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

Padmalatha S. Rai, Ganesh C. Pai, Jose F. Alvares, Ravishankara Bellampalli, Puthiya M. Gopinath, Kapaettu Satyamoorthy

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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. Original submitted 21 January 2013; Revision submitted 3 January 201.

Original languageEnglish
Pages (from-to)349-359
Number of pages11
JournalPharmacogenomics
Volume15
Issue number3
DOIs
Publication statusPublished - 02-2014

Fingerprint

Colonic Neoplasms
Genes
Neoplasms
Genotype
Folic Acid Antagonists
Pharmacogenetics
DNA
Disease Susceptibility
DNA Sequence Analysis
Gene Frequency
Restriction Fragment Length Polymorphisms
Single Nucleotide Polymorphism
Carbon
Polymerase Chain Reaction
Control Groups
Therapeutics
Pharmaceutical Preparations

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Genetics
  • Pharmacology

Cite this

Rai, Padmalatha S. ; Pai, Ganesh C. ; Alvares, Jose F. ; Bellampalli, Ravishankara ; Gopinath, Puthiya M. ; Satyamoorthy, Kapaettu. / Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer. In: Pharmacogenomics. 2014 ; Vol. 15, No. 3. pp. 349-359.
@article{788dff5be5eb47558b0c98861a3298ba,
title = "Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer",
abstract = "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. Original submitted 21 January 2013; Revision submitted 3 January 201.",
author = "Rai, {Padmalatha S.} and Pai, {Ganesh C.} and Alvares, {Jose F.} and Ravishankara Bellampalli and Gopinath, {Puthiya M.} and Kapaettu Satyamoorthy",
year = "2014",
month = "2",
doi = "10.2217/pgs.14.4",
language = "English",
volume = "15",
pages = "349--359",
journal = "Pharmacogenomics",
issn = "1462-2416",
publisher = "Future Medicine Ltd.",
number = "3",

}

Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer. / Rai, Padmalatha S.; Pai, Ganesh C.; Alvares, Jose F.; Bellampalli, Ravishankara; Gopinath, Puthiya M.; Satyamoorthy, Kapaettu.

In: Pharmacogenomics, Vol. 15, No. 3, 02.2014, p. 349-359.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer

AU - Rai, Padmalatha S.

AU - Pai, Ganesh C.

AU - Alvares, Jose F.

AU - Bellampalli, Ravishankara

AU - Gopinath, Puthiya M.

AU - Satyamoorthy, Kapaettu

PY - 2014/2

Y1 - 2014/2

N2 - 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. Original submitted 21 January 2013; Revision submitted 3 January 201.

AB - 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. Original submitted 21 January 2013; Revision submitted 3 January 201.

UR - http://www.scopus.com/inward/record.url?scp=84894422455&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84894422455&partnerID=8YFLogxK

U2 - 10.2217/pgs.14.4

DO - 10.2217/pgs.14.4

M3 - Article

C2 - 24533714

AN - SCOPUS:84894422455

VL - 15

SP - 349

EP - 359

JO - Pharmacogenomics

JF - Pharmacogenomics

SN - 1462-2416

IS - 3

ER -