Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are potentially associated with colorectal cancer susceptibility.
Humans
Colorectal Neoplasms
/ genetics
Polymorphism, Single Nucleotide
Male
Female
Genetic Predisposition to Disease
Cytochrome P-450 CYP2E1
/ genetics
Fatty Acid-Binding Proteins
/ genetics
Middle Aged
Tumor Suppressor Protein p53
/ genetics
Case-Control Studies
Cross-Sectional Studies
Aged
Adult
Pakistan
/ epidemiology
Genotype
CYP2E1 gene
Colorectal cancer
FABP2 gene
Genetic polymorphisms
Pakistani population
TP53 gene
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
03 Sep 2024
03 Sep 2024
Historique:
received:
05
02
2024
accepted:
16
08
2024
medline:
7
9
2024
pubmed:
7
9
2024
entrez:
6
9
2024
Statut:
epublish
Résumé
Colorectal cancer (CRC) is among the most prevalent cancers with a high mortality rate. Both genetic and environmental factors contribute to CRC development. This study aimed to assess the association of single nucleotide polymorphisms (SNPs) in the fatty acid binding protein-2 (rs1799883), Cytochrome P450 2E1 (rs3813865), TP53 (rs1042522), and Murine double minute 2 (rs1042522) genes with CRC. A cross-sectional case-control study was conducted at the Institute of Molecular Biology and Biotechnology from May 2020 to March 2021, involving CRC patients (N = 100) and controls (N = 100) recruited from the Multan district in Pakistan. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) were employed to investigate the studied SNPs. The association of SNPs in all genes with CRC was examined either individually or in various combinations. Genotypes at three SNPs, rs1799883 in FABP2, rs3813865 in CYP2E1, and rs1042522 in TP53, were found to be associated with the development of CRC, while rs1042522 in MDM2 was not. Patients who were married, smoked, lacked exercise habits or had a family history of CRC were at a greater risk of acquiring the disease. FABP2 gene rs1799883, CYP2E1 gene rs3813865, and TP53 gene rs1042522 polymorphisms are significant in the development of CRC in Pakistani participants.
Identifiants
pubmed: 39242607
doi: 10.1038/s41598-024-70381-y
pii: 10.1038/s41598-024-70381-y
doi:
Substances chimiques
Cytochrome P-450 CYP2E1
EC 1.14.13.-
Fatty Acid-Binding Proteins
0
FABP2 protein, human
0
Tumor Suppressor Protein p53
0
TP53 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
20464Informations de copyright
© 2024. The Author(s).
Références
Xi, Y. & Xu, P. Global colorectal cancer burden in 2020 and projections to 2040. Transl. Oncol. 14, 101174. https://doi.org/10.1016/j.tranon.2021.101174 (2021).
doi: 10.1016/j.tranon.2021.101174
pubmed: 34243011
pmcid: 8273208
Chen, D. et al. Comprehensive analyses of solute carrier family members identify SLC12A2 as a novel therapy target for colorectal cancer. Sci. Rep. 14, 4459. https://doi.org/10.1038/s41598-024-55048-y (2024).
doi: 10.1038/s41598-024-55048-y
pubmed: 38396064
pmcid: 10891168
Bhattacharya, S., Bhattacharya, S., Basu, R., Bera, P. & Halder, A. Colorectal cancer: A study of risk factors in a tertiary care hospital of North Bengal. J. Clin. Diagnos. Res. 8, FC08-10. https://doi.org/10.7860/jcdr/2014/8844.5166 (2014).
doi: 10.7860/jcdr/2014/8844.5166
Tang, K. et al. Genetic polymorphism analysis of cytochrome P4502E1 (CYP2E1) in Chinese Han populations from four different geographic areas of Mainland China. Genomics 95, 224–229. https://doi.org/10.1016/j.ygeno.2010.01.005 (2010).
