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Cancer Causes Control. 2007 Mar;18(2):143-52. Epub 2007 Jan 6.

Association of MTHFR C677T and SHMT(1) C1420T with susceptibility to ESCC and GCA in a high incident region of Northern China.

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  • 1Hebei Cancer Institute, Hebei Medical University, Jiankanglu 12, Shijiazhuang, 050011, Hebei Province, China.



To assess the association between the C to T transition in the methylenetetrahydro folate reductase gene (MTHFR C677T) and the C to T transition in the serine hydroxymethyltransferase ( 1 )gene (SHMT ( 1 ) C1420T) and the increased risk of carcinogenesis of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) in a population of high incident region of Northern China.


The polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism and PCR-confronting two-pair primers analysis respectively among 1051 cancer patients (584 ESCC and 467 GCA) and 540 healthy controls.


The MTHFR 677T/T genotype significantly increased susceptibility to both ESCC and GCA compared with the C/C genotype, the adjusted OR was 2.13 (95% CI = 1.50-3.02) and 1.28 (95% CI = 1.07-1.53, respectively. For the SHMT ( 1 ) C1420T polymorphism, the C/C genotype was significantly associated with the increased risk of ESCC and GCA, compared with the C/T genotype (the adjusted OR = 1.43 and 1.35, 95% CI = 1.02-2.00 and 1.11-1.63, respectively). The interactive influence of the MTHFR and SHMT ( 1 ) polymorphisms in the risk of ESCC and GCA was also observed.


The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated.

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