XRCC1, but not APE1 and hOGG1 gene polymorphisms is a risk factor for pterygium

[摘要] Purpose: Epidemiological evidencesuggests that UV irradiation plays an important role in pterygiumpathogenesis. UV irradiation can produce a wide range of DNA damage.The base excision repair (BER) pathway is considered the most importantpathway involved in the repair of radiation-induced DNA damage. Basedon previous studies, single-nucleotide polymorphisms (SNPs) in8-oxoguanine glycosylase-1 (OGG1), X-ray repaircross-complementing-1 (XRCC1), and AP-endonuclease-1 (APE1)genesinthe BER pathway have been found to affect the individualsensitivity to radiation exposure and induction of DNA damage.Therefore, we hypothesize that the genetic polymorphisms of theserepair genes increase the risk of pterygium. Methods: XRCC1, APE1, and hOGG1polymorphisms were studied using fluorescence-labeled Taq Man probes on83 pterygial specimens and 206 normal controls. Results: There was a significantdifference between the case and control groups in the XRCC1genotype (p=0.038) but not in hOGG1 (p=0.383) and APE1(p=0.898). The odds ratio of the XRCC1 A/G polymorphism was2.592 (95% CI=1.225–5.484, p=0.013) and the G/G polymorphism was 1.212(95% CI=0.914–1.607), compared to the A/A wild-type genotype. Moreover,individuals who carried at least one C-allele (A/G and G/G) had a 1.710fold increased risk of developing pterygium compared to those whocarried the A/A wild type genotype (OR=1.710; 95% CI: 1.015–2.882,p=0.044). The hOGG1 and APE1 polymorphisms did not havean increased odds ratio compared with the wild type. Conclusions: XRCC1 (Arg399 Glu)is correlated with pterygium and might become a potential marker forthe prediction of pterygium susceptibility.

[学科分类] 生物化学/生物物理