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. 2017 May 17;37(3):BSR20160644.
doi: 10.1042/BSR20160644. Print 2017 Jun 30.

Common polymorphisms of the hOGG1, APE1 and XRCC1 genes correlate with the susceptibility and clinicopathological features of primary angle-closure glaucoma

Kun Zeng  1 , Bo Zhong  2 , Min Fang  3 , Xiao-Li Shen  3 , Li-Na Huang  3
Affiliations

Common polymorphisms of the hOGG1, APE1 and XRCC1 genes correlate with the susceptibility and clinicopathological features of primary angle-closure glaucoma

Kun Zeng et al. Biosci Rep. .

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.

Keywords: APE1; Clinicopathological features; Polymorphism; Primary angle-closure glaucoma; Susceptibility; XRCC1; hOGG1.

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Conflict of interest statement

The authors declare that there are no competing interests associated with the manuscript.

Figures

Figure 1
Figure 1. Agarose gel electrophoresis and PCR products of hOGG1 Ser326Cys (Ser/Cys).SNP Ser326 of hOGG1 gene exhibited fragment 446 bp after amplification, which caused three different fragments (194, 252 and 446 bp).
The homozygous wild-type (Ser/Ser) was 252 and 446 bp, the homozygous mutation (Cys/Cys) was 194 and 446 bp and heterozygote (Ser/Cys) was 194, 252 and 446 bp.
Figure 2
Figure 2. Agarose gel electrophoresis and PCR products of APE1 Asp148Glu (Asp/Glu). SNP 148 of APE1 gene exhibited fragment 403 bp after amplification, which caused three different fragments (167, 236 and 403 bp).
The homozygous wild-type (Asp/Asp) was 236 and 403 bp, the homozygous mutation (Glu/Glu) was 194 and 446 bp and heterozygote (Asp/Glu) was 167, 236 and 403 bp.
Figure 3
Figure 3. Agarose gel electrophoresis and PCR products of XRCC1 Arg399Gln (Arg/Gln).
SNP 399 of XRCC1 gene exhibited fragment 447 bp after amplification, which caused three different fragments (447, 222 and 669 bp). The homozygous wild-type (Arg/Arg) was 447 and 669 bp, the homozygous mutation (Gln/Gln) was 463 and 669 bp and heterozygote (Arg/Gln) was 222, 447 and 669 bp.
Figure 4
Figure 4. Linkage analyses of the polymorphic loci of the case group and the control group.
See this image and copyright information in PMC

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References

    1. Yasumura R., Meguro A., Ota M., Nomura E., Uemoto R., Kashiwagi K. et al. (2011) Investigation of the association between SLC1A3 gene polymorphisms and normal tension glaucoma. Mol. Vis. 17, 792–796 - PMC - PubMed
    1. Cook C. and Foster P. (2012) Epidemiology of glaucoma: what’s new? Can. J. Ophthalmol. 47, 223–226 - PubMed
    1. van Romunde S.H., Thepass G. and Lemij H.G. (2013) Is hyperopia an important risk factor for pacg in the dutch population?-A case control study J. Ophthalmol. 2013, 630481. - PMC - PubMed
    1. Chen M.S., Chang C.C., Lin C.P., Wang P.C., Lin L.R., Hou P.K. et al. (2012) Role of vascular endothelial growth factor in the breakdown of the blood-aqueous barrier after retinal laser photocoagulation in pigmented rabbits. J. Ocul. Pharmacol. Ther. 28, 83–88 - PMC - PubMed
    1. Costa N.B., Silva C.T., Frare A.B., Silva R.E. and Moura K.K. (2014) Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma. Genet. Mol. Res. 13, 10382–10389 - PubMed

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