Uracil-DNA glycosylase (UNG) rs246079 G/A polymorphism is associated with decreased risk of esophageal cancer in a Chinese population.

[esophageal squamous cell carcinoma]

Esophageal cancer is the sixth leading cause of cancer -associated death worldwide . In addition to environmental risk factors , genetic factors might play an important role in esophageal cancer carcinogenesis . We conducted a hospital-based case-control study to evaluate the association between functional single nucleotide polymorphisms (SNPs ) in uracil-DNA glycosylase (UNG ) and the development of esophageal cancer . A total of 380 esophageal squamous cell carcinoma (ESCC ) cases and 380 controls were recruited for this study . The UNG rs 3219218 A /G and UNG rs 246079 G /A genotypes were determined using matrix-assisted laser desorption /ionization time-of-flight mass spectrometry (MALDI-TOF MS ). When the UNG rs 246079 GG homozygote genotype was used as the reference group , the GA genotype was associated with a significantly decreased risk for ESCC (GA vs . GG : adjusted OR 0 .67 , 95 % CI 0 .49 -0 .91 , P = 0 .011 ); the AA genotype was not associated with the risk of ESCC . In stratification analyses , a significantly decreased risk of ESCC associated with the UNG rs 246079 G /A polymorphism was evident among women , younger patients and never-smokers and never-drinkers . The UNG rs 3219218 A /G polymorphism was not associated with the risk for ESCC . These findings indicated that UNG rs 246079 G /A might contribute to a decreased risk of ESCC in specific populations . Because of the limited sample size , further studies including a larger and more diverse population , as well as tissue-specific biological characterization , are required to confirm the current findings .