Polymorphism at the apoprotein-E locus in relation to risk of coronary disease. 1984

A M Cumming, and F W Robertson

The frequency of genotypes at the polymorphic locus which codes for Apoprotein-E, an important constituent of very low density serum lipoprotein, has been determined in a random sample of persons between the ages of 45 and 60 years, born in the Grampian Region of North East Scotland. Three alleles, EII, EIII and EIV occur with a frequency of respectively 0.08, 0.77 and 0.15. In a random sample of survivors of myocardial infarction, born in the same region, genotype EIVEIII occurs more and EIIIEII less frequently than expected. Also the mean age at first infarction is lower in men for genotype EIVEIII than for other genotypes. Commonly occurring genotypes at this locus apparently influence the risk of coronary disease. A prospective study is needed to show how the genetic effects are expressed.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D003327 Coronary Disease An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. Coronary Heart Disease,Coronary Diseases,Coronary Heart Diseases,Disease, Coronary,Disease, Coronary Heart,Diseases, Coronary,Diseases, Coronary Heart,Heart Disease, Coronary,Heart Diseases, Coronary
D004812 Epidemiologic Methods Research techniques that focus on study designs and data gathering methods in human and animal populations. Epidemiologic Method,Epidemiological Methods,Methods, Epidemiologic,Epidemiological Method,Method, Epidemiologic,Method, Epidemiological,Methods, Epidemiological
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000367 Age Factors Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time. Age Reporting,Age Factor,Factor, Age,Factors, Age
D001053 Apolipoproteins Protein components on the surface of LIPOPROTEINS. They form a layer surrounding the hydrophobic lipid core. There are several classes of apolipoproteins with each playing a different role in lipid transport and LIPID METABOLISM. These proteins are synthesized mainly in the LIVER and the INTESTINES. Apolipoprotein
D001057 Apolipoproteins E A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III. Apo-E,Apo E,Apo E Isoproteins,ApoE,Apolipoprotein E Isoproteins,Apoprotein (E),Apoproteins E,Isoproteins, Apo E,Isoproteins, Apolipoprotein E
D012306 Risk The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. Relative Risk,Relative Risks,Risk, Relative,Risks,Risks, Relative

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