Association between CYP1A2 gene variants -163 C/A (rs762551) and -3860 G/A (rs2069514) and bladder cancer susceptibility.
CYP1A2-3860 G/A bladder cancer (BLCA)
Muscle-invasive bladder cancer (MIBLCA)
Non-muscle invasive bladder cancer (NMIBLCA)
Journal
BMC cancer
ISSN: 1471-2407
Titre abrégé: BMC Cancer
Pays: England
ID NLM: 100967800
Informations de publication
Date de publication:
22 Jul 2024
22 Jul 2024
Historique:
received:
09
03
2024
accepted:
24
06
2024
medline:
23
7
2024
pubmed:
23
7
2024
entrez:
22
7
2024
Statut:
epublish
Résumé
Bladder cancer (BLCA) poses a significant global health challenge due to its high incidence, poor prognosis, and limited treatment options. This study aims to investigate the association between two specific polymorphisms, CYP1A2-163 C/A and CYP1A2-3860G/A, within the Cytochrome P450 1A2 (CYP1A2) gene and susceptibility to BLCA. The study employed a case-control design, genotyping 340 individuals using Polymerase Chain Reaction-High-Resolution Melting Curve (PCR-HRM). Various genetic models were applied to evaluate allele and genotype frequencies. Genetic linkage analysis was facilitated using R packages. The study reveals a significant association with the - 163 C/A allele, particularly in the additive model. Odds ratio (OR) analysis links CYP1A2-163 C/A (rs762551) and CYP1A2-3860G/A(rs2069514) polymorphisms to BLCA susceptibility. The rs762551 C/A genotype is prevalent in 55% of BLCA cases and exhibits an OR of 2.21. The A/A genotype has an OR of 1.54. Regarding CYP1A2-3860G/A, the G/A genotype has an OR of 1.54, and the A/A genotype has an OR of 2.08. Haplotype analysis shows a predominant C-C haplotype at 38.2%, followed by a C-A haplotype at 54.7%, and a less frequent A-A haplotype at 7.1%. This study underscores associations between CYP1A2 gene variants, particularly rs762551 (CYP1A2-163 C/A), and an increased susceptibility to BLCA. Haplotype analysis of 340 individuals reveals a predominant C-C haplotype at 38.2%, followed by a C-A haplotype at 54.7%, and a less frequent A-A haplotype at 7.1%. In conclusion, the - 163 C/A allele, C/A genotype of rs762551, and G/A genotype of rs2069514 emerge as potential genetic markers associated with elevated BLCA risk.
Sections du résumé
BACKGROUND
BACKGROUND
Bladder cancer (BLCA) poses a significant global health challenge due to its high incidence, poor prognosis, and limited treatment options.
AIMS AND OBJECTIVES
OBJECTIVE
This study aims to investigate the association between two specific polymorphisms, CYP1A2-163 C/A and CYP1A2-3860G/A, within the Cytochrome P450 1A2 (CYP1A2) gene and susceptibility to BLCA.
METHODS
METHODS
The study employed a case-control design, genotyping 340 individuals using Polymerase Chain Reaction-High-Resolution Melting Curve (PCR-HRM). Various genetic models were applied to evaluate allele and genotype frequencies. Genetic linkage analysis was facilitated using R packages.
RESULTS
RESULTS
The study reveals a significant association with the - 163 C/A allele, particularly in the additive model. Odds ratio (OR) analysis links CYP1A2-163 C/A (rs762551) and CYP1A2-3860G/A(rs2069514) polymorphisms to BLCA susceptibility. The rs762551 C/A genotype is prevalent in 55% of BLCA cases and exhibits an OR of 2.21. The A/A genotype has an OR of 1.54. Regarding CYP1A2-3860G/A, the G/A genotype has an OR of 1.54, and the A/A genotype has an OR of 2.08. Haplotype analysis shows a predominant C-C haplotype at 38.2%, followed by a C-A haplotype at 54.7%, and a less frequent A-A haplotype at 7.1%. This study underscores associations between CYP1A2 gene variants, particularly rs762551 (CYP1A2-163 C/A), and an increased susceptibility to BLCA. Haplotype analysis of 340 individuals reveals a predominant C-C haplotype at 38.2%, followed by a C-A haplotype at 54.7%, and a less frequent A-A haplotype at 7.1%.
CONCLUSION
CONCLUSIONS
In conclusion, the - 163 C/A allele, C/A genotype of rs762551, and G/A genotype of rs2069514 emerge as potential genetic markers associated with elevated BLCA risk.