doi: 10.1016/j.ygeno.2010.01.005
pubmed: 20100563
Okebugwu, P. N., Ayeni, E. T., Okebugwu, P. C. & Kolawole, E. O. Aging: A systematic review on the correlation between geriatric diseases and prostate cancer. ABRs. 11, 55–66. https://doi.org/10.47278/journal.abr/2023.009 (2023).
doi: 10.47278/journal.abr/2023.009
Swantara, M. D., Rita, W. S., Dira, M. A. & Agustina, K. K. Effect of the methanol extract of annona squamosa linn leaf on cervical cancer. Int. J. Vet. Sci. 12(3), 295–301. https://doi.org/10.47278/journal.ijvs/2022.187 (2023).
doi: 10.47278/journal.ijvs/2022.187
Hu, X. et al. Gene polymorphisms of ADIPOQ +45T>G, UCP2 -866G>A, and FABP2 Ala54Thr on the risk of colorectal cancer: A matched case-control study. PLoS ONE. 8, e67275. https://doi.org/10.1371/journal.pone.0067275 (2013).
doi: 10.1371/journal.pone.0067275
pubmed: 23826253
pmcid: 3695067
Vodicka, P. et al. An investigation of DNA damage and DNA repair in chemical carcinogenesis triggered by small-molecule xenobiotics and in cancer: Thirty years with the comet assay. Mut. Res/Genet. Toxicol. Environ. Mutagen. 885, 503564. https://doi.org/10.1016/j.mrgentox.2022.503564 (2023).
doi: 10.1016/j.mrgentox.2022.503564
Suhda, S., Paramita, D. T. & Fachiroh, J. Tetra primer ARMS PCR optimization to detect single nucleotide polymorphisms of the CYP2E1 gene. Asia Pac. J. Can. Prevent. 17, 3065–3069 (2016).
Zhang, G. et al. P53 protein expression affected by TP53 polymorphism is associated with the biological behavior and prognosis of low rectal cancer. Oncol. Lett. 18, 6807–6821. https://doi.org/10.3892/ol.2019.10999 (2019).
doi: 10.3892/ol.2019.10999
pubmed: 31788124
pmcid: 6865730
Asadi, M. et al. TP53 Gene Pro72Arg (rs1042522) single nucleotide polymorphism as not a risk factor for colorectal cancer in the Iranian Azari population. Asia Pac. J. Can. Prev. 18, 3423–3427. https://doi.org/10.22034/APJCP.2017.18.12.3423 (2017).
doi: 10.22034/APJCP.2017.18.12.3423
Elshazli, R. M., Toraih, E. A., Elgaml, A., Kandil, E. & Fawzy, M. S. Genetic polymorphisms of TP53 (rs1042522) and MDM2 (rs2279744) and colorectal cancer risk: An updated meta-analysis based on 59 case-control studies. Gene. 734, 144391. https://doi.org/10.1016/j.gene.2020.144391 (2020).
doi: 10.1016/j.gene.2020.144391
pubmed: 32001373
Somasundaram, K. Tumor suppressor P53: Regulation and function. Front. Biosci. 5, D424–D427. https://doi.org/10.2741/somasund (2000).
doi: 10.2741/somasund
pubmed: 10762600
Agamia, N. F. et al. Effect of oral isotretinoin on the nucleo-cytoplasmic distribution of FoxO1 and FoxO3 Proteins in sebaceous glands of patients with acne vulgaris. Exp. Dermatol. 27, 1344–1351. https://doi.org/10.1111/exd.13787 (2018).
doi: 10.1111/exd.13787
pubmed: 30240097
Atabey, M. et al. Significant association between MDM2 T309G polymorphism and colorectal cancer. J. BUON. 24, 1137–1142 (2019).
pubmed: 31424672
Konopleva, M. et al. MDM2 inhibition: An important step forward in cancer therapy. Leukemia 34, 2858–2874. https://doi.org/10.1038/s41375-020-0949-z (2020).
doi: 10.1038/s41375-020-0949-z
pubmed: 32651541
Bhurgri, Y. et al. Incidence and current trends of colorectal malignancies in an unscreened, low risk Pakistan population. Asia Pac. J. Can. Prev. 12, 703–708 (2011).
