[1]苏舒,朱蓉嵘,胡楠,等.DNA修复基因的多态性以及DNA损伤与年龄相关性白内障的关系[J].眼科新进展,2017,37(11):1040-1043.[doi:10.13389/j.cnki.rao.2017.0263]
　SU Shu,ZHU Rong-Rong,HU Nan,et al.Single nucleotide polymorphisms in DNA repair genes and the association of DNA damage with age-related cataract[J].Recent Advances in Ophthalmology,2017,37(11):1040-1043.[doi:10.13389/j.cnki.rao.2017.0263]
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DNA修复基因的多态性以及DNA损伤与年龄相关性白内障的关系/HTML
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
37卷
期数:
2017年11期
页码:
1040-1043
栏目:
应用研究
出版日期:
2017-11-05

文章信息/Info

Title:
Single nucleotide polymorphisms in DNA repair genes and the association of DNA damage with age-related cataract
作者:
苏舒; 朱蓉嵘; 胡楠; 周婧; 杨梅; 管怀进
226000　江苏省南通市，南通大学附属医院眼科
Author(s):
SU Shu; ZHU Rong-Rong; HU Nan; ZHOU Jing; YANG Mei; GUAN Huai-Jin
Eye Institute，Affiliated Hospital of Nantong University，Nantong 226000，Jiangsu Province，China
关键词:
年龄相关性白内障; DNA修复基因; DNA损伤; 单核苷酸多态性; 流行病学研究
Keywords:
age-related cataract; DNA repair genes; DNA damage; single nucleotide polymorphism; epidemiology
分类号:
R776
DOI:
10.13389/j.cnki.rao.2017.0263
文献标志码:
A
摘要:
目的　探讨DNA氧化损伤修复基因BLM、WRN、ERCC6以及OGG1的单核苷酸多态性（single nucleotide polymorphisms，SNP）是否影响年龄相关性白内障（age-related cataract，ARC）的发生，并检测SNP是否会引起外周血淋巴细胞DNA损伤程度的改变。方法　从“江苏眼病研究”人群收集ARC患者789例及对照组531例。提取DNA分析BLM、OGG1、ERCC6及WRN基因 18个SNP位点的基因型。同时应用彗星试验检测部分受试者外周血淋巴细胞的DNA损伤程度。结果　WRN-rs11574311与ARC、皮质型以及混合型ARC相关（P=0.003，OR=1.49；P=0.001，OR=1.68；P<0.000 1，OR=2.08），BLM-rs1063147 与核型ARC相关（P=0.03，OR=1.31），WRN-rs2725383与皮质型ARC相关（P=0.01，OR=1.49），WRN-rs4733220以及 WRN-rs2725338与混合型ARC相关 （P=0.04，OR=0.74；P=0.003，OR=0.60）。经过Bonferroni校正后，WRN-rs11574311 仍与皮质型以及混合型ARC相关，WRN-rs2725338仍然与混合型ARC相关。SNP位点不同基因型的外周血淋巴细胞DNA损伤程度的差异无统计学意义。结论　WRN基因在ARC的发生发展过程中起重要作用，而且在不同亚型ARC中所起的作用也有所不同，说明不同亚型ARC可能具有特异性的危险因素以及致病机制。
Abstract:
Objective　To examine the association of 18 single nucleotide polymorphisms (SNPs) in 4 DNA repair genes (BLM，WRN，ERCC6 and OGG1) with age-related cataract (ARC) in a Han Chinese population from Jiangsu Eye Study and to determine the possible functional consequence of the SNPs to DNA damage.Methods　Together 18 SNPs in 4 DNA repair genes were genotyped in 789 ARC patients and 531 normal controls from Jiangsu Eye Study.The Comet assay was conducted to assess the extent of DNA damage in peripheral lymphocytes of the selected subjects.Results　The results showed that WRN-rs11574311 was initially associated with ARC in general，cortical and mixed cataracts (P=0.003，OR=1.49；P=0.001，OR=1.68 and P<0.000 1，OR=2.08)，BLM-rs1063147 with nuclear cataracts (P=0.03，OR=1.31)，WRN-rs2725383 with cortical cataracts (P=0.01，OR=1.49)，WRN-rs4733220 and WRN-rs2725338 with mixed cataracts (P=0.04，OR=0.74 and P=0.003，OR=0.60).However，after Bonferroni corrections，WRN-rs11574311 was still associated with cortical and mixed cataracts，as well as WRN-rs2725338 with mixed cataracts.The difference in DNA damage of peripheral lymphocytes with SNP types did not approach statistical significance among groups (all P>0.05).Conclusion　WRN genes may have a vital role in ARC pathogenesis and exert a different action in ARC subtypes，which may be associated with different risk factors and mechanisms.

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备注/Memo

备注/Memo:
国家自然科学基金资助（编号：81070718）
更新日期/Last Update: 2017-11-01