GENETIC POLYMORHISM OF CASPASE 8 AND 9 IN IRAQ
DOI:
https://doi.org/10.36103/ijas.v53i3.1558Keywords:
Acute myeloid leukemia, Chronic myeloid leukemia, Apoptosis, Odd ratioAbstract
This study examined the potential association between polymorphisms of Caspase 9 −293del (rs4645982) and Caspase8−652 6N ins / del (rs3834129) and the danger of acute and chronic myeloid leukaemia in Iraqi population. This case-control study was conducted as 128 (62 acute, and 66 chronic) myeloid leukaemia patient and 65 healthy individuals not infected with cancer. A conventional PCR method was used for detection in this study. The results showed that the Caspase9 −293del (rs4645982) in homozygous and heterozygous deletion genotypes were associated significantly with CML risk ( p= 0.001 and 0.005 ,respectively ) and in homozygous insertion and deletion genotypes of Caspase 8 -652 6N were also associated significantly with CML risk (p= 0.004 and p= 0.00, respectively), while there were non significant association between Caspase9 −293del (rs4645982) and Caspase8 −652 6N (rs3834129) with AML risk in all genotypes of them p > 0.05. These findings suggest that polymorphisms in the Caspase-9 and Caspase-8 genes might be useful markers for determining genetic susceptibility to CML and AML. The results of this study suggest that Caspase9-293 is associated with increased risk of CML in case of homozygous of deletion, and insertion in case of AML, while in Caspase8-652 6N insertion polymorphism are associated with increased risk of both CML and AML in a sample of Iraqi populations.
References
Budihardjo, I., H., Oliver, M., Lutter, X., Luo, and X. Wang, 1999. Biochemical pathways of caspase activation during apoptosis. Annual Review of Cell and Developmental Biology, 15(1), 269–290
Catucci, I., P., Verderio, S., Pizzamiglio, S., Manoukian, B., Peissel, D., Zaffaroni, G., Roversi, C. B., Ripamonti, B.,Pasini, and M. Barile, 2011. The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. Breast Cancer Research and Treatment, 125(3), 855–860
Chatterjee, K., A., Williamson, M., Hoffman, and C. Dandara, 2011. CASP8 promoter polymorphism is associated with high‐risk HPV types and abnormal cytology but not with cervical cancer. Journal of Medical Virology, 83(4), 630–636
Cingeetham, A., S., Vuree, N. R., Dunna, M., Gorre, S. R., Nanchari, P. M., Edathara, P., Mekkaw, S., Annamaneni, R. R., Digumarthi, and S. Sinha, 2014. Association of caspase9 promoter polymorphisms with the susceptibility of AML in south Indian subjects. Tumor Biology, 35(9), 8813–8822
Degterev, A., Boyce, M., & Yuan, J. (2003). A decade of caspases. Oncogene, 22(53), 8543–8567
Edathara, P. M., rs3834129 M., Gorre, S., Kagita, A., Cingeetham, S., Annamaneni, R., Digumarti, and V. Satti, 2019. Influence of Caspase-9 polymorphisms on the development of Chronic Myeloid Leukemia-A case-control study. Gene: X, 1, 100002
Edwards, A. W. F. 2008. GH Hardy 1908 and Hardy–Weinberg Equilibrium. Genetics, 179(3), 1143–1150
Fuentes-Prior, P., and G. S. Salvesen, 2004. The protein structures that shape caspase activity, specificity, activation and inhibition. Biochemical Journal, 384(2), 201–232
George, G. P., R. K.,Mandal, P., Kesarwani, S. N., Sankhwar, A., Mandhani, and R. D. Mittal, 2012. Polymorphisms and haplotypes in caspases 8 and 9 genes and risk for prostate cancer: a case-control study in cohort of North India. Urologic Oncology: Seminars and Original Investigations, 30(6), 781–789
Hashemi, M., H., Hoseini, P., Yaghmaei, A., Moazeni-Roodi, A., Bahari, N., Hashemzehi, and S. Shafieipour, 2011. Association of polymorphisms in glutamate-cysteine ligase catalytic subunit and microsomal triglyceride transfer protein genes with nonalcoholic fatty liver disease. DNA and Cell Biology, 30(8), 569–575
Hashemi, M., A., Moazeni-roodi, A., Bahari, and M. Taheri, 2012. A tetra-primer amplification refractory mutation system–polymerase chain reaction for the detection of rs8099917 IL28B genotype. Nucleosides, Nucleotides and Nucleic Acids, 31(1), 55–60.
