z",
  "url": "https://research.draconitic.com/paper/814nw91w6jmtq",
  "venue": "Circulation Journal",
  "versions": []
}