AIM:To investigate the association of the polymorphism of rs2162459 locus in cytochrome P-450, family 7, subfamily A, polypeptide 1 (CYP7A1) gene, encoding cholesterol 7α-hydroxylase, with the effectiveness of atorvastatin in northern Chinese Han population. METHODS:Clinical data and blood samples of 200 cases of hyperlipidemia patients were collected. The variants of rs2162459 in CYP7A1 gene were detected by multiplex SNaPshot technology. Several genetic models were constructed to analyse the association of gene polymorphism with the effectiveness of atorvastatin by logistic regression method. RESULTS:The polymorphism of rs2162459 was consistent with Hardy-Weinberg equilibrium. The baseline high-density lipoprotein cholesterol (HDL-C) concentrations in three genotypes of AA, GA and GG were (136±0.94) mmol/L, (1.16±0.38) mmol/L and (1.07±0.28) mmol/L, respectively (P<0.05). There were differences in the genotypic frequency and allelic frequency between atorvastatin effective and ineffective groups (both P<005). Significant differences in regulating HDL-C level among the three genotypes of rs2162459 were found after logistic regression. The results of additive model, generalized model and dominant model, presented as OR (95% CI), were 1.74 (1.09~2.77), 2.86 (1.13~7.25) and 2.21 (1.12~4.33), respectively. CONCLUSION: The baseline HDL-C level in the carriers of GG genotype is lower than that in the carriers of the other two genotypes. The HDL-C-elevating effect of atorvastatin on GG genotype carriers is more significant than that on AA genotype carriers.
王国昌,陈晓明,李淑元,张娜娜,郑丽娟,陈甜甜,庄茂强,张琳,陈焕芹,吕明. 中国北方汉族人CYP7A1基因rs2162459多态性与阿托伐他汀疗效的关系[J]. 中国病理生理杂志, 2013, 29(8): 1365-1369.
WANG Guo-chang, CHEN Xiao-ming, LI Shu-yuan, ZHANG Na-na, ZHENG Li-juan, CHEN Tian-tian, ZHUANG Mao-qiang, ZHANG Lin, CHEN Huan-qin, L Ming. Association of rs2162459 polymorphism in CYP7A1 gene with effectiveness of atorvastatin in northern Chinese Han population. Chin J Pathophysiol, 2013, 29(8): 1365-1369.