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

Association of DNMT3b gene single nucleotide polymorphisms with age-related cataract

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。

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 （ rs5119954 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.