1. Relationship of single nucleotide polymorphisms and haplotype interaction of mitochondrial unfolded protein response pathway genes with head and neck cancer
- Author
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Mahmood Akhtar Kayani, Shazma Gul, Azhar Mehmood, Malik Waqar Ahmed, Anum Khursheed, and Ishrat Mahjabeen
- Subjects
Adult ,Male ,0301 basic medicine ,Cancer Research ,Adolescent ,Genotype ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,Risk Assessment ,DNA sequencing ,Metastasis ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Risk Factors ,Sirtuin 3 ,Mitochondrial unfolded protein response ,medicine ,Humans ,Genetic Predisposition to Disease ,Pakistan ,Child ,Gene ,Aged ,Neoplasm Staging ,Genetics ,Superoxide Dismutase ,business.industry ,Incidence ,Forkhead Box Protein O3 ,Haplotype ,Head and neck cancer ,General Medicine ,Middle Aged ,medicine.disease ,Healthy Volunteers ,Mitochondria ,030104 developmental biology ,Haplotypes ,Oncology ,Head and Neck Neoplasms ,Case-Control Studies ,030220 oncology & carcinogenesis ,Unfolded Protein Response ,Female ,business ,Signal Transduction - Abstract
Aim: In this study, we evaluated the effect of selected polymorphisms of mitochondrial unfolded protein response (UPRmt) pathway in 500 head and neck cancer (HNC) patients and 500 healthy controls from Pakistan. Materials & methods: The experiments were conducted using tetra-ARMS PCR followed by DNA sequencing. Results: Multivariate analysis showed that AA genotype of rs3782116 showed fivefold, GG genotype of rs6598072 approximately twofold and CC genotype of rs4946936 and TT genotype of rs12212067 showed twofold increased risk of HNC. Furthermore, haplotype analysis showed that certain haplotypes of UPRmt pathway single nucleotide polymorphisms have significant association with increased HNC risk. Conclusion: These results show that genetic aberrations in UPRmt pathway genes have association with increased HNC risk and can be an indicator of advance clinical outcome especially invasion and metastasis.
- Published
- 2019
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