Abstract:
:Gallbladder carcinoma (GBC) is a leading cause of cancer deaths in north India. Evidence has highlighted the role of abnormal DNA methylation patterns on inappropriate gene expression in development and progression of various cancers. 5,10-Methylenetetrahydrofolate reductase (MTHFR) plays a major role in provision of methyl groups for DNA methylation. A C/T substitution in MTHFR at nucleotide 677 results in replacement of ala222-to-val in the N-terminal catalytic domain of protein, and causes considerable decrease in enzymatic activity. Thus, MTHFR C677T polymorphism may influence genetic susceptibility to GBC. The present study aimed to examine the role of C677T MTHFR polymorphism in conferring genetic susceptibility to GBC. The present study included 146 proven GBC patients and 210 healthy controls. Genotyping was done by PCR-RFLP method. The MTHFR C677T genotypes in control population were in Hardy-Weinberg equilibrium (p = ns). No statistically significant difference was observed in frequency of variant TT genotype in GBC patients in comparison to healthy controls (4.1% and 2.9%). Stratification of GBC patients on the basis of presence or absence of gallstones showed no significant association with the disease. Further, gender and age of onset of the disease did not show any significant association. In conclusion, the present study indicates that the genetic risk for GBC is not modulated by MTHFR C677T polymorphism.
journal_name
DNA Cell Bioljournal_title
DNA and cell biologyauthors
Srivastava A,Pandey SN,Pandey P,Choudhuri G,Mittal Bdoi
10.1089/dna.2007.0679subject
Has Abstractpub_date
2008-03-01 00:00:00pages
127-32issue
3eissn
1044-5498issn
1557-7430journal_volume
27pub_type
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