目的：探讨中国东北地区汉族人群中年龄相关性黄斑变性(ARMD)与转铁蛋白受体2(TFR2)基因单核苷酸多态性的相关性。

方法：选取200例ARMD患者(干性100例，湿性100例)和100名健康志愿者(对照组)，采集所有研究对象的外周静脉血并以EDTA抗凝处理，提取基因组DNA，根据相关文献提供的引物序列，扩增TFR2基因多态性位点rs2075674，进行聚合酶链式反应(PCR)。比较各组间的基因型频率，并按照Hardy-Weinberg平衡原理确定样本的群体代表性。

结果：TFR2基因的多态性位点rs2075674 ARMD组与对照组比较有差异(χ²=6.494，P=0.011)； 湿性ARMD组与对照组比较有差异(χ²=11.054，P=0.001)，而干性ARMD组与对照组无差异(χ²=1.418，P=0.234)。

结论：中国东北地区汉族人群中TFR2基因多态性rs2075674与ARMD具有相关性，且与湿性ARMD相关性较大。

METHODS: Totally 200 patients with ARMD(dry-ARMD 100 individuals and wet-ARMD 100 individuals)and 100 healthy control people were chosen as the experiment team and control team. Peripheral venous blood were collected and anticoagulated dealed with EDTA. Then we extraced genome DNA and amplificate rs2075674, which was the polymorphic locus of TFR2 gene according to the primer sequences provided by references, for polymerase chain reaction(PCR). The group representativeness of samples is identified according to hardy Weinberg equilibrium principle.

RESULTS: We found that the difference between ARMD group and control group in the polymorphism of TFR2 gene rs2075674 is statistically significant(χ²=6.494, P=0.011). There was significant difference between the wet ARMD group and control group(χ²=11.054, P=0.001). There had no significant differences when it comes to the dry ARMD group and the control group(χ²=1.418, P=0.234).

CONCLUSION: The above findings indicate that polymorphism of TFR2 gene increases the risk of ARMD in the Han population of Northeast China. It is concluded that rs2075674 is significantly correlated with wet-ARMD.