Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid, 22110, Jordan.
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, P.O. Box 3030, Irbid, 22110, Jordan.
BMC Med Genet. 2019 Sep 2;20(1):148. doi: 10.1186/s12881-019-0884-x.
Single nucleotide polymorphisms (SNPs) in several CYP genes have been associated with altered breast cancer (BC) risk in different populations. Despite this, there is a dearth of information on the roles of these SNPs in Jordanian BC patients. Therefore, this study aims to determine if there is any single nucleotide polymorphism (SNP) within CYP19A1, CYP2C19, CYP2C9, CYP1B1, CYP3A4, and CYP1A2 genes associated with BC in the Jordanian population. In addition, this work investigates the association between selected BC prognostic factors and variants of the aforementioned CYP candidate genes.
Blood samples were withdrawn from 221 BC patients and 218 healthy volunteers recruited from the Jordanian population. Genomic DNA was withdrawn and, after quantification and quality control, was genotyped using the Sequenom MassARRAY® system (iPLEX GOLD). Statistical analysis was then carried out to assess allelic and genotypic frequencies as well as genetic association between cases and controls.
The CYP19A1 SNP rs7176005 (p < 0.0045) and the CYP1A2 SNP rs762551 (p = 0.004) were significantly associated with BC risk. However, no such association was found for the screened SNPs of the CYP2C9, CYP1B1, CYP2C19 and CYP3A4 genes. Regarding the prognostic factors of BC, several of the screened SNPs were associated with different pathological and clinical features.
Certain CYP genes, particularly CYP19A1 and CYP1A2, were associated with BC risk and development in the Jordanian population.
在不同人群中，几种 CYP 基因的单核苷酸多态性（SNPs）与乳腺癌（BC）风险的改变有关。尽管如此，关于这些 SNP 在约旦 BC 患者中的作用的信息仍然很少。因此，本研究旨在确定 CYP19A1、CYP2C19、CYP2C9、CYP1B1、CYP3A4 和 CYP1A2 基因内是否存在与约旦人群中的 BC 相关的单核苷酸多态性（SNP）。此外，本工作还研究了选定的 BC 预后因素与上述 CYP 候选基因变体之间的关联。
从约旦人群中招募了 221 名 BC 患者和 218 名健康志愿者，抽取血液样本。提取基因组 DNA，在定量和质量控制后，使用 Sequenom MassARRAY®系统（iPLEX GOLD）进行基因分型。然后进行统计分析，以评估等位基因和基因型频率以及病例与对照之间的遗传关联。
CYP19A1 SNP rs7176005（p<0.0045）和 CYP1A2 SNP rs762551（p=0.004）与 BC 风险显著相关。然而，筛选的 CYP2C9、CYP1B1、CYP2C19 和 CYP3A4 基因的 SNP 没有发现这种关联。关于 BC 的预后因素，筛选的一些 SNP 与不同的病理和临床特征有关。
某些 CYP 基因，特别是 CYP19A1 和 CYP1A2，与约旦人群中的 BC 风险和发展有关。
