← Back to Search
Potentially Protective Effects Of The Ser447-Ter Mutation Of The Lipoprotein Lipase Gene Against The Development Of Coronary Artery Disease In Japanese Subjects Via A Beneficial Lipid Profile.
M. Sawano, Y. Watanabe, H. Ohmura, K. Shimada, H. Daida, H. Mokuno, H. Yamaguchi
Published 2001 · Medicine
Download PDFAnalyze on Scholarcy
Several DNA variants at the lipoprotein lipase (LPL) gene locus have been found to be associated with the plasma lipid levels and the prevalence of coronary artery disease (CAD). In particular, the Ser447-termination (Ter) mutation at the exon 9 of the LPL gene has the potential to elevate the plasma high-density lipoprotein (HDL) levels, but it remains unknown in the Japanese population. The present study investigated 93 CAD patients and 96 age- and sex-matched healthy controls. The Ser447-Ter mutation was determined by polymerase chain reaction restriction fragment length polymorphism method. The allelic frequency of the Ser447-Ter mutation was 0.103 in all subjects. The Ser447-Ter (GG and CG) group was associated with significantly higher levels of plasma HDL-cholesterol (p<0.001) and lower levels of plasma triglyceride than the CC group (p<0.02). The peak particle size of low-density lipoprotein (LDL) was significantly larger in the Ser447-Ter (GG and CG) group than in CC group (p<0.05). The frequency of the Ser447-Ter genotype in GG and CG was significantly lower in CAD than in the controls (11.9% vs 26%, odds ratio = 0.38; 95% confidence interval, 0.18-0.81; p<0.02). These results suggest that the Ser447-Ter mutation of the LPL gene is associated with high plasma HDL-cholesterol levels, low plasma triglyceride levels and a larger LDL particle size. This mutation may have a protective effect against the development of CAD via its favorable lipoprotein profile.
This paper references
Detection of three separate DNA polymorphisms in the human lipoprotein lipase gene by gene amplification and restriction endonuclease digestion.
T. Gotoda (1992)
Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.
G. Miesenböck (1993)
Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoproteins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden.
R. E. Peacock (1992)
Suppression of diet-induced atherosclerosis in low density lipoprotein receptor knockout mice overexpressing lipoprotein lipase.
M. Shimada (1996)
Hind III polymorphism of the lipoprotein lipase gene and plasma lipid response to low calorie diet
R. Jemaa (1997)
Genetic Variant Showing a Positive Interaction With β-Blocking Agents With a Beneficial Influence on Lipoprotein Lipase Activity, HDL Cholesterol, and Triglyceride Levels in Coronary Artery Disease Patients: The Ser447-Stop Substitution in the Lipoprotein Lipase Gene
B. Groenemeijer (1997)
HindIII DNA polymorphism in the lipoprotein lipase gene and plasma lipid phenotypes and carotid artery atherosclerosis
L. Chen (1996)
Ser447stop mutation in lipoprotein lipase is associated with elevated HDL cholesterol levels in normolipidemic males.
J. Kuivenhoven (1997)
Relationship of LDL size to insulin sensitivity in normoglycemic men.
L. Mykkänen (1997)
Effect of hepatic lipase on LDL in normal men and those with coronary artery disease.
A. Zambon (1993)
Polymorphisms in the lipoprotein lipase gene and their associations with plasma lipid concentrations in 40-year-old Danish men.
C. Gerdes (1995)
Postprandial modulation of lipoprotein lipase in rats with insulin resistance.
A. Boivin (1994)
Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation.
K. Kozaki (1993)
Lipoprotein lipase and lipolysis: central roles in lipoprotein metabolism and atherogenesis.
I. Goldberg (1996)
Lipoproteins, apolipoproteins, and low-density lipoprotein size among diabetics in the Framingham offspring study.
R. Siegel (1996)
Polymorphisms of the human lipoprotein lipase gene: possible association with lipid levels in patients with coronary heart disease in Beijing area.
P. Ye (1996)
Nondenaturing polyacrylamide gradient gel electrophoresis.
A. Nichols (1986)
Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene.
A. Hata (1990)
The Dense LDL Phenotype: Association with plasma lipoprotein levels, visceral obesity, and hyperinsulinemia in men
A. Tchernof (1996)
Relationship of Low-Density Lipoprotein Particle Size to Plasma Lipoproteins, Obesity, ana Insulin Resistance in Japanese Men
T. Suehiro (1995)
Lipoprotein lipase gene polymorphisms: associations with myocardial infarction and lipoprotein levels, the ECTIM study. Etude Cas Témoin sur l'Infarctus du Myocarde.
R. Jemaa (1995)
Lipoprotein lipase activity in skeletal muscle is related to insulin sensitivity.
T. Pollare (1991)
Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.
É. Gagné (1994)
Hepatic lipase and lipoprotein lipase are not major determinants of the low density lipoprotein subclass pattern in human subjects with coronary heart disease.
