Cutoff Point Separating Affected and Unaffected Familial Hypercholesterolemic Patients Validated by LDL-receptor Gene Mutants

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著者

    • MABUCHI Hiroshi
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • HIGASHIKATA Toshinori
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • NOHARA Atushi
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • LU Hong
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • YU Wen Xin
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • NOZUE Tsuyoshi
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • NOJI Yoshihiro
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • KATSUDA Shoji
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • KAWASHIRI Masa-aki
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • INAZU Akihiro
    • Department of Internal Medicine and Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science
    • KOBAYASHI Junji
    • Division of Diseases Related to Lifestyle, Kanazawa University Graduate School of Medical Science
    • KOIZUMI Junji
    • Department of General Medicine, Kanazawa University Graduate School of Medical Science

抄録

Familial hypercholesterolemia (FH) results from low-density lipoprotein (LDL) receptor gene mutations. Heterozygotes have twice normal LDL-cholesterol concentrations in early childhood, and experience early myocardial infarction. We demonstrated bimodal cholesterol frequency distributions, independently confirming existence of an identifiable hypercholesterolemic subpopulation. We assayed blood lipids in 181 FH patients genetically diagnosed and 100 unaffected relatives. Receiver operating characteristics curves were constructed. Total cholesterol and LDL-cholesterol concentrations showed bimodality. A total cholesterol cutoff of 225 mg/dl produced results agreeing with DNA testing (specificity, 98.5%; sensitivity, 99.4%). An LDL-cholesterol cutoff of 161−163 mg/dl produced 98.5% specificity and 98.3% sensitivity. Areas under curves were 0.9826 ± 0.0058 for total cholesterol, and 0.9852 ± 0.0043 for LDL-cholesterol. In conclusion, we define total cholesterol and LDL-cholesterol levels of 225 and 160 mg/dl, respectively, as cutoff points of normal subjects and FH patients.

収録刊行物

  • Journal of atherosclerosis and thrombosis  

    Journal of atherosclerosis and thrombosis 12(1), 35-40, 2005-02-28 

    Japan Atherosclerosis Society

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各種コード

  • NII論文ID(NAID)
    10018366354
  • NII書誌ID(NCID)
    AA11018976
  • 本文言語コード
    ENG
  • 資料種別
    ART
  • ISSN
    13403478
  • データ提供元
    CJP書誌  J-STAGE 
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