首页 > 过刊浏览>2019年第19卷第9期 >2019,19(9):1495-1498. DOI:10.3980/j.issn.1672-5123.2019.9.11
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单核苷酸多态性与高度近视发生发展的研究进展

Research progress of single nucleotide polymorphism and development of high myopia

发布日期：2019-08-23
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    [关键词]
    [摘要]

    目前，近视已成为一种全球性公共卫生疾病，其发生多是由遗传和环境等因素引起。单核苷酸多态性(SNPs)是指在基因组水平上发生的、由单个碱基的改变引起的脱氧核糖核酸(DNA)序列多态性。近年来有文献报道，相关基因位点上的SNPs的变化与近视的发生发展密切相关。本文就近视相关基因的SNPs与近视发生发展的关联研究现状作一综述，以期为近视病因和病理机制的研究提供新的思路。

    [Key word]
    [Abstract]
    At present, myopia has become a public health disease worldwide, and its occurrence is mostly caused by genetic and environmental factors. Single nucleotide polymorphisms(SNPs)are the changes in single base at the genomic level caused by DNA sequence polymorphisms. In recent years, it is reported that the change of SNPs in myopic related gene loci is closely related to the occurrence and development of myopia. The present paper reviewed the current status of the association between SNPs of myopia-related genes and the development of myopia, providing a new insight into the future research of pathogenesis of myopia.
    [基金项目]
    国家自然科学基金项目(No.81603421); 山东省重点研发计划(No.2019GSF108252,2017CXGC1211)
    1 Nakamura Y, Higa A, Sawaguchi S, et al. Refractive errors in an elderly rural Japanese population: The Kumejima study. PLoS One 2018; 13(11): e0207180
    2 Jonas JB, Xu L, Wei WB, et al. Myopia in China: a population-based cross-sectional, histological, and experimental study. Lancet 2016; 388(S1):S1-S99
    3 Wu JF, Bi HS, Wang SM, et al. Refractive error, visual acuity and causes of vision loss inchildren in Shandong, China. The Shandong Children Eye Study. PLoS One 2013; 8(12): e82763
    4 Kunceviciene E, Liutkeviciene R, Budiene B, et al. Independent association of whole blood miR-328 expression and polymorphism at 3'UTR of the PAX6 gene with myopia. Gene 2019; 687: 151-155
    5 Tang SM, Rong SS, Young AL, et al. PAX6 gene associated with high myopia: a meta-analysis. Optom Vis Sci 2014; 91(4): 419-429
    6 Miyake M, Yamashiro K, Nakanishi H, et al. Association of paired box 6 with high myopia in Japanese. Mol Vis 2012; 18: 2726-2735
    7 Jiang B, Yap MK, Leung KH, et al. PAX6 haplotypes are associated with high myopia in Han chinese. PLoS One 2011; 6(5):e19587
    8 Chen KC, Hsi E, Hu CY, et al. MicroRNA-328 may influence myopia development by mediating the PAX6 gene. Invest Ophthalmol Vis Sci 2012; 53(6): 2732-2739
    9 Okui S, Meguro A, Takeuchi M, et al. Analysis of the association between the LUM rs3759223 variant and high myopia in a Japanese population. Clin Ophthalmol 2016; 10(10): 2157-2163
    10 Wang GF, Ji QS, Qi B, et al. The association of lumican polymorphisms and high myopia in a Southern Chinese population. Int J Ophthalmol 2017; 10(10): 1516-1520
    11 Wang IJ, Chiang TH, Shih YF, et al. The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan. Mol Vis 2006; 12:852-857
    12 He M, Wang W, Ragoonundun D, et al. Meta-analysis of the association between lumican gene polymorphisms and susceptibility to high Myopia. PLoS One 2014; 9(6): e98748
    13 Feng YF, Zhang YL, Zha Y, et al. Association of Lumican gene polymorphism with high myopia: a meta-analysis. Optom Vis Sci 2013; 90(11): 1321-1326
    14 Guo L, Du X, Lu C, et al. Association between Insulin-Like Growth Factor 1 Gene rs12423791 or rs6214 Polymorphisms and High Myopia: A Meta-Analysis. PLoS One 2015; 10(6): e0129707