Ho, T., Q., Wei, and E. M. Sturgis, 2007. Epidemiology of carcinogen metabolism genes and risk of squamous cell carcinoma of the head and neck. Head & Neck: Journal for the Sciences and Specialties of the Head and Neck, 29(7), 682–699
Li, C., J., Lu, Z., Liu, L.-E.,Wang, H., Zhao, A. K., El-Naggar, E. M., Sturgis, and Q. Wei, 2010. The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck. Cancer Prevention Research, 3(2), 246–253
Liamarkopoulos, E., M., Gazouli, G., Aravantinos, N., Tzanakis, G., Theodoropoulos, S., Rizos, and N. Nikiteas, 2011. Caspase 8 and caspase 9 gene polymorphisms and susceptibility to gastric cancer. Gastric Cancer, 14(4), 317–321
Lou, X.-Y., G.-B., Chen, L., Yan, J. Z., Ma, J., Zhu, R. C., Elston, and M. D. Li, 2007. A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence. The American Journal of Human Genetics, 80(6), 1125–1137
Lowe, S. W., and A. W. Lin, 2000. Apoptosis in cancer Carcinogenesis 21 (3): 485–495. Find This Article Online
Ma, X., J., Zhang, S., Liu, Y., Huang, B., Chen, and D. Wang, 2011. Polymorphisms in the CASP8 gene and the risk of epithelial ovarian cancer. Gynecologic Oncology, 122(3), 554–559
Manoukian, S., M., Barile, S., Fortuzzi, F., Ravagnani, M. A., Pierotti, P., Radice, and P. Peterlongo, 2009. Evidences for association of the CASP8-652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases. Breast Cancer Res Treat, 113, 607–608
Moore, J. H., J. C., Gilbert, C.-T., Tsai, F.-T., Chiang, T., Holden, N., Barney, and B. C. White, 2006. A flexible computational framework for detecting, characterizing, and interpreting statistical patterns of epistasis in genetic studies of human disease susceptibility. Journal of Theoretical Biology, 241(2), 252–261
Nicholson, D. W., and N. A. Thornberry, 1997. Caspases: killer proteases. Trends in Biochemical Sciences, 22(8), 299–306
Park, J. Y., J. M., Park, J. S., Jang, J. E., Choi, K. M., Kim, S. I., Cha, C. H., Kim, Y. M., Kang, W. K. Lee, , and S. Kam, 2006. Caspase 9 promoter polymorphisms and risk of primary lung cancer. Human Molecular Genetics, 15(12), 1963–1971
Ritchie, M. D., L. W., Hahn, N., Roodi, L. R., Bailey, W. D., Dupont, F. F., Parl, and J. H. Moore, 2001. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. The American Journal of Human Genetics, 69(1), 138–147
Ritchie, M. D., and A. A. Motsinger, 2005. Multifactor dimensionality reduction for detecting gene–gene and gene–environment interactions in pharmacogenomics studies
Soung, Y. H., J. W., Lee, S. Y., Kim, W. S., Park, S. W., Nam, J. Y., Lee, N. J., Yoo, and S. H. Lee, 2006. Mutational analysis of proapoptotic caspase‐9 gene in common human carcinomas. Apmis, 114(4), 292–297
Sun, T., Y., Gao, W., Tan, S., Ma, Y., Shi, J., Yao, Y., Guo, M., Yang, X., Zhang, and Q. Zhang, 2007. A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers. Nature Genetics, 39(5), 605–613
Theodoropoulos, G. E., M., Gazouli, A., Vaiopoulou, M., Leandrou, S., Nikouli, E., Vassou, G., Kouraklis, and N. Nikiteas, 2011. Polymorphisms of caspase 8 and caspase 9 gene and colorectal cancer susceptibility and prognosis. International Journal of Colorectal Disease, 26(9), 1113–1118
Umar, M., R., Upadhyay, S., Kumar, U. C., Ghoshal, and B. Mittal, 2011. CASP8− 652 6N del and CASP8 IVS12‐19G> A gene polymorphisms and susceptibility/prognosis of ESCC: A case control study in northern Indian population. Journal of Surgical Oncology, 103(7), 716–723
Wang, Y.-X., L., Zhao, X.-Y., Wang, C.-M., Liu, and S.-G. Yu, 2012. Role of Caspase 8, Caspase 9 and Bcl-2 polymorphisms in papillary thyroid carcinoma risk in Han Chinese population. Medical Oncology, 29(4), 2445–2451
Yang, M., T., Sun, L., Wang, D., Yu, X., Zhang, X., Miao, J., Liu, D., Zhao, H., Li, and W. Tan, 2008. Functional variants in cell death pathway genes and risk of pancreatic cancer. Clinical Cancer Research, 14(10), 3230–3236
Yin, M., J., Yan, S., Wei, and Q. Wei, 2010. CASP8 polymorphisms contribute to cancer susceptibility: evidence from a meta-analysis of 23 publications with 55 individual studies. Carcinogenesis, 31(5), 850–857.
Downloads
Published
Issue
Section
License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.