title: Genetic variations in MTHFR and esophageal squamous cell carcinoma susceptibility in Chinese Han population.
abstract: Esophageal cancer is the sixth most common cancer worldwide. Esophageal squamous cell carcinoma (ESCC) is a fatal malignancy associated with low 5-year survival rate. The aim of this study was to assess the association between methylenetetrahydrofolate reductase (MTHFR) tagging single nucleotide polymorphisms (SNPs) rs1801133 C>T, rs3753584 A>G, rs4845882 G>A, rs4846048 A>G and rs9651118 T>C genotypes and ESCC susceptibility in a hospital-based case-control study. We conducted genotyping analyses for these five SNPs with 629 ESCC cases and 686 controls in a Chinese Han population. Ligation detection reaction method was used to identify genotypes of these MTHFR SNPs. Our results demonstrated that MTHFR rs1801133 C>T was associated with the risk of ESCC; however, MTHFR rs4845882 G>A and rs4846048 A>G SNPs were associated with the decreased risk of ESCC, and MTHFR rs3753584 A>G and rs9651118 T>C SNPs were not associated with ESCC risk. Our findings suggests that MTHFR rs1801133 C>T, rs4845882 G>A and rs4846048 A>G SNPs may be genetic modifiers for developing ESCC in Chinese Han population.
authors.affiliation: Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang, 212000, China.
authors.forename: Weifeng
authors.initials: W
authors.lastname: Tang
authors.forename: Sheng
authors.initials: S
authors.lastname: Zhang
authors.forename: Hao
authors.initials: H
authors.lastname: Qiu
authors.forename: Lixin
authors.initials: L
authors.lastname: Wang
authors.forename: Bin
authors.initials: B
authors.lastname: Sun
authors.forename: Jun
authors.initials: J
authors.lastname: Yin
authors.forename: Haiyong
authors.initials: H
authors.lastname: Gu
mesh_terms: D044466:Asian People / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000097:blood / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D004247:DNA / Q000097:blood / Q000235:genetics; D004938:Esophageal Neoplasms / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors
chemical_list: D014408:Biomarkers, Tumor; D004247:DNA; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)