Alvarado Ángel Tito, Muñoz Ana María, Loja Berta, Miyasato Jessica Michiko, García Jorge Antonio, Cerro Roberto Andrés, Quiñones Luis Abel, Varela Nelson Miguel
Departamento de Biología y Química, Facultad de Ingeniería, Universidad San Ignacio de Loyola (USIL), Lima, Perú.
Biomedica. 2019 Sep 1;39(3):601-610. doi: 10.7705/biomedica.4636.
Introduction: CYP2C9 metabolizes approximately 15% of the prescribed drugs. Its gene has alleles whose frequencies differ between ethnic groups and populations. The alleles CYP2C92 and CYP2C93 account for an enzyme with decreased activity and their frequencies have not been determined in the Peruvian mestizo population. Objective: To characterize the frequencies of the allelic variants 2 (rs1799853) and 3 (rs1057910) of CYP2C9 gen in the Peruvian mestizo population from Lima, Tacna y Junín. Materials and methods: We conducted an observational, prospective cross-sectional study with non-probabilistic, by convenience, and incidental sampling. We included 218 subjects according to the inclusion and exclusion criteria, all of whom had signed the informed consent. We obtained the genomic DNA from oral mucosa swab. For the detection of the CYP2C92 and CYP2C93 genotypes, we used real-time-polymerase chain reaction with TaqMan® probes. Results: The genotyping revealed that CYP2C92 and CYP2C93 variants have low frequencies (0.046 and 0.062, respectively). The frequency of intermediate metabolizers was 15.13% (CYP2C9*1/2: 5.96%; CYP2C91/3: 9.17%) and that of slow metabolizers was 3.22% (CYP2C92/2: 1.38%; CYP2C93/3: 1.38%; CYP2C92/*3: 0.46%). Conclusions: It was possible to determine the genotypic and allelic frequencies for the variants *2 and *3 of the CYP2C9 gene in a non-probabilistic sample of the Peruvian mestizo population. The frequencies obtained (0.046 and 0.062, respectively) corresponded to those expected for a South American mestizo population with Amerindian, European, African and Asian ancestry.
CYP2C9参与代谢约15%的处方药。其基因存在等位基因，这些等位基因在不同种族和人群中的频率有所差异。CYP2C92和CYP2C93等位基因所编码的酶活性降低，且秘鲁混血人群中其频率尚未确定。目的：确定利马、塔克纳和胡宁地区秘鲁混血人群中CYP2C9基因2（rs1799853）和3（rs1057910）等位基因变体的频率。材料与方法：我们进行了一项观察性、前瞻性横断面研究，采用非概率性、方便性和偶遇性抽样。根据纳入和排除标准，我们纳入了218名受试者，他们均签署了知情同意书。我们从口腔黏膜拭子中获取基因组DNA。为检测CYP2C92和CYP2C93基因型，我们使用了带有TaqMan®探针的实时聚合酶链反应。结果：基因分型显示CYP2C92和CYP2C93变体频率较低（分别为0.046和0.062）。中间代谢者的频率为15.13%（CYP2C91/2：5.96%；CYP2C91/3：9.17%），慢代谢者的频率为3.22%（CYP2C92/2：1.38%；CYP2C93/3：1.38%；CYP2C92/3：0.46%）。结论：在秘鲁混血人群的非概率样本中确定CYP2C9基因2和3变体的基因型和等位基因频率是可行的。所获得的频率（分别为0.046和0.062）与具有美洲印第安人、欧洲人、非洲人和亚洲人血统的南美混血人群预期频率相符。
