Association of SOD2 Polymorphisms with Primary Open Angle Glaucoma in a Chinese Population. (March 2015)

• Record Type: Journal Article
• Authors: Zhou, Yu; Shuai, Ping; Li, Xiulan; Liu, Xiaoqi; Wang, Jin; Yang, Yin; Hao, Fang; Lin, He; Zhang, Dingding; Gong, Bo
• Is Part Of: Ophthalmic genetics. Volume 36:Number 1(2015:Mar.)
• Page Start: 43
• Page End: 49
• Publication Date: 2015-03
• Subjects: Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2014.985844
• Languages: English
• ISSNs: 1381-6810

Abstract

<abstract> <title>Abstract</title> <p> <italic>Background</italic>: 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 <italic>manganese superoxide dismutase</italic> (<italic>SOD2</italic>) variants play a significant role in POAG in a Chinese population.</p> <p> <italic>Methods</italic>: This study included of 416 unrelated POAG patients and 997 unrelated control subjects. Four <italic>SOD2</italic> 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 χ<sup>2</sup> tests.</p> <p> <italic>Results</italic>: Allelic association analysis showed that there were suggestive differences in the allelic distributions between POAG cases and controls for SNPs rs6917589 and rs5746136 (<italic>p</italic> = 0.0.046 and <italic>p</italic> = 0.032, respectively), but no statistically significant association was detected between the two SNPs and POAG after Bonferroni correction (<italic>p</italic> > 0.0125). The allele and genotype frequency in SNPs rs2842980 and rs4880 showed no statistically significant difference between POAG cases and controls (<italic>p</italic> = 0.128 and <italic>p</italic> = 0.867, respectively). SNP rs5746136 had a significant association with POAG in the recessive model (<italic>p</italic> = 0.003155). Haplotype ATGT generated from the four SNPs showed a trend of association with POAG (<italic>p</italic> = 0.0098).</p> <p> <italic>Conclusion</italic>: Our results showed a trend of association with POAG, suggesting that <italic>SOD2</italic> 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 <italic>SOD2</italic> gene in the pathogenesis of glaucoma.</p> </abstract>