Identifiants
pubmed: 39039510
doi: 10.1186/s12885-024-12553-7
pii: 10.1186/s12885-024-12553-7
doi:
Substances chimiques
Cytochrome P-450 CYP1A2
EC 1.14.14.1
CYP1A2 protein, human
EC 1.14.14.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
880Subventions
Organisme : This work was supported by the Characteristics Innovation project of the Guangdong Province Education Department (2019KTSCX140)
ID : 2019KTSCX140
Informations de copyright
© 2024. The Author(s).
Références
Murta-Nascimento C, Schmitz-Dräger BJ, Zeegers MP, Steineck G, Kogevinas M, Real FX et al. Epidemiology of urinary bladder cancer: from tumor development to patient’s death. World J Urol [Internet]. 2007;25(3):285–95. https://doi.org/10.1007/s00345-007-0168-5 .
Elsalem L, Alfaqih MA, Al Bashir S, Halalsheh O, Basheer HA, Mhedat K et al. Genetic variation in the ADIPOQ gene and serum adiponectin increase the risk of bladder cancer. J Appl Biomed [Internet]. 2022;20(3):106–13. https://doi.org/10.32725/jab.2022.012 .
Siegel R, Naishadham D, Jemal A. Cancer statistics for Hispanics/Latinos, 2012. CA Cancer J Clin [Internet]. 2012;62(5):283–98. https://doi.org/10.3322/caac.21153 .
Berdik C. Unlocking bladder cancer. Nature [Internet]. 2017;551(7679):S34–5. https://doi.org/10.1038/551s34a .
Inamura K. Bladder Cancer: New Insights into Its Molecular Pathology. Cancers (Basel) [Internet]. 2018;10(4):100. https://pubmed.ncbi.nlm.nih.gov/29614760 .
Janisch F, Shariat SF, Schernhammer E, Rink M, Fajkovic H. The interaction of gender and smoking on bladder cancer risks. Curr Opin Urol [Internet]. 2019;29(3):249–55. https://doi.org/10.1097/mou.0000000000000602 .
Ashrafizadeh M, Zarrabi A, Karimi-Maleh H, Taheriazam A, Mirzaei S, Hashemi M et al. Author response for (Nano)platforms in bladder cancer therapy: Challenges and opportunities [Internet]. Wiley; 2022. https://doi.org/10.1002/btm2.10353/v2/response1 .
Vukovic V, Ianuale C, Leoncini E, Pastorino R, Gualano MR, Amore R et al. Lack of association between polymorphisms in the CYP1A2 gene and risk of cancer: evidence from meta-analyses. BMC Cancer [Internet]. 2016;16:83. https://pubmed.ncbi.nlm.nih.gov/26865042 .
Tao L, Xiang YB, Chan KK, Wang R, Gao YT, Yu MC et al. Cytochrome P4501A2 phenotype and bladder cancer risk: The Shanghai bladder cancer study. Int J Cancer [Internet]. 2011/06/21. 2012;130(5):1174–83. https://pubmed.ncbi.nlm.nih.gov/21480221 .
Datta N, Chakraborty S, Basu M, Ghosh MK. Tumor Suppressors Having Oncogenic Functions: The Double Agents. Cells [Internet]. 2020;10(1):46. https://pubmed.ncbi.nlm.nih.gov/33396222 .
Tripathi A, Kashyap A, Tripathi G, Yadav J, Bibban R, Aggarwal N et al. Tumor reversion: a dream or a reality. Biomark Res [Internet]. 2021;9(1):31. https://pubmed.ncbi.nlm.nih.gov/33958005 .
Gunes A, Ozbey G, Vural EH, Uluoglu C, Scordo MG, Zengil H et al. Influence of genetic polymorphisms, smoking, gender and age on CYP1A2 activity in a Turkish population. Pharmacogenomics [Internet]. 2009;10(5):769–78. https://doi.org/10.2217/pgs.09.22 .
Yin X, Xiong W, Wang Y, Tang W, Xi W, Qian S et al. Association of CYP2E1 gene polymorphisms with bladder cancer risk: A systematic review and meta-analysis. Medicine (Baltimore) [Internet]. 2018;97(39):e11910–e11910. https://pubmed.ncbi.nlm.nih.gov/30278485 .
