Association Of Cholesteryl Ester Transfer Protein Gene Mutation With Lipoprotein Metabolism

Objectivet:To study the relationship between cholesteryl ester transferprotein gene mutation and plasma levels of apolipoprotein and lipoprotein. Aprevalent mutation in the CETP genes, a missense mutation (Asp442 toGly), was first described in Japan and was associated with CETPdeficiency .The frequencies of the mutation in other populations have rarelybeen reported. Herein we analyzed the frequencies and the association of apoA-Iand HDL-C levels wih the mutation. Material and Method: The frequencies of the mutations mentionedabove and the association of serum HDL-C level with the mutation wereanalyzed in 209 Chinese individuals. The amplified DNA products weredigested with MspI and subjected to electrophoresis in agarose gel. Two hundreds and nine cases were examined.Meanwhile 209 cases were collectedfor the determination of serum total cholesterol (TC),triglycerides(TG),aPolipoproteinA -I(aPoA-I), aPolipoproteinB (aPoB),blood sugar (SUG).The studied population were classified into two grouPs: (l3 cases) and controlgrOuP(l96 cases), The sennn lipoProtin \ aPo' SUG levels and smoldngindex were comPared betwCen the mutaion and cothel grouPs.Re8ult8: Our data revealed that cholesteryl ester transfer protein gene exonl5 missense mutaion (D442G) was present in l3 (l2heteroZygotes and lhomoZygotes, 6.2%) studied individuals. Significanly higher aPoA-I levels(1 .2l t0.27 g/L ) in the mutation grouP than those without the mutations(l.07i 1. 43g/L, P<0. 05) .There was a negative relation between smokingand genetic mutaion. conclusion: There was significan difference in serumaPoA-I levels betWeen genetic mlltation subjects and colltrOls and a negativerelation betwCen smoking and genetic matation..Conclu8ion: These results suggested tha genetic-environmelltal interactionis imPortare in determhang the levels of aPoA-I and HDL-C arnong Chinese.