Common polymorphisms of thehOGG1, APE1andXRCC1genes correlate with the susceptibility and clinicopathological features of primary angle-closure glaucoma

Kun Zeng,Xiao-Li Shen,Bo Zhong,Li-Na Huang,Min Fang

doi:10.1042/bsr20160644

Kun Zeng, Xiao-Li Shen + Show 3 more

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https://doi.org/10.1042/bsr20160644

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Journal: Bioscience reports	Publication Date: May 17, 2017
Citations: 4	License type: CC BY 4.0

Affiliation: Shenzhen Second People's Hospital

Abstract

The present case study aims to elucidate the correlation between the human 8-hydroxyguanineglycosylase (hOGG1), APE1 and X-ray repair cross-complementing gene 1 (XRCC1) gene polymorphisms to the susceptibility and clinicopathological features of primary angle closure glaucoma (PACG) in a Chinese Han population. Blood samples were obtained from 258 PACG patients (case group) and 272 healthy volunteers (control group). PCR with sequence-specific primer (PCR-SSP) was used to determine the allele frequencies and genotype distributions of the hOGG1, APE1 and XRCC1 genes. The risk factors of PACG were determined using logistic regression analysis. The results indicated that hOGG1 Ser326Cys, APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms were correlated with the risk of PACG. Furthermore, there were thicker corneas, higher intraocular pressure (IOP) and a shorter axial length in patients carrying the mutant genotypes of hOGG1 Ser326Cys (Ser/Cys + Cys/Cys), APE1 Asp148Glu (Asp/Glu + Glu/Glu) and XRCC1 Arg399Gln (Arg/Gln + Glu/Glu) than those carrying the corresponding wild-type genotypes. According to the logistic regression analysis, Asp148Glu and Arg399Gln polymorphisms, a short axial length and high IOP are major risk factors for PACG. These findings reveal that hOGG1 Ser326Cys, APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms are correlated with the risk and clinicopathological features of PACG in a Chinese Han population.

Highlights

Glaucoma is characterized by a progressive degeneration of retinal ganglion cells (RGCs) and optic nerve axons
The present study aims to explore the potential association of human 8-hydroxyguanineglycosylase (hOGG1), X-ray repair cross-complementing gene 1 (XRCC1) and apurinic endonuclease 1 (APE1) gene polymorphisms with the susceptibility and clinicopathological features of primary angle closure glaucoma (PACG) in a Chinese Han population
PACG is a major type of glaucoma in many Southeast Asian countries [19] and many PACG patients have similar anatomic features such as a shallow anterior chamber, increased lens thickness, anterior position of the lens, narrow anterior chamber angles and a short axial length [20]

Summary

Introduction

Glaucoma is characterized by a progressive degeneration of retinal ganglion cells (RGCs) and optic nerve axons. It is estimated that 60 million people suffer from glaucomatous optic neuropathy and glaucoma is the cause of blindness in 8.4 million people [2]. Ethnicity, gender and age are identified as risk factors for primary angle closure glaucoma (PACG) [3]. PACG is a leading cause of irreversible blindness, visual ability can be maintained if early and proper treatment is adopted [4]. Gene polymorphism is an important factor in determining an individual’s disease susceptibility, phenotype and treatment response. Gene polymorphism is reported to be strongly correlated with glaucoma susceptibility [5,6]

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