中国汉族健康人群细胞色素P450 2S1的基因多态性研究
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摘要
目的探索中国汉族健康人群细胞色素P4502S1(CYP2S1)基因多态性及其单倍型的分布。方法用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF-MS)对204例无直接血缘关系的中国汉族健康受试者进行CYP2S1基因多态性检测,并用Phase 2.1软件分析单倍型的分布频率。结果 rs184623、rs338583、rs338598、rs338600在中国汉族健康人群的分布频率分别为21.3%,21.2%,55.5%,23.0%;TTGA、TTTA、CCTA、TTTG单倍型的分布频率分别为37.3%,26.1%,10.2%,8.8%。结论 rs184623、rs338583、rs338598、rs338600在中国汉族健康人群中的分布频率较高,TTGA单倍型分布频率最高。
Objective To detect the polymorphisms and haplotype of cytochrome P450 2 S1( CYP2 S1) in Chinese healthy Han population.Methods Two hundred and four Chinese Han healthy volunteers were entrolled in this study. Matrix-assisted laser desorption ionization time-of-flight mass spectrometry( MALDI-TOF-MS) was used to identify the polymorphisms of CYP2 S1. The haplotype frequencies were analyzed by Phase 2. 1. Results The frequency distribution of CYP2 S1 rs184623, rs338583, rs338598, rs338600 variations were 21. 3%,21. 2%,55. 5%,23. 0%. The frequency distribution of CYP2 S1 TTGA,TTTA,CCTA,TTTG haplotype were 37. 3%,26. 1%,10. 2%,8. 8%.Conclusion The frequencies of these variants were high in Chinese healthy Han population. The frequency of TTGA haplotype was high as well.
Objective To detect the polymorphisms and haplotype of cytochrome P450 2 S1( CYP2 S1) in Chinese healthy Han population.Methods Two hundred and four Chinese Han healthy volunteers were entrolled in this study. Matrix-assisted laser desorption ionization time-of-flight mass spectrometry( MALDI-TOF-MS) was used to identify the polymorphisms of CYP2 S1. The haplotype frequencies were analyzed by Phase 2. 1. Results The frequency distribution of CYP2 S1 rs184623, rs338583, rs338598, rs338600 variations were 21. 3%,21. 2%,55. 5%,23. 0%. The frequency distribution of CYP2 S1 TTGA,TTTA,CCTA,TTTG haplotype were 37. 3%,26. 1%,10. 2%,8. 8%.Conclusion The frequencies of these variants were high in Chinese healthy Han population. The frequency of TTGA haplotype was high as well.
引文
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[2]MADANAYAKE T W,LINDQUIST I E,DEVITT N P,et al.A transcriptomic approach to elucidate the physiological significance of human cytochrome P450 2S1 in bronchial epithelial cells[J/OL].BMC Genomics,2013,14:e833.2013-11-26[2017-02-22].https://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2164-14-833.
[3]BUI P,IMAIZUMI S,BEEDANAGARI S R,et al.Human CYP2S1metabolizes cyclooxygenase-and lipoxygenase-derived eicosanoids[J].Drug Metab Dispos,2011,39(2):180-190.
[4]KARLGEN M,MIURA S,INGELMAN-SUNDBERG M.Novel extrahepatic cytochrome P450s[J].Toxicol Appl Pharmacol,2005,207(2 Suppl):S57-S61.
[5]KUMARAKULASINGHAM M,ROONEY P H,DUNDAS S R,et al.Cytochrome p450 profile of colorectal cancer:identification of markers of prognosis[J].Clin Cancer Res,2005,11(10):3758-3765.
[6]SMITH G,WOLF C R,DEENI Y Y,et al.Cutaneous expression of cytochrome P450 CYP2S1:individuality in regulation by therapeutic agents for psoriasis and other skin diseases[J].Lancet,2003,361(9366):1336-1343.
[7]HANZAWA Y,SASAKI T,HIRATSUKA M,et al.Three novel single nucleotide polymorphisms(SNPs)of CYP2S1 gene in Japanese individuals[J].Drug Metab Pharmacokinet,2007,22(2):136-140.
[8]SAARIKOSKI S T,SUITIAL T,HOLMILA R,et al.Identification of genetic polymorphisms of CYP2S1 in a Finnish Caucasian population[J].Mutat Res,2004,554(1-2):267-277.
[9]JANG Y J,CHA E Y,KIM W Y,et al.CYP2S1 gene polymorphisms in a Korean population[J].Ther Drug Monit,2007,29(3):292-298.