Tan Wei, Hou Shengping, Jiang Zhengxuan, Hu Zheng, Yang Peizeng, Ye Jian
Department of Ophthalmology, Research Institute of Field Surgery, Da Ping Hospital, Third Military Medical University, Chongqing, PR China.
Mol Vis. 2011;17:1553-8. Epub 2011 Jun 9.
The gene for Eph-receptor tyrosinekinase-type A2 (EPHA2) has been shown to be involved in the pathogenesis of age-related cataract (ARC). The aim of this study was to examine whether EPHA2 polymorphisms were associated with the susceptibility to age-related cortical cataract in a Han Chinese population.
Five single-nucleotide polymorphisms (SNPs)-rs3768293, rs3754334, rs7548209, rs707455, and rs477558-in the EPHA2 gene were genotyped in 422 Han Chinese patients with age-related cortical cataract and 317 age-, sex-, and ethnically matched healthy controls using a PCR restriction fragment length polymorphism (PCR-RFLP) assay. Data were analyzed by χ(2) analysis.
The results showed that the five analyzed polymorphisms in EPHA2 were in Hardy-Weinberg equilibrium both in the patients and in the controls. The frequency of the rs477558 AA genotype was significantly increased in ARC patients compared with controls (χ(2)=8.649, pc=0.045, odds ratio [OR] 1.555, 95% CI 1.158 to 2.089). The frequency of the rs477558 AG genotype was significantly decreased in ARC patients compared with controls (χ(2)=9.281, pc=0.030, OR 0.626, 95% CI 0.463 to 0.847). Significantly higher frequencies of the GG genotype and the G allele of rs7548209 were observed in ARC patients compared with controls (χ(2)=10.430, pc=0.015, OR 1.660, 95% CI 1.219 to 2.261 and χ(2)=8.537, pc=0.015, OR 1.486, 95% CI 1.138 to 1.940, respectively). On the other hand, significantly decreased frequencies of the rs7548209 CG genotype and the C allele were observed in ARC patients compared with controls (χ(2)=9.999, pc=0.030, OR 0.603, 95% CI 0.440 to 0.826 and χ(2)=8.537, pc=0.015, OR 0.673, 95% CI 0.515 to 0.879, respectively). There was no difference in the frequencies of the genotype and allele of the rs3768293, rs3754334, and rs707455 SNPs between the patients with ARC and the controls.
Our study suggests that both SNP rs477558 and SNP rs7548209 of EPHA2 are associated with age-related cortical cataract in a Han Chinese population.
Eph受体酪氨酸激酶A2型（EPHA2）基因已被证明与年龄相关性白内障（ARC）的发病机制有关。本研究的目的是探讨EPHA2基因多态性是否与中国汉族人群年龄相关性皮质性白内障的易感性相关。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析法，对422例中国汉族年龄相关性皮质性白内障患者和317例年龄、性别和种族匹配的健康对照者的EPHA2基因中的5个单核苷酸多态性（SNP）——rs3768293、rs3754334、rs7548209、rs707455和rs477558进行基因分型。采用χ²分析对数据进行分析。
结果显示，EPHA2基因中分析的5个多态性在患者和对照中均处于Hardy-Weinberg平衡。与对照组相比，ARC患者中rs477558 AA基因型的频率显著增加（χ²=8.649，pc=0.045，比值比[OR]1.555，95%可信区间1.158至2.089）。与对照组相比，ARC患者中rs477558 AG基因型的频率显著降低（χ²=9.281，pc=0.030，OR 0.626，95%可信区间0.463至0.847）。与对照组相比，ARC患者中rs7548209的GG基因型和G等位基因的频率显著更高（χ²=10.430，pc=0.015，OR 1.660，95%可信区间1.219至2.261；χ²=8.537，pc=0.015，OR 1.486，95%可信区间1.138至1.940）。另一方面，与对照组相比，ARC患者中rs7548209的CG基因型和C等位基因的频率显著降低（χ²=9.999，pc=0.030，OR 0.603，95%可信区间0.440至0.826；χ²=8.537，pc=0.015，OR 0.673，95%可信区间0.515至0.879）。ARC患者与对照组之间rs3768293、rs3754334和rs707455 SNP的基因型和等位基因频率没有差异。
我们的研究表明，EPHA2基因的SNP rs477558和SNP rs7548209均与中国汉族人群年龄相关性皮质性白内障有关。
