Sex-associated effect of CETP and LPL polymorphisms on postprandial lipids in familial hypercholesterolaemia.
BACKGROUND
This study assessed the gender-specific influence of the cholesteryl ester transfer protein (TaqIB, I405V) and lipoprotein lipase (S447X) polymorphisms on the response to an oral fat tolerance test in heterozygotes for familial hypercholesterolaemia.


METHODS
We selected and genotyped 80 men and postmenopausal women heterozygous for familial hypercholesterolaemia (main group) as well as 11 healthy control subjects. Patients were subgrouped based on their response to oral fat tolerance test. The oral fat tolerance test was defined as pathological when postprandial triglyceride concentration was higher than the highest triglyceride concentration observed in healthy subjects (220 mg/dl) at any time (2, 4, 6 or 8 h).


RESULTS
In the pathological subgroup, men had significantly higher incremental area under the curve after oral fat tolerance test than postmenopausal women. Furthermore, multivariate analysis revealed a gender association of TaqIB and I405V influence on postprandial lipaemia in this subgroup.


CONCLUSIONS
In conclusion, it seems that gender and TaqIB polymorphism of the cholesteryl ester transfer protein gene were both associated with the distribution of triglyceride values after oral fat tolerance test, only in subjects with a pathological response to oral fat tolerance test. Specifically, men carrying the B2 allele of the TaqIB polymorphism showed a higher postprandial triglyceride peak and a delayed return to basal values compared with women carrying B2. However, further investigations in larger populations are required to replicate and confirm these findings.
Anagnostopoulou
Katherine K
KK
1st Cardiology Department, Onassis Cardiac Surgery Center Athens, Greece. kat_anag@yahoo.com
Kolovou
Genovefa D
GD
Kostakou
Peggy M
PM
Mihas
Constantinos
C
Hatzigeorgiou
Georgios
G
Marvaki
Christina
C
Degiannis
Dimitrios
D
Mikhailidis
Dimitri P
DP
Cokkinos
Dennis V
DV
D000483:Alleles; D016022:Case-Control Studies; D053480:Cholesterol Ester Transfer Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D015999:Multivariate Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019518:Postprandial Period / Q000235:genetics*; D012044:Regression Analysis; D012727:Sex Characteristics; D014280:Triglycerides / Q000097:blood*
C506642:CETP protein, human; D053480:Cholesterol Ester Transfer Proteins; D014280:Triglycerides; D008071:Lipoprotein Lipase