Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China

Lung Cancer. 2005 Sep;49(3):299-309. doi: 10.1016/j.lungcan.2005.04.002.


The aim of this study is to investigate the role of genetic polymorphisms in twelve folate metabolism genes on the risk of lung cancer in Xuan Wei, China, where the lung cancer mortality rate is among the highest and is mainly caused by indoor smoky coal emissions. A total of 122 incident primary lung cancer cases and 122 matched controls were enrolled. Three single nucleotide polymorphisms were associated with increased risk of lung cancer including homozygotes of the C allele of CBS Ala360Ala (OR: 4.02; 95% CI: 1.64-9.87), the 222Val allele of MTHFR (OR: 2.32; 95% CI: 1.34-4.03), and the C allele of SLC19A1 Pro232Pro (OR: 1.83; 95% CI: 1.02-3.28). The distribution of CBS and MTHFR haplotypes differed between cases and controls (P=0.002 and P=0.07, respectively). In summary, three genetic variants in folate metabolism genes are associated with an increased risk of lung cancer in Xuan Wei, China.

MeSH terms

  • Adult
  • Aged
  • Alleles
  • China
  • Cystathionine beta-Synthase / genetics*
  • Female
  • Folic Acid / chemistry*
  • Gene Expression Regulation, Neoplastic
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Haplotypes
  • Homozygote
  • Humans
  • Lung Neoplasms / diagnosis*
  • Lung Neoplasms / genetics*
  • Male
  • Membrane Transport Proteins / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • Reduced Folate Carrier Protein
  • Risk
  • Smoking


  • Membrane Transport Proteins
  • Reduced Folate Carrier Protein
  • SLC19A1 protein, human
  • Folic Acid
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Cystathionine beta-Synthase