Hasan, F. et al. Barriers to colorectal cancer screening in Pakistan. Cureus. 9, e1477. https://doi.org/10.7759/cureus.1477 (2017).
doi: 10.7759/cureus.1477
pubmed: 28944116
pmcid: 5602228
Arshad, K. et al. Association of GSTTI, M1 and polymorphism in GSTPI with chronic periodontal disease in a Pakistani population. Gene. 14, 455. https://doi.org/10.3390/genes14020455 (2023).
doi: 10.3390/genes14020455
Baier, L. J. et al. An amino acid substitution in the human intestinal fatty acid binding protein is associated with increased fatty acid binding, increased fat oxidation, and insulin resistance. J. Clin. Investig. 95, 1281–1287. https://doi.org/10.1172/jci117778 (1995).
doi: 10.1172/jci117778
pubmed: 7883976
pmcid: 441467
Ganah, H. et al. FABP-2 and PPAR-Y genes as risk factors for dyslipidemia in type 2 diabetes mellitus in residents of United Arab Emirates. Int. J. Biol. Pharm. Res. 6, 965–974 (2015).
Xiao, M. et al. Genetic polymorphisms of MDM2 and TP53 genes are associated with risk of nasopharyngeal carcinoma in a Chinese population. BMC Cancer 10, 147. https://doi.org/10.1186/1471-2407-10-147 (2010).
doi: 10.1186/1471-2407-10-147
pubmed: 20398418
pmcid: 2861659
Ahmed, R. N. et al. Factors affecting delay in diagnosis of colorectal cancer: A cross-sectional study from a Tertiary Care Hospital of Karachi, Pakistan. Int. J. Clin. Pract. 75, e14529. https://doi.org/10.1111/ijcp.14529 (2021).
doi: 10.1111/ijcp.14529
pubmed: 34128572
Zubair, H., Aurangzeb, J., Zubair, B. & Imran, M. Association of GSTM1 and GSTT1 genes insertion/deletion polymorphism with colorectal cancer risk: A case-control study of Khyber Pakhtunkhwa population Pakistan. J. Pak. Med. Assoc. 72, 457–463. https://doi.org/10.47391/jpma.1393 (2022).
doi: 10.47391/jpma.1393
pubmed: 35320225
Larifla, L. et al. Gene Polymorphisms of FABP2, ADIPOQ and ANP and risk of hypertriglyceridemia and metabolic syndrome in afro-caribbeans. PLoS ONE. 11, e0163421. https://doi.org/10.1371/journal.pone.0163421 (2016).
doi: 10.1371/journal.pone.0163421
pubmed: 27684940
pmcid: 5042446
Liu, P. J. et al. Effects of polymorphism in FABP2 Ala54Thr on serum lipids and glycemic control in low glycemic index diets are associated with gender among Han Chinese with type 2 diabetes mellitus. Diabetes Metabol. Syndr. Obes. Targets Ther. 12, 413–421. https://doi.org/10.2147/dmso.s196738 (2019).
doi: 10.2147/dmso.s196738
Andersen, V. et al. No interaction between polymorphisms related to vitamin a metabolism and vitamin a intake in relation to colorectal cancer in a prospective Danish cohort. Nutrient. 11, 1428. https://doi.org/10.3390/nu11061428 (2019).
doi: 10.3390/nu11061428
Kato, I., Land, S., Majumdar, A. P., Barnholtz-Sloan, J. & Severson, R. K. Functional Polymorphisms to modulate luminal lipid exposure and risk of colorectal cancer. Cancer Epidemiol. 34, 291–297. https://doi.org/10.1016/j.canep.2010.02.010 (2010).
