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Association of CYP gene polymorphisms with breast cancer risk and prognostic factors in the Jordanian population
BMC Medical Genetics ( IF 2.023 ) Pub Date : 2019-09-02 , DOI: 10.1186/s12881-019-0884-x
Laith N. AL-Eitan , Doaa M. Rababa’h , Mansour A. Alghamdi , Rame H. Khasawneh

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 Blood samples were withdrawn from 221 BC patients and 218 healthy volunteers recruited from the Jordanian population. Genomic DNA was withdrawn and, after quantification and quality control, was genotyped using the Sequenom MassARRAY® system (iPLEX GOLD).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.

中文翻译:

CYP基因多态性与约旦人群乳腺癌风险和预后因素的关系

几个CYP基因中的单核苷酸多态性(SNPs)与不同人群中乳腺癌(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匮乏。因此,本研究旨在确定约旦人群中与BC相关的CYP19A1,CYP2C19,CYP2C9,CYP1B1,CYP3A4和CYP1A2基因内是否存在任何单核苷酸多态性(SNP)。此外,这项工作调查了选定的BC预后因素与上述CYP候选基因的变异之间的关联。从221名不列颠哥伦比亚省的患者中抽取了血液样本,并从约旦人口中抽取了218名健康志愿者。取出基因组DNA,在定量和质量控制后,使用SequenomMassARRAY®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风险显着相关。但是,对于筛选的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,一些筛查的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,与约旦人口中的BC风险和发育有关。004)与BC风险显着相关。但是,对于筛选的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,一些筛查的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,与约旦人口中的BC风险和发育有关。004)与BC风险显着相关。但是,对于筛选的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,一些筛查的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,与约旦人口中的BC风险和发育有关。
更新日期:2019-09-02
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