[Association between cholesterol 7alpha-hydroxylase -204A/C gene polymorphism and endogenous hypertriglyceridemia in Chinese].
OBJECTIVE
To investigate the cholesterol 7alpha-hydroxylase gene -204A/C polymorphism and its relationship with serum lipids and apolipoproteins (apo) levels in patients with endogenous hypertriglyceridemia (HTG) in Chinese population in Chengdu area.


METHODS
The genotype and allele frequencies of cholesterol 7alpha-hydroxylase gene -204A/C polymorphism were analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Serum lipids were measured by enzymatic kits and apolipoproteins AI, AII, B100, CII, CIII and E were measured by the RID kits in 132 HTG patients and 212 control subjects.


RESULTS
Allele frequencies of A and C were 0.602 and 0.398 in HTG group and 0.601 and 0.399 in control group, respectively. There was no significant difference of allele and genotypes frequencies between HTG and control groups (P> 0.05). In HTG group, carriers with the genotypes CC and AC were associated with significantly higher concentrations of triglycerides and apoCIII compared with those with genotype AA (P< 0.05). In the control group, carriers with the genotypes CC and AC were associated with significantly lower serum high density lipoprotein cholesterol (HDL-C) level compared with those with genotype AA (P< 0.05). In the male control group, carriers with the genotypes CC and AC had elevated levels of serum triglycerides than those with genotype AA (P< 0.05).


CONCLUSIONS
These results suggest that -204A/C polymorphism in the CYP7A1 gene does not relate with HTG but may has an effect on serum triglyceride and apoCIII levels in patients with endogenous HTG, the serum HDL-C level in control subjects and the serum TG level in male control subjects.
Qiao
Yan
Y
Division of Peptides Related with Human Diseases, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041 P. R. China.
Liu
Rui
R
Bai
Huai
H
Liu
Yu
Y
Li
Xian
X
Tang
Chen-wei
CW
Liu
Bing-wen
BW
D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D002790:Cholesterol 7-alpha-Hydroxylase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
D008055:Lipids; D002790:Cholesterol 7-alpha-Hydroxylase