title: Polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) are associated with susceptibility to adult acute myeloid leukemia in a Chinese population.
abstract: BACKGROUND
  Methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in the metabolism of folate. Since acute myeloid leukemia (AML) is characterized by rapidly proliferating tissues that have a high requirement for DNA synthesis, it is possible that the presence of MTHFR polymorphisms could be linked to the multifactorial process of AML development.
  
  
  METHODS
  We evaluated the role of MTHFR C677T and A1298C polymorphisms in a case-control study comprising 98 AML patients and 2016 healthy controls in a Southern Chinese population. We further conducted a sub-study restricted to individuals who neither smoked nor drank alcohol (70 AML patients and 160 healthy controls). MTHFR polymorphisms in the patient and control groups were evaluated by SNaP shot genotype techniques and Illumina BeadChip, respectively. Logistic regression was used to assess the adjusted odds ratios (ORs) and 95% confidence intervals (95% CIs).
  
  
  RESULTS
  The MTHFR 1298AC genotype and the 677CC/1298AC haplotype were significantly associated with a decreased risk of AML compared with the AA genotype and 677CC/1298AA haplotype (OR=0.60, 95% CI: 0.38-0.95, P=0.03; OR=0.49, 95% CI: 0.27-0.90, P=0.02, respectively). In addition, the 677TT genotype was significantly associated with an increased risk of AML compared with the AA genotype only in non-smokers and non-drinkers (OR=4.78; 95% CI=1.38-16.61, P=0.01).
  
  
  CONCLUSIONS
  The results might suggest that MTHFR polymorphisms are significantly associated with AML risk. In addition, the role of MTHFR genetic susceptibility could be greater among non-smokers and non-drinkers.
authors.affiliation: Hematology Department, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Lulu
authors.initials: L
authors.lastname: Huang
authors.affiliation: Hematology Department, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Donghong
authors.initials: D
authors.lastname: Deng
authors.affiliation: Hematology Department, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Zhigang
authors.initials: Z
authors.lastname: Peng
authors.affiliation: Hematology Department, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Fanghui
authors.initials: F
authors.lastname: Ye
authors.affiliation: Hematology Department, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China; Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Xiao
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Zhang
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Bingbing
authors.initials: B
authors.lastname: Ye
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, China; Institute of Urology and Nephrology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Zengnan
authors.initials: Z
authors.lastname: Mo
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, China; Department of Occupational Health and Environmental Health, School of Public Health, Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Xiaobo
authors.initials: X
authors.lastname: Yang
authors.affiliation: Hematology Department, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: liuliuzhenfang@126.com.
authors.forename: Zhenfang
authors.initials: Z
authors.lastname: Liu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016017:Odds Ratio; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: AML; MTHFR; Polymorphism; Risk