Genetic polymorphisms of CYP2S1, CYP2J2 and CYP2R1 genes in three Chinese populations: Han, Tibetan and Uighur.

Aim: Cytochrome P450 enzymes CYP2S1, CYP2J2 and CYP2R1 are of interest due to their unknown enzymatic function and disease-specific expression property. The aim of this study was to investigate the genetic variations of CYP2S1, CYP2J2 and CYP2R1 genes, and their polymorphic distribution in different Chinese populations. Materials & methods: All of the exons, exon-intron boundaries and 1 kb 5'-flanking region of the three genes were sequenced in 150 Chinese subjects. Results: There were 21, 15 and nine genetic variants identified in CYP2S1, CYP2J2 and CYP2R1 genes, respectively. The genetic polymorphisms of CYP2S1 and CYP2J2 showed significant difference. Thr353Ala variant in CYP2S1 protein was predicted to be consistently damaged. The hydrogen bond interactions were decreased in two mutants: Thr353Ala and Cys372Ser.-177C>T in CYP2S1 affected transcription factor EGR1 binding site. Conclusion: This study highlights the importance of genetic polymorphism information on the CYP2S1, CYP2J2 and CYP2R1 genes in Chinese populations.