doi: 10.1016/j.canep.2010.02.010
pubmed: 20308031
pmcid: 2905870
Sharma, B. et al. Genetic analysis of colorectal carcinoma using high throughput single nucleotide polymorphism genotyping technique within the population of Jammu and Kashmir. Mol. Biol. Rep. 48, 5889–5895. https://doi.org/10.1007/s11033-021-06583-8 (2021).
doi: 10.1007/s11033-021-06583-8
pubmed: 34319543
Andersen, V., Halekoh, U., Tjønneland, A., Vogel, U. & Kopp, T. I. Intake of red and processed meat, use of non-steroid anti-inflammatory drugs, genetic variants and risk of colorectal cancer: A prospective study of the Danish “Diet, Cancer and Health” Cohort. Int. J. Mol. Sci. 20, 1121. https://doi.org/10.3390/ijms20051121 (2019).
doi: 10.3390/ijms20051121
pubmed: 30841568
pmcid: 6429260
Rivu, S. F. et al. Association of TP53 codon 72 and CDH1 genetic polymorphisms with colorectal cancer risk in Bangladeshi population. Cancer Epidemiol. 49, 46–52. https://doi.org/10.1016/j.canep.2017.05.005 (2017).
doi: 10.1016/j.canep.2017.05.005
pubmed: 28554075
Polakova, V. et al. Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic. Hum. Mutat. 30, 661–668. https://doi.org/10.1002/humu.20931 (2009).
doi: 10.1002/humu.20931
pubmed: 19224585
Momand, J. & Zambetti, G. P. Mdm-2: “Big Brother” of P53. J. Cell Biochem. 64, 343–352 (1997).
doi: 10.1002/(SICI)1097-4644(19970301)64:3<343::AID-JCB1>3.0.CO;2-V
pubmed: 9057092
Bougeard, G. Impact of the MDM2 SNP309 and P53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. J. Med. Genet. 43, 531–533. https://doi.org/10.1136/jmg.2005.037952 (2006).
doi: 10.1136/jmg.2005.037952
pubmed: 16258005
Talseth, B. A. et al. MDM2 SNP309 T>G alone or in combination with theTP53 r72p polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients. Int. J. Can. 120, 563–565. https://doi.org/10.1002/ijc.22339 (2006).
doi: 10.1002/ijc.22339
Alhopuro, P. The MDM2 promoter polymorphism SNP309T->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck. J. Med. Genet. 42, 694–698. https://doi.org/10.1136/jmg.2005.031260 (2005).
doi: 10.1136/jmg.2005.031260
pubmed: 16141004
pmcid: 1736129
Yueh, T. C. et al. Contribution of murine double minute 2 genotypes to colorectal cancer risk in Taiwan. Can. Genom. Proteom. 15, 405–411. https://doi.org/10.21873/cgp.20099 (2018).
doi: 10.21873/cgp.20099
Liu, J. N. et al. Genetic polymorphism in MDM2 is associated with susceptibility to colorectal cancer in a Chinese population. Zhonghua Zhong Liu Za Zhi. 30, 335–338 (2008).
pubmed: 18953830
Zhang, Y. et al. Polymorphisms in TP53 and MDM2 contribute to higher risk of colorectal cancer in Chinese population: A hospital-based, case–control study. Mol. Biol. Rep. 39, 9661–9668. https://doi.org/10.1007/s11033-012-1831-5 (2012).
doi: 10.1007/s11033-012-1831-5
pubmed: 22744426
Santarelli, R. L., Pierre, F. & Corpet, D. E. Processed meat and colorectal cancer: A review of epidemiologic and experimental evidence. Nutr. Cancer 60, 131–144. https://doi.org/10.1080/01635580701684872 (2008).
doi: 10.1080/01635580701684872
pubmed: 18444144
pmcid: 2661797