Department of Ophthalmology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China (mainland).
Med Sci Monit. 2018 Mar 22;24:1693-1700. doi: 10.12659/msm.906298.
BACKGROUND Increasing evidence shows that polymorphisms in a number of genes can influence age-related macular degeneration (AMD) risk. This study aimed to investigate the association of CX3CR1 839C/T, CX3CR1 745G/A, PLEKHA1 958A/G, VEGFA +674C/T, and VEGFA +936C/T polymorphisms with AMD risk among Chinese. MATERIAL AND METHODS The polymorphisms were genotyped on 827 AMD patients and 827 controls, and the odds ratios (ORs) were calculated under allele, additive, recessive, and dominant genetic models. Logistic regression analysis was performed to control for potential confounders (age, sex, and smoking status). RESULTS We showed that all the 5 polymorphisms showed a significant association with AMD risk under the additive model (for homozygous mutant genotype) and at least 1 other genetic model, both before and after adjustment for the potential confounders. PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014), while all other polymorphisms were associated with an increased AMD risk (CX3CR1 839C/T, additive model: aOR=2.682, 95% CI=1.119-5.709, P=0.022, recessive model: aOR=2.729, 95% CI=1.141-6.048, P=0.010; CX3CR1 745G/A, additive model: aOR=2.614, 95% CI=1.231-6.012, P=0.020, recessive model: aOR=2.340, 95% CI=1.227-5.993, P=0.011; VEGFA +674C/T, additive model: aOR=1.601, 95% CI=1.253-2.179, P<0.001, dominant model: aOR=1.287, 95% CI=1.058-1.570, P<0.001, allele model: OR=1.220, 95% CI=1.118-1.427, P<0.001; VEGFA +936C/T, additive model: aOR=1.509, 95% CI=1.105-2.311, P<0.001, recessive model: aOR=1.432, 95% CI=1.027-2.192, P=0.009, dominant model: aOR=1.207, 95% CI=1.031-1.514, P0.001, allele model: aOR=1.216, 95% CI=1.062-1.408, P<0.001). CONCLUSIONS We conclude that the 5 polymorphisms could serve as biomarkers for AMD susceptibility.
越来越多的证据表明，许多基因的多态性可以影响年龄相关性黄斑变性（AMD）的风险。本研究旨在探讨 CX3CR1 839C/T、CX3CR1 745G/A、PLEKHA1 958A/G、VEGFA +674C/T 和 VEGFA +936C/T 多态性与中国人群 AMD 风险的关系。
对 827 例 AMD 患者和 827 例对照进行了多态性基因分型，在等位基因、加性、隐性和显性遗传模型下计算了优势比（ORs）。采用 logistic 回归分析控制潜在混杂因素（年龄、性别和吸烟状况）。
我们发现，所有 5 种多态性在加性模型（纯合突变基因型）下以及在调整潜在混杂因素后，至少在另一种遗传模型下均与 AMD 风险显著相关。PLEKHA1 958A/G 多态性与 AMD 风险降低相关（加性模型：aOR=0.722，95%CI=0.450-0.979，P=0.019；等位基因模型：aOR=0.883，95%CI=0.736-0.992，P=0.014），而其他所有多态性均与 AMD 风险增加相关（CX3CR1 839C/T，加性模型：aOR=2.682，95%CI=1.119-5.709，P=0.022，隐性模型：aOR=2.729，95%CI=1.141-6.048，P=0.010；CX3CR1 745G/A，加性模型：aOR=2.614，95%CI=1.231-6.012，P=0.020，隐性模型：aOR=2.340，95%CI=1.227-5.993，P=0.011；VEGFA +674C/T，加性模型：aOR=1.601，95%CI=1.253-2.179，P<0.001，显性模型：aOR=1.287，95%CI=1.058-1.570，P<0.001，等位基因模型：OR=1.220，95%CI=1.118-1.427，P<0.001；VEGFA +936C/T，加性模型：aOR=1.509，95%CI=1.105-2.311，P<0.001，隐性模型：aOR=1.432，95%CI=1.027-2.192，P=0.009，显性模型：aOR=1.207，95%CI=1.031-1.514，P0.001，等位基因模型：aOR=1.216，95%CI=1.062-1.408，P<0.001）。
我们得出结论，这 5 个多态性可以作为 AMD 易感性的生物标志物。