Chevalier D, Cauffiez C, Allorge D, Lo-Guidice JM, Lhermitte M, Lafitte JJ, et al. Five novel natural allelic variants?951A>C, 1042G>A (D348N), 1156A>T (I386F), 1217G>A (C406Y) and 1291C>T (C431Y)?of the human CYP1A2 gene in a French Caucasian population. Hum Mutat [Internet]. 2001;17(4):355–6. Available from: https://doi.org/10.1002/humu.49
Sankhwar M, Sankhwar SN, Bansal SK, Gupta G, Rajender S. Polymorphisms in the XPC gene affect urinary bladder cancer risk: a case-control study, meta-analyses and trial sequential analyses. Sci Rep [Internet]. 2016;6:27018. https://pubmed.ncbi.nlm.nih.gov/27246180 .
Pavanello S, Mastrangelo G, Placidi D, Campagna M, Pulliero A, Carta A et al. CYP1A2 polymorphisms, occupational and environmental exposures and risk of bladder cancer. Eur J Epidemiol [Internet]. 2010;25(7):491–500. https://doi.org/10.1007/s10654-010-9479-8 .
Nebert DW, Dalton TP. The role of cytochrome P450 enzymes in endogenous signalling pathways and environmental carcinogenesis. Nat Rev Cancer [Internet]. 2006;6(12):947–60. https://doi.org/10.1038/nrc2015 .
Vilčková M, Škereňová M, Dobrota D, Kaplán P, Jurečeková J, Kliment J et al. Polymorphisms in the gene encoding CYP1A2 influence prostate cancer risk and progression. Oncol Lett [Internet]. 2023;25(2):85. https://pubmed.ncbi.nlm.nih.gov/36760517 .
Dobrinas M, Cornuz J, Oneda B, Kohler Serra M, Puhl M, Eap CB. Impact of Smoking, Smoking Cessation, and Genetic Polymorphisms on CYP1A2 Activity and Inducibility. Clin Pharmacol & Ther [Internet]. 2011;90(1):117–25. https://doi.org/10.1038/clpt.2011.70 .
Guengerich FP, Parikh A, Turesky RJ, Josephy PD. Inter-individual differences in the metabolism of environmental toxicants: cytochrome P450 1A2 as a prototype. Mutat Res Mol Mech Mutagen [Internet]. 1999;428(1–2):115–24. https://doi.org/10.1016/s1383-5742(99)00039-3 .
Zeng Y, Jiang HY, Wei L, Xu WD, Wang YJ, Wang YD et al. Association between the CYP1A2 rs762551 Polymorphism and Bladder Cancer Susceptibility: a Meta-Analysis Based on Case-Control Studies. Asian Pacific J Cancer Prev [Internet]. 2015;16(16):7249–54. https://doi.org/10.7314/apjcp.2015.16.16.7249 .
Murakami K, Furuya H, Hokutan K, Goodison S, Pagano I, Chen R et al. Association of SNPs in the PAI1 Gene with Disease Recurrence and Clinical Outcome in Bladder Cancer. Int J Mol Sci [Internet]. 2023;24(5):4943. https://pubmed.ncbi.nlm.nih.gov/36902377 .
Sun WX, Chen YH, Liu ZZ, Xie JJ, Wang W, Du YP et al. Association between the CYP1A2 polymorphisms and risk of cancer: a meta-analysis. Mol Genet Genomics [Internet]. 2014;290(2):709–25. https://doi.org/10.1007/s00438-014-0956-8 .
Pavanello S, Pulliero A, Lupi S, Gregorio P, Clonfero E. Influence of the genetic polymorphism in the 5′-noncoding region of the CYP1A2 gene on CYP1A2 phenotype and urinary mutagenicity in smokers. Mutat Res Toxicol Environ Mutagen [Internet]. 2005;587(1–2):59–66. https://doi.org/10.1016/j.mrgentox.2005.08.008 .
Zhenzhen L, Xianghua L, Ning S, Zhan G, Chuanchuan R, Jie L. Current evidence on the relationship between three polymorphisms in the CYP1A2 gene and the risk of cancer. Eur J Cancer Prev [Internet]. 2013;22(6):607–19. https://doi.org/10.1097/cej.0b013e32835f3bd2 .
Ghotbi R, Christensen M, Roh HK, Ingelman-Sundberg M, Aklillu E, Bertilsson L. Comparisons of CYP1A2 genetic polymorphisms, enzyme activity and the genotype-phenotype relationship in Swedes and Koreans. Eur J Clin Pharmacol [Internet]. 2007;63(6):537–46. https://doi.org/10.1007/s00228-007-0288-2 .