Current approaches to the genetics of coronary heart disease (CHD) including an account of work done at Hammersmith Hospital.
Genetic variability makes a significant contribution to CHD in Western populations. The major genetic component in CHD in the general population is polygenic; only a small fraction of the total genetic contribution is due to rare monogenic disorders such as FH. Two approaches to the investigation of the genetics of CHD are described. In the first, the frequencies of the alleles at polymorphic sites in the apoB gene were compared in unrelated normal and CHD men. There was a positive association between CHD and two of the alleles investigated (E- and X-). The significance of these findings is discussed. In the second approach, patients with a clinical diagnosis of FH were screened for the presence of a rare mutation in the apoB gene giving rise to defective LDL particles. The mutation was detected in 3-4% of the screened population. This suggest that the apoB mutation may produce a clinical syndrome indistinguishable from FH.
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Royal Postgraduate Medical School, Hammersmith Hospital, London, U.K.
D001055:Apolipoproteins B / Q000172:deficiency / Q000235:genetics; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics*; D005060:Europe / Q000453:epidemiology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006761:Hospitals; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics; D008077:Lipoproteins, LDL / Q000235:genetics; D008131:London; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014481:United States / Q000453:epidemiology
D001055:Apolipoproteins B; D008077:Lipoproteins, LDL