title: Common polymorphisms of thehOGG1, APE1andXRCC1genes correlate with the susceptibility and clinicopathological features of primary angle-closure glaucoma.
abstract: The present case study aims to elucidate the correlation between the human 8-hydroxyguanineglycosylase (hOGG1),APE1and 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 thehOGG1, APE1andXRCC1genes. The risk factors of PACG were determined using logistic regression analysis. The results indicated thathOGG1Ser326Cys,APE1Asp148Glu andXRCC1Arg399Gln 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 ofhOGG1Ser326Cys (Ser/Cys + Cys/Cys),APE1Asp148Glu (Asp/Glu + Glu/Glu) and XRCC1Arg399Gln (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 thathOGG1Ser326Cys,APE1Asp148Glu andXRCC1Arg399Gln polymorphisms are correlated with the risk and clinicopathological features of PACG in a Chinese Han population.
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen 518000, P.R. China kunzeng_ab@163.com.
authors.forename: Kun
authors.initials: K
authors.lastname: Zeng
authors.affiliation: Department of Stomatology, Shenzhen Second People's Hospital, Shenzhen 518035, P.R. China.
authors.forename: Bo
authors.initials: B
authors.lastname: Zhong
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen 518000, P.R. China.
authors.forename: Min
authors.initials: M
authors.lastname: Fang
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen 518000, P.R. China.
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Shen
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen 518000, P.R. China.
authors.forename: Li-Na
authors.initials: LN
authors.lastname: Huang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D045647:DNA Glycosylases / Q000235:genetics*; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D015812:Glaucoma, Angle-Closure / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D000076105:X-ray Repair Cross Complementing Protein 1 / Q000235:genetics*
chemical_list: D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human; D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human; C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase
keywords: APE1; Clinicopathological features; Polymorphism; Primary angle-closure glaucoma; Susceptibility; XRCC1; hOGG1