Pterygium and genetic polymorphism of DNA double strand break repair gene Ku70

Yi Yu Tsai, Da Tian Bau, Chun Chi Chiang, Ya Wen Cheng, Sung Huei Tseng, Fuu Jen Tsai

Research output: Contribution to journalArticlepeer-review

34 Citations (Scopus)


Purpose: UV irradiation can produce a wide range of DNA damage, which will lead to gene mutation and uncontrolled cell proliferarion. Of the many types of DNA damage, DNA double strand breaks (DSBs) are the most serious form, because of the intrinsic difficulty of their repair, inaccurate repair, or a lack of repair of DSBs can lead to mutations and large-scale genomic instability. DSBs are repaired by the DNA double strand break repair system. The DNA double strand break repair system consists of homologous recombination (HR) and nonhornologous end-joining (NHEJ). In humans, NHEJ is the predominant repair system and Ku7O protein plays an initial and important role in the NHEJ system. Genetic polymorphisms, in NHEJ genes influence their DNA repair capacity and confer predisposition to UV-induced skin cancer. Because pterygium is an UV-related uncontrolled cell proliferation, it is logical to assume polymorphisms of Ku70 is associated with genetic predisposition to pterygium. Methods: One hundred and twenty eight pterygium patients and 114 volunteers without pterygium were enrolled in this study. Polymerase chain reaction based analysis was used to resolve the Ku70 promoter G-57C (rs2267437) and T-991C (rs5751129) polymorphisms. Results: There were significant differences between pterygium and control groups in the distribution of genotype (P=0.013) and allelic frequency (p=0.005) in theKu7O promoter T-991C polymorphism. Individuals who carried at least one C allele (T/C and CIC) had a 2.83 fold increased risk of developing pterygium compared to those who carried the T/T wild type genotype (OR=2.83; 95% CI: 1.38-5.82). Moreover, individuals who carried at least one C allele (T/C and C/C) had a higher tendency to develop both sides of pterygium. In the Ku70 promoter C-57G polymorphism, there was no difference between both groups in the distribution of either genotype or allelic frequency. Conclusions: The Ku70 promoter T-991C, but not the Ku70 promoter C-57G polyrnorphism, is correlated with pterygium. The Ku70 promoter T-991C polymorphism might become a potential marker for the prediction of pterygium. susceptibility. It also provides a valuable insight into the pathogenesis of pterygium.

Original languageEnglish
Pages (from-to)1436-1440
Number of pages5
JournalMolecular Vision
Publication statusPublished - Aug 15 2007
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology


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