H. Jansen (1994)
Common DNA polymorphisms at the lipoprotein lipase gene. Association with severity of coronary artery disease and diabetes.
X. Wang (1996)
Grapefruit Juice in Alloxan-Induced Diabetes in Rabbits
B. Ali (1995)
Human lipoprotein lipase complementary DNA sequence.
K. Wion (1987)
DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population.
R. Mattu (1994)
Common variants in the promoter of the hepatic lipase gene are associated with lower levels of hepatic lipase activity, buoyant LDL, and higher HDL2 cholesterol.
A. Zambon (1998)
Structure and polymorphic map of human lipoprotein lipase gene.
K. Oka (1990)
The Asn‐291→Ser and Ser‐477→Stop mutations of the lipoprotein lipase gene and their significance for lipid metabolism in patients with hypertriglyceridaemia
P. Knudsen (1997)
Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion.
J. Stocks (1992)
The Ser447-Ter mutation of the lipoprotein lipase gene relates to variability of serum lipid and lipoprotein levels in monozygotic twins.
J. Thorn (1998)
Overexpression of Human Lipoprotein Lipase Protects Diabetic Transgenic Mice From Diabetic Hypertriglyceridemia and Hypercholesterolemia
Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group.
B. Groenemeijer (1997)
Lipoprotein lipase and hepatic lipase
T. Olivecrona (1990)
DNA polymorphisms at the lipoprotein lipase gene: associations in normal and hypertriglyceridaemic subjects.
J. Chamberlain (1989)
This paper is referenced by
Polymorphisms Related to Acute Coronary Syndromes and Heart Failure
A. Wu (2003)
Mitochondrial 5178A/C genotype is associated with acute myocardial infarction.
S. Mukae (2003)
Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis.
G. S. Sagoo (2008)
R353Q polymorphism, activated factor VII, and risk of premature myocardial infarction in Japanese men.
M. Ogawa (2004)
Personalized nutrition: nutritional genomics as a potential tool for targeted medical nutrition therapy.
Sina Vakili (2007)
Lipoprotein lipase gene polymorphisms and the risk of target vessel revascularization after percutaneous coronary intervention.
P. Monraats (2005)
The pivotal role of lipoprotein lipase in atherosclerosis.
J. R. Mead (2002)
DNA Polymorphisms of the Lipoprotein Lipase Gene and Their Association with Coronary Artery Disease in the Saudi Population
Abdulaziz A. Al-Jafari (2012)
GENETIC SUSCEPTIBILITY TO THE METABOLIC SYNDROME
Y. Bossé (2004)
Genetics of LDL particle heterogeneity: from genetic epidemiology to DNA-based variations.
Y. Bossé (2004)
Effect of polymorphism Ser447stop lipoprotein lipase gene on the concentration of testosterone in male is infertile in the city of Samarra
Omar Rahem Khalaf Al-Obaidy (2017)
The association of the S447X mutation in LPL with Coronary artery disease: a meta-analysis.
Weiping Sun (2019)
Meta-analyses of four polymorphisms of lipoprotein lipase associated with the risk of Alzheimer’s disease
L. Ren (2016)
Lipoprotein Lipase (LPL) Polymorphism and the Risk of Coronary Artery Disease: A Meta-Analysis
Li Xie (2017)
Molecular Pathogenesis of Cardiovascular Disease
A. Wu (2006)
The cardiovascular metabolic syndrome
J. Rana (2005)
Novel neuropeptide Y1 and Y5 receptor gene variants: associations with serum triglyceride and high‐density lipoprotein cholesterol levels
J. Blumenthal (2002)
Lack of association of two lipoprotein lipase polymorphisms with Alzheimer's disease
Matthew D Martin-Rehrmann (2002)
Análise da influência de polimorfismos presentes nos genes APO B, CETP, LPL e LIPC em uma população dislipidêmica do Rio Grande do Sul
F. G. L. Chula (2008)
7 lipoprotein lipase Gene polymorphisms and the risk of tarGet vessel revascularization after percutaneous coronary intervention
P. Monraats (2006)
Polymorphisms Related to Acute Coronary Syndromes and Heart Failure: Potential Targets for Pharmacogenomics
A. Wu (2003)
Associations between LPL gene polymorphisms and coronary artery disease: evidence based on an updated and cumulative meta-analysis
Wen-Qi Ma (2018)
Lipoprotein lipase: structure, function, regulation, and role in disease
J. R. Mead (2002)
Lipolytic PPAR activation: new insights into the intersection of triglycerides and inflammation?
O. Ziouzenkova (2004)
Lipoprotein Lipase Gene Polymorphisms in Croatian Patients with Coronary Artery Disease
G. Ferenčak (2003)
Lipoprotein lipase S447X : from benefical gene variant to gene therapy
M. C. Nierman (2006)
Does More Schooling Reduce Hospitalization and Delay Mortality? New Evidence Based on Danish Twins
J. Behrman (2011)
Associations of three lipoprotein lipase gene polymorphisms, lipid profiles and coronary artery disease.
M. S. Daoud (2013)