Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer

Rai, Padmalatha S and Pai, Ganesh C and Alvares, Jose F and Bellampalli, Ravishankara and Gopinath, Puthiya M and Satyamoorthy, K (2014) Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer. Pharmacogenomics, 15 (3). pp. 349-359. ISSN 1462-2416

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Aim:MTHFR mediates the one carbon metabolism pathway. Two common genetic variants, C677T and A1298C, of MTHFR are associated with number of human diseases, including cancer, as well as being involved in the modulation of therapy outcome to antifolate drugs. To understand the distribution pattern of SNPs among different tissues of an individual, we examined MTHFR polymorphisms in normal and colon cancer tissues and compared the genotype frequencies in peripheral blood samples. Materials & methods: DNA was isolated from tumor tissue and matched normal tissues from 155 colon cancer patients. These samples as well as DNA from blood samples of the control group (n = 294) were analyzed for MTHFR polymorphisms by PCR-RFLP and confirmed by a direct DNA sequencing method. Results: Our data suggest that the allele and genotype frequencies of C677T and A1298C were significantly different between tumor tissues and both types of normal tissues. We have established that MTHFR variants that exist in tumor and matched normal tissues of colon cancer patients differ suggesting somatic variation in MTHFR polymorphisms among different tissues of an individual. The MTHFR A1298C polymorphism was associated with risk of colon cancer. Conclusion: Different MTHFR variants may exist in different tissues to maintain physiological functions and may have implications for disease susceptibility and pharmacogenomics based therapies.

Item Type: Article
Uncontrolled Keywords: Colon cancer; genotyping ; Indian population; MTHFR gene ; polymorphism; somatic variations.
Subjects: Medicine > KMC Manipal > Gastroenterology
Life Sciences > MLSC Manipal
Depositing User: KMC Manipal
Date Deposited: 25 Feb 2014 08:57
Last Modified: 25 Feb 2014 08:57

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