Abstract

Methylenetetrahydrofolate reductase (MTHFR) plays a central role in folate metabolism. This study with 381 esophageal cancer patients and 432 healthy controls was conducted to examine the association of MTHFR C677T and A1298C polymorphisms with susceptibility to esophageal cancer (EC) in a Chinese population. Compared with the CC genotype of MTHFR C677T, subjects carrying homozygote TT and variant genotypes (CT+TT) demonstrated reduced risk of EC with adjusted ORs (95% CI) of 0.44 (0.28-0.71) and 0.57 (0.37-0.88), respectively. However, no association was found between the MTHFR A1298C polymorphism and the risk of EC. Comparing to haplotype CA, haplotypes TA and TC could reduce the susceptibility to EC with adjusted ORs (95% CI) of 0.61(0.47-0.79) and 0.06 (0.01-0.43), respectively. In conclusion, the present study suggested that the MTHFR C677T polymorphism can markedly influence the risk of EC in Chinese.

Highlights

  • Esophageal cancer (EC) is a global health problem, and an estimated 482,300 new esophageal cancer cases and 406,800 deaths occurred in 2008 worldwide (Jemal et al, 2011)

  • There have been several studies showing that the Methylenetetrahydrofolate reductase (MTHFR) 677T allele could increase the esophageal cancer risk (Song et al, 2001; Zhang et al, 2004; Wang, 2005; Wang, 2007), while no risk change has been observed among the other studies (Wu et al, 2002; Wu et al, 2002; Stolzenberg-Solomon et al, 2003)

  • The present study was the first report suggesting the MTHFR 677T allele could decrease the risk of EC, which was consistent with the result of Nelofar Kureshi et al (Kureshi et al, 2004; Kureshi et al, 2004), who have shown that C allele was associated with susceptibility to head and neck cancer, their results did not reach statistical significance

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Summary

Introduction

Esophageal cancer (EC) is a global health problem, and an estimated 482,300 new esophageal cancer cases and 406,800 deaths occurred in 2008 worldwide (Jemal et al, 2011). Folate deficiency caused by low consumption of vegetables and fruits increase the risk of several cancers, including esophageal cancer (Jaskiewicz et al, 1988; Prasad et al, 1992; Giovannucci et al, 1995; Tseng et al, 1996). Functional polymorphisms in folate-metabolizing genes may influence susceptibility to cancer. There are some researches concerning of the polymorphisms of MTHFR and the risk of esophageal cancer. The present study was carried out to further investigate the association of MTHFR C677T and A1298C polymorphisms with esophageal cancer susceptibility in Henan Province, the highest incidence area of EC in China

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