Background: 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 CYP2J2*7, 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 CYP2J2*7polymorphism in Chinese.
Methods: 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.
Results: In this Chinese population, 20 (5.21%) heterozygotes and no homozygote for CYP2J2*7 allele were observed, and the allelic frequency was 2.60%.
Conclusion: 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.