Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred

Steven C. Hunt, Paul N. Hopkins, Katrina Bulka, Michael T. McDermott, Thomas L. Thorne, Bryan B. Wardell, Benjamin R. Bowen, Dennis G. Ballinger, Mark H. Skolnick, Mark E. Samuels

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Clinical familial hypercholesterolemia has been shown to result from mutations in 2 genes, the low density lipoprotein (LDL) receptor on chromosome 19 and apolipoprotein B on chromosome 2. However, we have recently described a Utah pedigree in which linkage to both genes was clearly excluded. A multipoint linkage analysis of 583 markers genotyped on 31 (18 affected) members of this pedigree was undertaken to localize a genetic region that may harbor a third gene that could result in clinical familial hypercholesterolemia. A multipoint log of the odds score of 6.8 was obtained for markers on 1p32. Haplotype carders and affected status are completely concordant (18/18 persons). The phenotype is also expressed in young children (ages 4 and 9). Specific recombinant individuals in the pedigree restrict the region of linkage to an ≃ 17 cM interval between polymorphic markers D1S2130 and D1S1596. This region appears to overlap the region found linked to severe hypercholesterolemia in French and Spanish families. The identification of the gene in this region may provide important pathophysiological insights into new mechanisms that may lead to highly elevated LDL cholesterol and other associated dyslipidemic phenotypes.

Original languageEnglish
Pages (from-to)1089-1093
Number of pages5
JournalArteriosclerosis, Thrombosis, and Vascular Biology
Issue number4
Publication statusPublished - Apr 2000



  • Familial hypercholesterolemia
  • Genetics
  • LDL cholesterol
  • Linkage analysis

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Hunt, S. C., Hopkins, P. N., Bulka, K., McDermott, M. T., Thorne, T. L., Wardell, B. B., Bowen, B. R., Ballinger, D. G., Skolnick, M. H., & Samuels, M. E. (2000). Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. Arteriosclerosis, Thrombosis, and Vascular Biology, 20(4), 1089-1093.