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Association of the ile405val mutation in cholesteryl ester transfer protein gene with risk of acute myocardial infarction
  1. G K Andrikopoulos1,
  2. D J Richter2,
  3. E W Needham3,
  4. M N Zairis4,
  5. E N Karabinos1,
  6. E J Gialafos5,
  7. P E Dilaveris6,
  8. K E Paravolidakis7,
  9. K G Kappos1,
  10. E G Papasteriadis7,
  11. F G Kardaras1,
  12. S G Foussas8,
  13. C I Stefanadis9,
  14. J E Gialafos9,
  15. R K Mattu10,
  16. P K Toutouzas9
  1. 1Cardiac Department, Evaggelismos Hospital, Athens, Greece
  2. 2Euroclinic Hospital, Athens, Greece
  3. 3University of Warwick, Warwick, UK
  4. 4Tzaneion Hospital, Piraeus, Greece
  5. 5Department of Therapeutics, Alexandra Hospital, Athens, Greece
  6. 6Polykliniki Hospital, Athens, Greece
  7. 7Cardiac Department, Agios Panteleimon Hospital, Nikaia, Greece
  8. 8Cardiac Department, Tzaneion Hospital, Piraeus, Greece
  9. 9University of Athens Medical School, Hippokration Hospital, Athens, Greece
  10. 10Walsgrave Hospital, Coventry, UK
  1. Correspondence to:
    George K Andrikopoulos
    9 Yrkanias Street, 11142 Athens, Greece;

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Cholesteryl ester transfer protein (CETP) not only regulates removal of excess cholesterol to the liver but also mediates the transfer of esterified hydrophobic cholesterol to the potentially atherogenic low density lipoprotein (LDL) and intermediate density lipoprotein (IDL) particles. The Ile405Val mutation in the CETP gene, caused by an A>G mutation in codon 405 of exon 14, which is located in chromosome 16, has been related to decreased activity of the enzyme,1 increased but possibly dysfunctional high density lipoprotein (HDL) cholesterol, and increased risk for ischaemic heart disease2 in white women. The primary objective of this specifically designed, prospective study was to examine the influence of the Ile405Val mutation on risk of acute myocardial infarction (AMI) in a low coronary risk white population.


The GEMIG study (genetics and epidemiology of acute myocardial infarction in the Greek population) was designed to evaluate the genetic predisposition of myocardial infarction and prognosis after AMI in the Greek population. Nine cardiac departments in three cities (Athens, Piraeus, and Thesalonici) in Greece, and the Department of Biological Sciences of Warwick University, have participated in this study. Blood samples for genetic analyses and successful genotyping for the Ile405Val mutation occurred in 1625 patients, out of a total of 1749 consecutive eligible patients who had been enrolled in the GEMIG study between October 1997 and March 1999. The control group consisted of 805 adults (aged > 30 years old) who were randomly selected from the city catalogues. Blood samples for genetic analyses were obtained from 794 of …

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  • This study was carried out on behalf of the GEMIG study investigators