Abstract
Background
Considerable interest is directed toward the enzyme aromatase (CYP19A1) and the development of cancer, due to CYP19A1’s role in estrogen biosynthesis. Several cancers display excessive intra-tumor accumulation of estrogens, and aromatase inhibitors are used for treatment. The CYP19A1 gene exhibits polymorphism and mutations that can alter its expression or aromatase activity and influence estrogen production. We designed this study to investigate the link between CYP19A1 polymorphism and susceptibility to colorectal cancer (CRC) development in Saudis.
Patients and methods
Blood samples from 100 CRC patients and 100 healthy controls were drawn for DNA extractions. Three polymorphic sites, rs4774585, rs936308, and rs4775936, were genotyped using Taqman genotyping by real-time polymerase chain reaction. Allelic and genotype frequencies were calculated and compared in the two groups.
Results
All single nucleotide polymorphisms (SNPs) were polymorphic in Saudis, and comparison of allele frequencies showed several differences when compared to other populations. None of the SNPs were associated with the risk of CRC development in Saudis (P>0.05). Some gender and location (colon or rectal) differences were observed.
Discussion
The results of this study highlighted the genetic heterogeneity existing between populations in the prevalence of different SNPs and their relation to disease state. It showed that, although rs4774585, rs936308, and rs4775936 are involved in CRC development in several populations, their role is not significant in the etiology of CRC in Saudis; however, some SNPs do increase susceptibility or resistance to CRC development as judged from the odds ratio. Further large-scale studies are warranted to clarify the role of the CYP19A1 development in CRC.
Supplementary material
Table S1 Allele frequencies in the three studied SNPs in Saudis compared to frequencies in populations reported in NCBI SNP databaseCitation1
Reference
- NCBI SNP database Available from: https://www.ncbi.nlm.nih.gov/snpAccessed September 5, 2016
Acknowledgments
This research project was supported by a grant (research group no RGP-VPP-068) from the Deanship of Scientific Research, King Saud University. We also acknowledge the contributions of Ms Shaheerah Asiri, Mr Jilani Shaik, Mr Abdullah Al Amri, Dr Mohammad Bazzi, and Dr Habib Semlali during this study.
Disclosure
The authors report no conflicts of interest in this work.