title: A common mutation in cholesteryl ester transfer protein gene and plasma HDL cholesterol level before and after hormone replacement therapy in Korean postmenopausal women.
abstract: BACKGROUND
  Plasma cholesteryl ester transfer protein (CETP) functions to transfer cholesteryl ester from HDL to triglyceride-rich lipoproteins and regulates plasma HDL cholesterol level. A common mutation, the exon 15 A to G substitution at codon 442 (D442G) results in reduced plasma CETP activity and increased plasma HDL cholesterol level. Meanwhile, hormone replacement therapy (HRT) in postmenopausal women increases plasma HDL cholesterol level.
  
  
  METHODS
  We investigated the frequency of D442G mutation and its effect on plasma HDL cholesterol level in Korean women. We also examined if the mutation has any effect on an increase in plasma HDL cholesterol level during HRT.
  
  
  RESULTS
  Two hundred and twenty eight women aged over 40 years were recruited in this study. Of 228 women, 22 (9.6%) were identified as having the D442G mutation; 21 heterozygotes and 1 homozygote. The subjects with the mutation had higher plasma HDL cholesterol levels than those without the mutation (61.6 +/- 17.3 vs. 55.1 +/- 14.0 mg/dL, p < 0.05). After 12 month HRT, HDL cholesterol increased by 6.4% (3.6 +/- 13.2 mg/dL, p < 0.05) and D442G mutation did not have any significant effect on the change of plasma HDL cholesterol level.
  
  
  CONCLUSIONS
  D442G mutation is common in Korean postmenopausal women and it is associated with increased plasma HDL cholesterol level. HRT for postmenopausal women increased plasma HDL cholesterol level in similar amounts regardless of the presence or absence of D442G mutation.
authors.affiliation: Department of Internal Medicine, Samsung Cheil Hospital and Women's Health Care Center, Sungkyunkwan University, 1-19 Mookjeong-dong, Jung-gu, Seoul 100-380, Korea.
authors.forename: Hyun Suk
authors.initials: HS
authors.lastname: Choi
authors.forename: Jeong Bae
authors.initials: JB
authors.lastname: Park
authors.forename: Ki Ok
authors.initials: KO
authors.lastname: Han
authors.forename: Chang Hoon
authors.initials: CH
authors.lastname: Yim
authors.forename: Ho Yeon
authors.initials: HY
authors.lastname: Jung
authors.forename: Hak Chul
authors.initials: HC
authors.lastname: Jang
authors.forename: Hyun Ku
authors.initials: HK
authors.lastname: Yoon
authors.forename: Dong Hee
authors.initials: DH
authors.lastname: Cho
authors.forename: Hyun Ho
authors.initials: HH
authors.lastname: Shin
authors.forename: In Kwon
authors.initials: IK
authors.lastname: Han
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D053480:Cholesterol Ester Transfer Proteins; D015914:Estrogen Replacement Therapy; D005260:Female; D005787:Gene Frequency; D006023:Glycoproteins; D006801:Humans; D007723:Korea; D008075:Lipoproteins, HDL / Q000097:blood*; D008593:Menopause / Q000097:blood* / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation
chemical_list: C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D006023:Glycoproteins; D008075:Lipoproteins, HDL