title: Evaluation of MTHFR677C>T polymorphism in prediction and prognosis of esophageal squamous cell carcinoma: a case-control study in a northern Indian population.
abstract: Early diagnosis and better prognosis of esophageal squamous cell carcinoma (ESCC) is still a challenge. Besides environmental risk factors, nutritional deficiencies have an established role in pathogenesis of ESCC. Folate deficiency and functional polymorphisms in folate metabolizing genes such as methylene tetrahydrofolate reductase (MTHFR) 677C>T may have oncogenic role through disruption of normal DNA methylation pattern, synthesis, and impaired DNA repair. MTHFR677C>T or A222V (rs1801133) polymorphism has conflicting role in susceptibility to ESCC among different populations. Thus, we aimed to study the role of MTHFR677C>T polymorphism in susceptibility, survival, and interaction with environmental risk factors in ESCC patients from a northern Indian population. A case control study was performed in 208 ESCC incident cases (including 114 follow-up cases) and 223 healthy controls, and genotyping was done by PCR-RFLP. Our results show no significant association of MTHFR677C>T polymorphism with ESCC, tumor locations, or gender of subjects. However, we found a trend of decreased risk of ESCC due to interaction of MTHFR677CT genotype with smoking and alcohol intake. Kaplan Meier, and Cox regression survival analysis showed no prognostic impact of MTHFR677C>T polymorphism in ESCC patients. In conclusion, MTHFR677C>T polymorphism does not seem to have significant role either in susceptibility or survival of ESCC in a northern Indian population.
authors.affiliation: Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Raebareilly Road, Lucknow, India.
authors.forename: Meenakshi
authors.initials: M
authors.lastname: Umar
authors.forename: Rohit
authors.initials: R
authors.lastname: Upadhyay
authors.forename: Rohini
authors.initials: R
authors.lastname: Khurana
authors.forename: Shaleen
authors.initials: S
authors.lastname: Kumar
authors.forename: Uday Chand
authors.initials: UC
authors.lastname: Ghoshal
authors.forename: Balraj
authors.initials: B
authors.lastname: Mittal
mesh_terms: D000328:Adult; D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000401:mortality; D016022:Case-Control Studies; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000401:mortality; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011379:Prognosis
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)