Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing

Steve E. Humphries, Treena Cranston, Marcus Allen, Helen Middleton-Price, Maryam C. Fernandez, Victoria Senior, Emma Hawe, Andrew Iversen, Richard Wray, Martin A. Crook, Anthony S. Wierzbicki

    Research output: Contribution to journalArticlepeer-review

    Abstract

    As part of a randomised trial [Genetic Risk Assessment for Familial Hypercholesterolaemia (FH) Trial] of the psychological consequences of DNA-based and non-DNA-based diagnosis of FH, 338 probands with a clinical diagnosis of FH (46% with tendon xanthomas) were recruited. In the DNA-based testing arm (245 probands), using single-strand conformation polymorphism of all exons of the low-density lipoprotein receptor (LDLR) gene, 48 different pathogenic mutations were found in 62 probands (25%), while 7 (2.9%) of the patients had the R3500Q mutation in the apolipoprotein B (APOB) gene. Compared to those with no detected mutation, mean untreated cholesterol levels in those with the APOB mutation were similar, while in those with an LDLR mutation levels were significantly higher (None=9.15±1.62 vs LDLR=9.13±1.16 vs APOB=10.26±2.07 mmol/l p
    Original languageEnglish
    Pages (from-to)203-214
    Number of pages11
    JournalJournal of Molecular Medicine
    Volume84
    Issue number3
    DOIs
    Publication statusPublished - Mar 2006

    Keywords

    • Cascade testing
    • GRAFT
    • Low-density lipoprotein receptor
    • Molecular genetic diagnosis

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