[1]王勇,杨梅,管怀进.ERCC6基因单核苷酸多态性与年龄相关性白内障的关联研究[J].眼科新进展,2016,36(11):1029-1031.[doi:10.13389/j.cnki.rao.2016.0274]
 WANG Yong,YANG Mei,GUAN Huai-Jin.Association of ERCC6 gene single nucleotide polymorphisms with age-related cataract[J].Recent Advances in Ophthalmology,2016,36(11):1029-1031.[doi:10.13389/j.cnki.rao.2016.0274]
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ERCC6基因单核苷酸多态性与年龄相关性白内障的关联研究
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
36卷
期数:
2016年11期
页码:
1029-1031
栏目:
应用研究
出版日期:
2016-11-05

文章信息/Info

Title:
Association of ERCC6 gene single nucleotide polymorphisms with age-related cataract
作者:
王勇杨梅管怀进
226000 江苏省南通市,南通大学附属医院眼科
Author(s):
WANG YongYANG MeiGUAN Huai-Jin
Eye Institute, the Affiliated Hospital of Nantong University . Nantong 226000 , Jiangsu Province , China
关键词:
ERCC6年龄相关性白内障单核苷酸多态性
Keywords:
ERCC6 age-related cataract single nucleotide polymorphisms
分类号:
R776.1
DOI:
10.13389/j.cnki.rao.2016.0274
文献标志码:
A
摘要:
目的 探讨江苏汉族人群中ERCC6基因单核苷酸多态性(singlenucleotidepoly-morphisms,SNP)与年龄相关性白内障(age-relatedcataract,ARC)的相关性。方法 收集江苏省阜宁县眼病研究数据库(现场工作于2010年6月至2011年5月进行)中357例ARC患者为ARC组,356例与患者年龄、性别相匹配且无亲属关系者为对照组。采用TaqMan-MGB探针实时荧光聚合酶链反应方法检测ERCC6基因4个位点(rs12571445、rs4253160、rs2228526、rs3793784)SNP。采用χ2检验比较对照组和ARC组之间等位基因及基因型分布是否有差异。结果 rs2228526在ARC组中等位基因G的频率为14.57%,高于对照组中10.81%,差异有统计学意义(P=0.033),提示等位基因G增加白内障的患病风险。该位点G等位基因和GG、GA基因型增加了核型白内障的患病风险(P=0.007;P=0.031)。其他位点差异均无统计学意义(rs12571445:P=0.33;rs4253160:P=0.65)。结论 ERCC6基因SNP-rs2228526位点与ARC发病存在关联,提示该SNP在核型ARC的发生发展中发挥着一定作用。
Abstract:
Objective To investigate the association of ERCC6 gene single nucleotide polymorphisms ( SNP) with age-related cataract ( ARC) in Jiangsu Chinese population. Methods Population-based case-control study. All of 357 cataract cases and 356 controls were selected from cataract eye database of Funing County from June 2010 to May 2011. All 4 single nucleotide polymorphism ( SNPs) of ERCC6 gene ( rs12571445 . rs4253160. rs2228526 and rs3793784 ) were genotyped by TaqMan-MGB probes using quantitative real time polymerase chain reaction ( qRT-PCR) . Chi-square was used to test the allelic and genotypic associations between controls and ARCs. Results The frequency of the minor G allele of rs2228526 was 14. 57% in the ARCs, and 10. 18% in the controls , there was ststiatical difference ( P = 0. 033 ) , indicating a risk role. Genotype frequency analysis , GG and GA were significant difference between controls and nuclear ARCs ( P = 0. 007, 0. 031 ). The other 3 SNPs were not associated with ARCs ( rs12571445 ,P = 0. 33 ; rs4253160 :P = 0. 65 ) . Conclusion The rs2228526 SNP of ERCC6 is associated with ARC , which may play a risk role in the development of nuclear ARC.

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备注/Memo

备注/Memo:
国家自然科学基金资助(编号:81470616)
更新日期/Last Update: 2016-11-29