Department of Ophthalmology, Qilu Hospital of Shandong University, 107 Wenhuaxi Road, Jinan, China.
Curr Eye Res. 2011 Jan;36(1):60-5. doi: 10.3109/02713683.2010.524343.
To investigate polymorphisms in the pigment epithelium-derived factor (PEDF) gene in a Chinese cohort with exudative age-related macular degeneration (AMD).
Two common single nucleotide polymorphisms (SNPs), Met72Thr (rs1136287) and -5736T>C (rs12150053), were genotyped, and four tagSNPs (tSNPs) were detected statistically in the PEDF gene of 168 exudative AMD patients and 230 age- and sex-matched control participants. Genetic analyses for additive, dominant, and recessive models were performed on all the available genotype data. All the possible haplotypes of these six SNPs were detected.
No association was found between the patients and the control participants in the allele frequencies for any individual SNP. There was evidence to suggest that heterozygotes for rs1136287 (C/T) exerted a protective effect against exudative AMD (additive model, OR 0.59, CI 0.36-0.95, p = 0.03), but none of the p-values in the other genotype groups were statistically significant. Likewise, haplotype analyses did not provide any evidence for an association between SNPs in the PEDF gene and the risk of exudative AMD in this Chinese cohort (p > 0.05).
Detection of SNPs in the PEDF gene was not found to be significantly associated with exudative AMD in the Chinese cohort. Further studies of comprehensive PEDF gene variations are required to characterize the susceptibility of PEDF gene in the pathogenesis of AMD.
研究中国渗出型年龄相关性黄斑变性（AMD）患者中色素上皮衍生因子（PEDF）基因的多态性。
对PEDF 基因中的 2 个常见单核苷酸多态性（SNP）Met72Thr（rs1136287）和-5736T>C（rs12150053）进行基因分型，并对 168 例渗出型 AMD 患者和 230 名年龄和性别匹配的对照者进行统计检测PEDF 基因中的 4 个标签 SNP（tSNP）。对所有可用基因型数据进行加性、显性和隐性模型的遗传分析。检测这 6 个 SNP 的所有可能单倍型。
在个体 SNP 的等位基因频率方面，患者与对照组之间没有关联。rs1136287（C/T）杂合子对渗出型 AMD 有保护作用（加性模型，OR 0.59，CI 0.36-0.95，p=0.03），但其他基因型组的 p 值均无统计学意义。同样，单体型分析也没有为 PEDF 基因中的 SNPs 与中国队列渗出性 AMD 风险之间的关联提供任何证据（p>0.05）。
在中国人群中，PEDF 基因的 SNP 检测与渗出型 AMD 无显著相关性。需要进一步研究 PEDF 基因的全面变异，以阐明 PEDF 基因在 AMD 发病机制中的易感性。
