Ramírez Gabriel, Vital Marcelo, Vergara Carolina, Carusso Florencia, Neffa Florencia, Valle Adriana Della, Esperón Patricia
Molecular Genetic Unit, School of Chemistry, Universidad de la República, Montevideo, 11800, Uruguay.
Grupo Colaborativo Uruguayo, Dirección Nacional de Sanidad de las Fuerzas Armadas, Montevideo, 11600, Uruguay.
Per Med. 2023 Nov;20(6):477-483. doi: 10.2217/pme-2023-0063. Epub 2023 Nov 10.
To report the distribution of allele frequencies of gene and to evaluate their influence on the clinical outcomes of a group of breast cancer patients receiving adjuvant tamoxifen treatment from Uruguay. 199 samples were genotyped through real-time polymerase chain reaction assays. Metabolization profiles were inferred from the genotypes. Correlations were evaluated using Pearson's χ test. Phenotype frequencies were 0.65 normal (NM), 0.30 intermediate (IM) and 0.05 poor metabolizers (PM). Similar clinical outcomes between NM and (PM + IM) patient groups (odds ratio = 1.011, 95% CI = 0.2703-3.7826; p = 0.987) were found. CYP2D6 allele frequencies were analyzed for the first time in a cohort from Uruguay. Results did not support any impact of gene polymorphisms on clinical outcomes.
报告基因的等位基因频率分布,并评估其对乌拉圭一组接受辅助他莫昔芬治疗的乳腺癌患者临床结局的影响。通过实时聚合酶链反应分析对199个样本进行基因分型。根据基因型推断代谢谱。使用Pearson卡方检验评估相关性。表型频率为0.65正常代谢者(NM)、0.30中间代谢者(IM)和0.05慢代谢者(PM)。发现NM与(PM + IM)患者组之间的临床结局相似(优势比 = 1.011,95%置信区间 = 0.2703 - 3.7826;p = 0.987)。首次在乌拉圭的一个队列中分析了CYP2D6等位基因频率。结果不支持基因多态性对临床结局有任何影响。