DNA polymorphism haplotypes of the human lipoprotein lipase gene

possible association with high density lipoprotein levels

Camilla Heizmann, Todd Kirchgessner, Peter O. Kwiterovich, John A. Ladias, Carol Derby, Stylianos E. Antonarakis, Aldons J. Lusis

Research output: Contribution to journalArticle

Abstract

Lipoprotein lipase (LPL) plays a central role in the metabolism of lipoproteins by hydrolyzing the core triglycerides of circulating very low density lipoproteins and chylomicrons. The enzyme is encoded by a gene about 30kb in size located on the short arm of human chromosome 8. We have determined the locations of the four common DNA polymorphisms along the gene, including a polymorphism that occurred only among an American black population examined. These restriction site polymorphisms were used for haplotype analysis of Mediterranean and US black families. Estimation of the extent of nonrandom association between these polymorphisms indicated considerable linkage disequilibrium between these sites. No correlation was observed between the level of linkage disequilibrium and the physical distance of the polymorphic sites. The polymorphism information content of the haplotypes ranged from 0.65 to 0.74, thereby constituting a relatively useful genetic marker on chromosome 8. We tested for possible associations between the polymorphisms and circulating lipoprotein phenotypes in a population of 139 Caucasians undergoing coronary arteriography and 50 of their spouses. Some possibly significant associations between LPL gene polymorphisms and levels of high density lipoprotein cholesterol (P = 0.015) and total plasma cholesterol (P = 0.025) were observed. In contrast to a previous report, we found no significant associations with the levels of plasma triglycerides.

Original languageEnglish (US)
Pages (from-to)578-584
Number of pages7
JournalHuman Genetics
Volume86
Issue number6
DOIs
StatePublished - 1991

Fingerprint

HDL Lipoproteins
Haplotypes
Chromosomes, Human, Pair 8
Lipoprotein Lipase
Linkage Disequilibrium
Lipoproteins
DNA
Genes
Chylomicrons
Human Chromosomes
Spouses
Genetic Markers
HDL Cholesterol
Population
Angiography
Triglycerides
Cholesterol
Phenotype
Enzymes
human LPL protein

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Heizmann, C., Kirchgessner, T., Kwiterovich, P. O., Ladias, J. A., Derby, C., Antonarakis, S. E., & Lusis, A. J. (1991). DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels. Human Genetics, 86(6), 578-584. https://doi.org/10.1007/BF00201544

DNA polymorphism haplotypes of the human lipoprotein lipase gene : possible association with high density lipoprotein levels. / Heizmann, Camilla; Kirchgessner, Todd; Kwiterovich, Peter O.; Ladias, John A.; Derby, Carol; Antonarakis, Stylianos E.; Lusis, Aldons J.

In: Human Genetics, Vol. 86, No. 6, 1991, p. 578-584.

Research output: Contribution to journalArticle

Heizmann, C, Kirchgessner, T, Kwiterovich, PO, Ladias, JA, Derby, C, Antonarakis, SE & Lusis, AJ 1991, 'DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels', Human Genetics, vol. 86, no. 6, pp. 578-584. https://doi.org/10.1007/BF00201544
Heizmann, Camilla ; Kirchgessner, Todd ; Kwiterovich, Peter O. ; Ladias, John A. ; Derby, Carol ; Antonarakis, Stylianos E. ; Lusis, Aldons J. / DNA polymorphism haplotypes of the human lipoprotein lipase gene : possible association with high density lipoprotein levels. In: Human Genetics. 1991 ; Vol. 86, No. 6. pp. 578-584.
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