Guan Su, Huang Min, Li Xin, Chen Xiao, Chan Eli, Zhou Shu-Feng
Institute of Clinical Pharmacology, School of Pharmaceutical Sciences, Sun Yat-sen University, 74 Zhongshan Road, section 2, Guangzhou 510080, People's Republic of China.
Pharm Res. 2006 Sep;23(9):1983-90. doi: 10.1007/s11095-006-9083-5. Epub 2006 Aug 9.
This study aimed to investigate the allele frequencies of CYP2B6 gene in 193 Han Chinese and compared with 91 Uygur Chinese. Five single nucleotide polymorphisms of CYP2B6, 64C > T, 516G > T, 777C > A, 785A > G and 1459C > T, were tested using the polymerase chain reaction-restriction fragment length polymorphism method. The allele frequencies for CYP2B62, CYP2B63, CYP2B64, CYP2B65, CYP2B66, CYP2B67 and CYP2B69 in Han and Uygur Chinese were 0.034 and 0.027, 0 and 0.011, 0.091 and 0.033, 0.003 and 0.049, 0.184 and 0.214, 0 and 0.022, and 0.018 and 0.044, respectively, with CYP2B64, CYP2B65, and CYP2B67 being significantly different between these two races (P < 0.05). CYP2B6*6 was the most prevalent allele among all detected variants in Han and Uygur Chinese. The most frequent genotypes were CYP2B6*1/CYP2B6*1 (50.8%), CYP2B6*1/CYP2B6*6 (24.4%), and CYP2B6*1/CYP2B6*4 (7.3%) in Han subjects, whereas the most frequent genotypes in Uygur subjects were CYP2B6*1/CYP2B6*1 (36.3%), CYP2B6*1/CYP2B6*6 (25.3%), CYP2B6*1/CYP2B6*5 (5.5%) and CYP2B6*6/CYP2B6*6 (5.5%). The frequencies of 64C > T mutation in Han and Uygur Chinese were significantly lower than that in American Caucasian (P < 0.05). These results indicate that there were marked ethnic differences in the mutant frequencies of CYP2B6 between Chinese and other ethnic groups. Further studies are warranted to explore the clinical impact of such ethnic differences.
本研究旨在调查193名汉族人群中CYP2B6基因的等位基因频率，并与91名维吾尔族人群进行比较。采用聚合酶链反应-限制性片段长度多态性方法检测了CYP2B6基因的5个单核苷酸多态性，即64C>T、516G>T、777C>A、785A>G和1459C>T。汉族和维吾尔族人群中CYP2B62、CYP2B63、CYP2B64、CYP2B65、CYP2B66、CYP2B67和CYP2B69的等位基因频率分别为0.034和0.027、0和0.011、0.091和0.033、0.003和0.049、0.184和0.214、0和0.022、0.018和0.044，其中CYP2B64、CYP2B65和CYP2B67在这两个种族之间存在显著差异（P<0.05）。CYP2B6*6是汉族和维吾尔族人群中所有检测到的变异等位基因中最常见的。汉族受试者中最常见的基因型为CYP2B6*1/CYP2B6*1（50.8%）、CYP2B6*1/CYP2B6*6（24.4%）和CYP2B6*1/CYP2B6*4（7.3%），而维吾尔族受试者中最常见的基因型为CYP2B6*1/CYP2B6*1（36.3%）、CYP2B6*1/CYP2B6*6（25.3%）、CYP2B6*1/CYP2B6*5（5.5%）和CYP2B6*6/CYP2B6*6（5.5%）。汉族和维吾尔族人群中64C>T突变的频率显著低于美国白种人（P<0.05）。这些结果表明，中国人群与其他种族人群在CYP2B6突变频率上存在显著的种族差异。有必要进一步研究探索这种种族差异的临床影响。
