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Research Report

Association of SOD2 Polymorphisms with Primary Open Angle Glaucoma in a Chinese Population

Yu ZhouSichuan Key Laboratory for Disease Gene Study, ;Institute of Laboratory Medicine, and ;School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

Ping ShuaiSichuan Key Laboratory for Disease Gene Study, ;Institute of Laboratory Medicine, and ;School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

Xiulan LiSichuan Key Laboratory for Disease Gene Study,

Xiaoqi LiuSichuan Key Laboratory for Disease Gene Study, ;Institute of Laboratory Medicine, and ;School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

Jin WangInstitute of Laboratory Medicine, and ;School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

Yin YangDepartment of Ophthalmology, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu, Sichuan, China, and ;School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

Fang HaoSichuan Key Laboratory for Disease Gene Study, ;Institute of Laboratory Medicine, and

He LinSichuan Key Laboratory for Disease Gene Study, ;Institute of Laboratory Medicine, and ;School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

Dingding ZhangSichuan Key Laboratory for Disease Gene Study, ;Institute of Laboratory Medicine, and ;School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

Bo GongSichuan Key Laboratory for Disease Gene Study, ;Institute of Laboratory Medicine, and ;School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, ChinaCorrespondence[email protected]

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Abstract

Background: Genetic factors have been studied extensively for their role in the pathogenesis of primary open angle glaucoma (POAG). This study was conducted to investigate whether manganese superoxide dismutase (SOD2) variants play a significant role in POAG in a Chinese population.

Methods: This study included of 416 unrelated POAG patients and 997 unrelated control subjects. Four SOD2 tag single nucleotide polymorphisms (SNPs), including rs6917589 rs2842980, rs5746136 and rs4880, were genotyped by dye terminator-based SNaPshot method. The genotype and allele frequencies were evaluated using the χ² tests.

Results: Allelic association analysis showed that there were suggestive differences in the allelic distributions between POAG cases and controls for SNPs rs6917589 and rs5746136 (p = 0.0.046 and p = 0.032, respectively), but no statistically significant association was detected between the two SNPs and POAG after Bonferroni correction (p > 0.0125). The allele and genotype frequency in SNPs rs2842980 and rs4880 showed no statistically significant difference between POAG cases and controls (p = 0.128 and p = 0.867, respectively). SNP rs5746136 had a significant association with POAG in the recessive model (p = 0.003155). Haplotype ATGT generated from the four SNPs showed a trend of association with POAG (p = 0.0098).

Conclusion: Our results showed a trend of association with POAG, suggesting that SOD2 may play a significant role in the development of POAG in the Chinese population. Further work with a larger sample size and functional study is needed to confirm the importance of the SOD2 gene in the pathogenesis of glaucoma.

Keywords

AcknowledgmentS

We thank all the participants in this study.

DECLARATION OF INTEREST

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

This study was supported by grants from the Natural Science Foundation of China [81371048 (B.G.)], [81271047 (XQ.L)], and [81470667 (DD.Z.)]; and from the Department of Sichuan Provincial Health [130167 (B.G.)].

Supplementary Material Available Online

Supplementary Tables 1 and 2

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Association of SOD2 Polymorphisms with Primary Open Angle Glaucoma in a Chinese Population

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Association of SOD2 Polymorphisms with Primary Open Angle Glaucoma in a Chinese Population

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AcknowledgmentS

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