哥伦比亚人群细胞色素 P450 CYP2B6 基因型和单倍型：新型 CYP2B6 等位基因变异体的鉴定。
Cytochrome P450 CYP2B6 genotypes and haplotypes in a Colombian population: identification of novel variant CYP2B6 alleles.
机构信息
Departments of Pharmacology, University of Extremadura. Avda. de Elvas, Badajoz, Colombia.
出版信息
Pharmacogenet Genomics. 2011 Dec;21(12):773-8. doi: 10.1097/FPC.0b013e32834b3efc.
OBJECTIVE
Information on CYP2B6 allele frequencies and detrimental genotypes in mixed human populations is scarce. The aim of this study was to analyze the frequencies and haplotypes of nonsynonymous CYP2B6 single nucleotide polymorphisms (SNPs) in a Colombian population.
METHODS
One hundred and fifty-two healthy individuals were analyzed for five nonsynonymous CYP2B6 SNPs, namely rs8192709, rs3745274, rs2279343 rs28399499, and rs3211371.
RESULTS
Besides eight known variant alleles, we identified two as yet unknown variant alleles combining, respectively, the SNPs rs3745274 and rs3211371 and rs8192709 and rs3745274. Comparison of Colombian mestizo individuals with other mestizo population indicates statistically significant differences (P<0.001) for the gain-of-function CYP2B6*4 allele and for combined detrimental CYP2B6 alleles. In addition, we observed a low linkage between the SNPs rs3745274 and rs2279343, which are often assumed as linked.
CONCLUSION
In conclusion, large interethnic and intraethnic variability exists for CYP2B6 polymorphisms, thus reinforcing the need for tailored genotyping protocols for CYP2B6 testing as a biomarker of drug response.
目的
混合人群中 CYP2B6 等位基因频率和有害基因型的信息稀缺。本研究旨在分析哥伦比亚人群中非同义 CYP2B6 单核苷酸多态性（SNP）的频率和单倍型。
方法
分析了 152 名健康个体的 5 个非同义 CYP2B6 SNP，即 rs8192709、rs3745274、rs2279343、rs28399499 和 rs3211371。
结果
除了已知的 8 个变异等位基因外，我们还发现了两个尚未被发现的变异等位基因，分别结合了 rs3745274 和 rs3211371 以及 rs8192709 和 rs3745274。与其他混血人群相比，哥伦比亚梅斯蒂索人的比较表明，获得功能的 CYP2B6*4 等位基因和有害的 CYP2B6 等位基因的组合存在统计学显著差异（P<0.001）。此外，我们观察到 rs3745274 和 rs2279343 之间的低连锁，这两个 SNP 通常被认为是连锁的。
结论
总之，CYP2B6 多态性存在较大的种族间和种族内变异性，因此需要针对 CYP2B6 测试制定个体化的基因分型方案，作为药物反应的生物标志物。
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