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A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease.
J Clin Invest. 1997 Apr 01; 99(7):1606-13.JCI

Abstract

Lipoprotein lipase degrades triglycerides in plasma and as a byproduct produces HDL particles. Genetic variation in lipoprotein lipase may therefore affect cardiovascular risk. We tested 9,214 men and women from a general population sample and 948 patients with ischemic heart disease for the Asn291Ser substitution in lipoprotein lipase. The allele frequency in the general population was 0.024 and 0.026 for women and men, respectively. In comparison with noncarriers, female heterozygous probands had increased plasma triglycerides (delta = 0.23 mmol/liter), while HDL cholesterol was reduced in both female and male carriers (delta = 0.18 mmol/liter and delta = 0.11 mmol/liter, respectively). A similar phenotype was found in six homozygous carriers. On multiple logistic regression analysis, plasma triglycerides and HDL cholesterol were independent predictors of ischemic heart disease in both genders. On univariate analysis, odds ratios for ischemic heart disease in probands were 1.89 in women (95% CI: 1.19-3.01) and 0.90 in men (95% CI: 0.62-1.31), and on multivariate analysis were 1.98 in women (95% CI: 1.11-3.53) and 1.02 in men (95% CI: 0.65-1.60). This study demonstrates that a single common mutation in the lipoprotein lipase gene is associated with elevated plasma triglycerides and reduced HDL cholesterol levels, whereby carriers, in particular women, seem to be predisposed to ischemic heart disease. It cannot be excluded, however, that male carriers of this substitution may represent a subset of low-HDL individuals without raised triglycerides not predisposed to ischemic heart disease.

Authors+Show Affiliations

Department of Clinical Biochemistry, Herlev University Hospital, Denmark.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9120004

Citation

Wittrup, H H., et al. "A Common Substitution (Asn291Ser) in Lipoprotein Lipase Is Associated With Increased Risk of Ischemic Heart Disease." The Journal of Clinical Investigation, vol. 99, no. 7, 1997, pp. 1606-13.
Wittrup HH, Tybjaerg-Hansen A, Abildgaard S, et al. A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. J Clin Invest. 1997;99(7):1606-13.
Wittrup, H. H., Tybjaerg-Hansen, A., Abildgaard, S., Steffensen, R., Schnohr, P., & Nordestgaard, B. G. (1997). A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. The Journal of Clinical Investigation, 99(7), 1606-13.
Wittrup HH, et al. A Common Substitution (Asn291Ser) in Lipoprotein Lipase Is Associated With Increased Risk of Ischemic Heart Disease. J Clin Invest. 1997 Apr 1;99(7):1606-13. PubMed PMID: 9120004.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. AU - Wittrup,H H, AU - Tybjaerg-Hansen,A, AU - Abildgaard,S, AU - Steffensen,R, AU - Schnohr,P, AU - Nordestgaard,B G, PY - 1997/4/1/pubmed PY - 1997/4/1/medline PY - 1997/4/1/entrez SP - 1606 EP - 13 JF - The Journal of clinical investigation JO - J Clin Invest VL - 99 IS - 7 N2 - Lipoprotein lipase degrades triglycerides in plasma and as a byproduct produces HDL particles. Genetic variation in lipoprotein lipase may therefore affect cardiovascular risk. We tested 9,214 men and women from a general population sample and 948 patients with ischemic heart disease for the Asn291Ser substitution in lipoprotein lipase. The allele frequency in the general population was 0.024 and 0.026 for women and men, respectively. In comparison with noncarriers, female heterozygous probands had increased plasma triglycerides (delta = 0.23 mmol/liter), while HDL cholesterol was reduced in both female and male carriers (delta = 0.18 mmol/liter and delta = 0.11 mmol/liter, respectively). A similar phenotype was found in six homozygous carriers. On multiple logistic regression analysis, plasma triglycerides and HDL cholesterol were independent predictors of ischemic heart disease in both genders. On univariate analysis, odds ratios for ischemic heart disease in probands were 1.89 in women (95% CI: 1.19-3.01) and 0.90 in men (95% CI: 0.62-1.31), and on multivariate analysis were 1.98 in women (95% CI: 1.11-3.53) and 1.02 in men (95% CI: 0.65-1.60). This study demonstrates that a single common mutation in the lipoprotein lipase gene is associated with elevated plasma triglycerides and reduced HDL cholesterol levels, whereby carriers, in particular women, seem to be predisposed to ischemic heart disease. It cannot be excluded, however, that male carriers of this substitution may represent a subset of low-HDL individuals without raised triglycerides not predisposed to ischemic heart disease. SN - 0021-9738 UR - https://www.unboundmedicine.com/medline/citation/9120004/A_common_substitution__Asn291Ser__in_lipoprotein_lipase_is_associated_with_increased_risk_of_ischemic_heart_disease_ L2 - https://doi.org/10.1172/JCI119323 DB - PRIME DP - Unbound Medicine ER -