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ABSTRACT
Background
The expression of CYP19A1 has implications for the prognosis of female bladder cancer. However, this study aimed to explore the association between single nucleotide polymorphisms (SNPs) in CYP19A1 and bladder cancer risk, as no prior research has addressed this association.
Research design and methods
We selected and genotyped five CYP19A1 SNPs (rs4646, rs6493487, rs1062033, rs17601876, and rs3751599) in 217 patients and 550 controls using the Agena MassARRAY system. Logistic regression analysis was employed to calculate the odds ratio (OR) and 95% confidence intervals (CIs). Bioinformatics predicted SNP functions and CYP19A1 involving pathways.
Results
Our study revealed a significant association between bladder cancer risk and four SNPs (rs4646 (AC vs. CC: OR = 1.71, FDR-p = 0.005), rs6493487 (G vs. A: OR = 0.68, FDR-p = 0.011), rs1062033 (G vs. C: OR = 0.36, FDR-p < 0.001), and rs17601876 (GA vs. GG: OR = 1.66, FDR-p = 0.008)) in CYP19A1. The three SNPs (rs4646, rs1062033, and rs17601876) were significantly correlated with CYP19A1 expression levels in normal whole blood (p < 0.05). Moreover, CYP19A1 were found to primarily participate in the steroid hormone biosynthesis and metabolic pathways.
Conclusions
Consequently, CYP19A1 gene polymorphisms may play a crucial role in the genetic susceptibility to bladder cancer.
Disclaimer
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| Body mass index | = | : BMI |
| Confidence intervals | = | : CIs |
| Cytochrome P450 19A1 | = | : CYP19A1 |
| Disease-free survival | = | : DFS |
| Hardy-Weinberg equilibrium | = | : HWE |
| Immunoglobulin A nephropathy | = | : IgAN |
| Kyoto Encyclopedia of Genes and Genomes: | = | KEGG |
| Odds ratio: | = | OR |
| Single nucleotide polymorphisms: | = | SNPs |
| Statistical Package for the Social Sciences: | = | SPSS |
| Type 2 diabetes: | = | T2DM |
| World Health Organization: | = | WHO |
Acknowledgements
We are grateful to all participants for their invaluable support. Additionally, we would like to extend our heartfelt thanks to the Shaanxi Provincial Cancer Hospital for their assistance in collecting and providing the samples, which was instrumental to our research.
Data availability
The datasets analyzed during the current study are available from the corresponding author upon reasonable request.