Wang Haijian, Jiang Yan, Liu Yang, Lin Chengzhao, Cheng Gang, Chen Xiaoping, Hao Bingtao, Tan Wen, Lin Dongxin, He Fuchu
Laboratory of Systems Biology, Institutes of Biomedical Sciences, Fudan University, 138 Yixueyuan Rd., Shanghai 200032, PR China.
Clin Chim Acta. 2006 Mar;365(1-2):125-8. doi: 10.1016/j.cca.2005.08.007. Epub 2005 Sep 21.
Human cytochrome P450 2J2 (CYP2J2) is the major arachidonic acid epoxygenase that plays important roles in the pathogenesis of a variety of diseases such as cardiovascular disorders and cancers, this P450 also plays a role in the metabolism of some antihistamine drugs. Variability of CYP2J2 gene is highly constrained except for at its proximal promoter a relatively common and functionally relevant single nucleotide polymorphism, namely CYP2J27, with allele frequency being 17%, 5.49%, 13%, and 4.23% in African, White, Asian, and Korean, respectively. Since this genetic variation differs strikingly between ethnic groups, we characterized the CYP2J27polymorphism in Chinese.
Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) assays were used to genotype CYP2J2*7 in a sample of 384 healthy Chinese Han subjects.
In this Chinese population, 20 (5.21%) heterozygotes and no homozygote for CYP2J2*7 allele were observed, and the allelic frequency was 2.60%.
The CYP2J2*7 variant represents a relatively rare polymorphism in Chinese, with the allele frequency being comparable to that of Korean, but significantly lower than those of African and White groups. This data may be informative to design population-based association study of genetic predisposition to CYP2J2 related diseases and treatments.
人细胞色素P450 2J2（CYP2J2）是主要的花生四烯酸环氧化酶，在多种疾病如心血管疾病和癌症的发病机制中起重要作用，该P450也参与一些抗组胺药物的代谢。除其近端启动子存在一个相对常见且功能相关的单核苷酸多态性即CYP2J27外，CYP2J2基因的变异性受到高度限制，其等位基因频率在非洲人、白种人、亚洲人和韩国人中分别为17%、5.49%、13%和4.23%。由于这种基因变异在不同种族之间存在显著差异，我们对中国人群中的CYP2J27多态性进行了特征分析。
采用聚合酶链反应和限制性片段长度多态性（PCR-RFLP）分析方法，对384名健康中国汉族受试者样本中的CYP2J2*7进行基因分型。
在这个中国人群中，观察到20名（5.21%）CYP2J2*7等位基因杂合子，未观察到纯合子，等位基因频率为2.60%。
CYP2J2*7变异在中国人群中是一种相对罕见的多态性，其等位基因频率与韩国人群相当，但显著低于非洲人和白种人群体。该数据可能有助于设计基于人群的CYP2J2相关疾病遗传易感性和治疗的关联研究。
