Abstract
BackgroundSingle 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between selected BC prognostic factors and variants of the aforementioned CYP candidate genes.MethodsBlood samples were withdrawn from 221 BC patients and 218 healthy volunteers recruited from the Jordanian population. Genomic DNA was withdrawn and, after quantification and quality control, was genotyped using the Sequenom MassARRAY® system (iPLEX GOLD).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.ResultsThe 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.ConclusionsCertain CYP genes, particularly CYP19A1 and CYP1A2, were associated with BC risk and development in the Jordanian population.
Highlights
Single nucleotide polymorphisms (SNPs) in several Cytochrome P450 (CYP) genes have been associated with altered breast cancer (BC) risk in different populations
Data obtained for this study was available for 221 female patients who were diagnosed with BC
The present study investigated the role of certain CYP19A1, CYP2C9, CYP2C19, CYP1B1, CYP3A4, and CYP1A2 polymorphisms on BC in Jordanian patients and healthy volunteers
Summary
Single nucleotide polymorphisms (SNPs) in several CYP genes have been associated with altered breast cancer (BC) risk in different populations. 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. The CYP19A1 gene encodes for the enzyme aromatase, the latter of which is targeted in BC therapy by aromatase inhibitors (AI) due to its critical role in estrogen biosynthesis [6]. In tamoxifentreated BC patients, CYP2C9 polymorphisms were thought to influence rates of disease-free survival as well as tumor characteristics, but no significant association was found in the Asian population [13, 16]
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