[1]王勇,杨梅,李渤,等.DNA甲基化转移酶（DNMT）3b基因的单核苷酸多态性与年龄相关性白内障[J].眼科新进展,2017,37(1):035-38.[doi:10.13389/j.cnki.rao.2017.0009]
　WANG Yong,YANG Mei,LI Bo,et al.Association of DNMT3b gene single nucleotide polymorphisms with age-related cataract[J].Recent Advances in Ophthalmology,2017,37(1):035-38.[doi:10.13389/j.cnki.rao.2017.0009]
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DNA甲基化转移酶（DNMT）3b基因的单核苷酸多态性与年龄相关性白内障/HTML
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
37卷
期数:
2017年1期
页码:
035-38
栏目:
应用研究
出版日期:
2017-01-05

文章信息/Info

Title:
Association of DNMT3b gene single nucleotide polymorphisms with age-related cataract
作者:
王勇; 杨梅; 李渤; 管怀进
226000　江苏省南通市，南通大学附属医院眼科
Author(s):
WANG Yong; YANG Mei; LI Bo; GUAN Huai-Jin
Department of Ophthalmology,the Affiliated Hospital of Nantong University,Nantong 226000,Jiangsu Province,China
关键词:
DNMT3b; 年龄相关性白内障; 单核苷酸多态性
Keywords:
DNMT3b; age-related cataract; single nucleotide polymorphisms
分类号:
R776.1
DOI:
10.13389/j.cnki.rao.2017.0009
文献标志码:
A
摘要:
目的　探讨江苏汉族人群中DNA甲基化转移酶(DNA methyltransferases,DNMT)3b基因的单核苷酸多态性（single nucleotide polymorphisms,SNP）与年龄相关性白内障(age-related cataract,ARC)的相关性。方法　选择江苏眼病研究阜宁县基地人群ARC确诊患者357例为ARC组，356例与患者年龄、性别相匹配且无亲属关系的健康者为对照组，入选者均为汉族。采用荧光定量PCR方法检测DNMT3b基因3个位点（rs2424908、rs6119954、rs2424932）SNP。Stata 13.0软件进行统计分析。结果　rs2424908位点不符合哈迪-温伯格平衡,故排除出结果分析。SNP位点rs6119954及rs2424932在对照组中基因型AA、AG、GG的分布频率分别为12.26%、43.73%、44.01%和0.28%、12.64%、84.55%，在ARC组中的分布频率分别为9.52%、32.49%、43.98%和0.28%、16.48%、83.24%，两组间各基因型分布频率差异均无统计学意义（均为P>0.05）。结论　DNMT3b基因SNP的位点rs6119954、rs2424932与江苏汉族人群中ARC发病无相关性。
Abstract:
Objective　To investigate the association of DNA methyltransferases 3b (DNMT3b) 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.Three SNPs of DNMT3b gene (rs2424908,rs6119954 and rs2424932) were genotyped by TaqMan-MGB probes using real time fluorescent quantitative PCR (qRT-PCR).Chi-square was used to test the allelic and genotypic associations between controls and ARCs.Results　The genotype of two SNPs in DNMT3b (rs6119954 and rs2424932) were TT/TC/CC,AA/AG/GG and AA/AG/GG,respectively,and the genotype frequencies in the controls were 12.26%,43.73%,44.01% and 0.28%,12.64%,84.55%,respectively.In ARCs,the genotype frequencies were 9.52%,32.49%,43.98% and 0.28%,16.48%,83.24%,respectively.There was no significant difference between the two groups (all P>0.05).Conclusion　The SNPs of DNMT3b (rs6119954 and rs2424932) are not associated with ARC in the Chinese Han population.

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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: 2017-02-15