Genetic Polymorphisms of CYP2S1, CYP2J2 and CYP2R1 Genes in Three Chinese Populations: Han, Tibetan and Uighur

Abstract

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.

Keywords::

• genetic polymorphism
• homology modeling
• linkage disequilibrium

Supplementary data

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https://www.futuremedicine.com/doi/suppl/10.2217/pgs-2018-0063

Financial & competing interests disclosure

This work was supported by the National Key Research and Development Program (grant numbers 2016YFC0905000, 2016YFC0905003), and the National Natural Science Foundation of China (grant 81702483). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.

Additional information

Funding

This work was supported by the National Key Research and Development Program (grant numbers 2016YFC0905000, 2016YFC0905003), and the National Natural Science Foundation of China (grant 81702483). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.