A common mutation in cholesteryl ester transfer protein gene and plasma HDL cholesterol level before and after hormone replacement therapy in Korean postmenopausal women.
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.
Choi
Hyun Suk
HS
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.
Park
Jeong Bae
JB
Han
Ki Ok
KO
Yim
Chang Hoon
CH
Jung
Ho Yeon
HY
Jang
Hak Chul
HC
Yoon
Hyun Ku
HK
Cho
Dong Hee
DH
Shin
Hyun Ho
HH
Han
In Kwon
IK
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
C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D006023:Glycoproteins; D008075:Lipoproteins, HDL