    15 Zhao JJ, Yang XQ, Li SS, et al. Association study of insulin-like growth factor-1 polymorphisms with extreme high myopia. Zhonghua Yan Ke Za Zhi 2013; 49(4): 334-339
    16 Mak JY, Yap MK, Fung WY, et al. Association of IGF1 gene haplotypes with high myopia in Chinese adults. Arch Ophthalmol 2012; 130(2): 209-216
    17 Liu X, Wang P, Qu C, et al. Genetic association study between INSULIN pathway related genes and high myopia in a Han Chinese population. Mol Biol Rep 2015; 42(1): 303-310
    18 Lin HJ, Wan L, Tsai Y, et al. The TGFβ1 gene codon 10 polymorphism contributes to the genetic predisposition to high myopia. Mol Vis 2006; 12: 698-703
    19 Rasool S, Ahmed I, Dar R, et al. Contribution of TGFβ1 codon 10 polymorphism to high myopia in an ethnic Kashmiri population from India. Biochem Genet 2013; 51(3-4): 323-333
    20 Yang X, Liu X, Peng J, et al. Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population. Genet Test Mol Biomarkers 2014; 18(6):446-452
    21 Liu HP, Lin YJ, Lin WY, et al. A novel genetic variant of BMP2K contributes to high myopia. J Clin Lab Anal 2009; 23(6): 362-367
    22 Chan NS, Teo K, Cheung CM. Epidemiology and diagnosis of myopic choroidal neovascularization in Asia. Eye Contact Lens 2016; 42(1): 48-55
    23 Leveziel N, Yu Y, Reynolds R, et al. Genetic factors for choroidal neovascularization associated with high myopia. Invest Ophthalmol Vis Sci 2012; 53(8): 5004-5009
    24 Goto S, Sayanagi K, Ikuno Y, et al. Comparison of visual prognoses between natural course of simple hemorrhage and choroidal neovascularization treated with intravitreal bevacizumab in highly myopic eyes: a 1-year follow-up. Retina 2015; 35(3): 429-434
    25 Akagi-Kurashige Y, Kumagai K, Yamashiro K, et al. Vascular endothelial growth factor gene polymorphisms and choroidal neovascularization in highly myopic eyes. Invest Ophthalmol Vis Sci 2012; 53(4): 2349-2353
    26 Tang SM, Ma L, Lu SY, et al. Association of the PAX6 gene with extreme myopia rather than lower grade myopias. Br J Ophthalmol 2018; 102(4): 570-574
    27 Kanemaki N, Meguro A, Yamane T, et al. Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population. Clin Ophthalmol 2015; 9: 2005-2011
    28 Wang P, Liu X, Ye Z, et al. Association of IGF1 and IGF1R gene polymorphisms with high myopia in a Han Chinese population. Ophthalmic Genet 2017; 38(2): 122-126
    29 Miyake M, Yamashiro K, Nakanishi H, et al. Evaluation of pigment epithelium-derived factor and complement factor I polymorphisms as a cause of choroidal neovascularization in highly myopic eyes. Invest Ophthalmol Vis Sci 2013; 54(6): 4208-4212
    30 Hsi E, Chen KC, Chang WS, et al. A functional polymorphism at the FGF10 gene is associated with extreme myopia. Invest Ophthalmol Vis Sci 2013; 54(5): 3265-3271
    31 Chen T, Shan G, Ma J, et al. Polymorphism in the RASGRF1 gene with high myopia: A meta-analysis. Mol Vis 2015; 21: 1272-1280
    32 Oishi M, Yamashiro K, Miyake M, et al. Association between ZIC2, RASGRF1, and SHISA6 genes and high myopia in Japanese subjects. Invest Ophthalmol Vis Sci 2013; 54(12): 7492-7497
    33 Yoshikawa M, Yamashiro K, Miyake M, et al. Comprehensive replication of the relationship between myopia-related genes and refractive errors in a large Japanese cohort. Invest Ophthalmol Vis Sci 2014; 55(11): 7343-7354
    34 Li F, Ye Z, Zhai Y, et al. Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population. Ophthalmic Genet 2017; 38(4): 330-334
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