TERT基因单核苷酸多态性与年龄相关性黄斑变性的关联研究

Association between genetic polymorphisms of TERT with susceptibility of age-related macular degeneration

目的:探讨端粒酶逆转录酶(TERT)基因单核苷酸多态性(SNP)与年龄相关性黄斑变性(ARMD)发生风险的关联性。方法:采用高通量基因质谱技术检测191例ARMD患者(病例组)和197例健康体检者(对照组)TERT基因7个已报道的与端粒长度有关的SNP位点,通过Logistic回归评估其等位基因、基因型与ARMD发病风险的关系。结果:TERT基因SNP位点rs10069690基因型CC、CT、TT在病例组和对照组受检者中的分布频率分别为64.4%、31.4%、4.2%和74.6%、22.8%、2.5%,人群分布存在显著差异;携带CT+TT基因型的人群发生ARMD的风险显著增加(OR=1.63,95%CI 1.05~2.53)。结论:TERT基因SNP位点rs10069690与ARMD发病风险存在显著关联。

AIM:To investigate the relationship between single nucleotide polymorphism(SNP)in the TERT gene and risk of age-related macular degeneration(ARMD).METHODS:Seven reported SNPs in TERT were selected and genotyped using SEQUENOM MassArray technology in 191 ARMD patients and 197 healthy normal controls.The correlations of the alleles,genotypes and the susceptibility of ARMD were evaluated by Logistic regression analysis.RESULTS:The frequencies of SNP rs10069690 CC,CT,TT genotypes in ARMD patients were 64.4%,31.4%,4.2%compared with 74.6%,22.8%,2.5%in normal controls,respectively.Genetic model analysis revealed that SNP rs10069690 CT+TT genotypes were significantly associated with an increased risk of ARMD patients(OR=1.63,95%CI=1.05-2.53).CONCLUSION:SNP rs10069690 in the TERT gene is associated with the risk of ARMD.