OBJECTIVETo 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.

METHODSThe 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.

RESULTSAllele 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).

CONCLUSIONThese 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.