Hao Xiaolin, Cheng Jie, Zhang Zhongchen
Department Of Ophthalmology, Aerospace Central Hospital, Beijing, China.
Medicine (Baltimore). 2018 Aug;97(34):e11981. doi: 10.1097/MD.0000000000011981.
To study the relationship between pigment epithelium-derived factor (PEDF) rs1136287, rs1894286 polymorphisms and the risk of age-related macular degeneration (AMD) in northern Chinese populations.The study was carried out on case-control methods. Ninety-six patients with AMD and 98 health controls were recruited who were matched with the former by age and gender, rs1136287 and rs1894286 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Hardy-Weinberg equilibrium (HWE) was also checked by χ test. The distribution frequencies of genotype, allele, and haplotype were calculated by direct counting method. The genotype, allele, and haplotype distribution differences between the case and control groups were analyzed by chi-square test, and odds ratio (OR) and 95% confidence interval (CI) was used to express the relative risk of AMD in northern Chinese populations. The linkage disequilibrium (LD) and haplotype analyses were conducted with Haploview software.The genotype and allele distribution frequencies in rs1136287 were obviously between in cases and controls (P < .05). TT genotype might lead to 3.24 times risk of AMD occurrence compared with CC genotype (OR = 3.24, 95% CI = 1.26-8.32), and C allele also played an increased risk role in the attack of AMD (OR = 1.58, 95% CI = 1.06-2.38). The T-C haplotype frequency of rs1136287-rs1894286 in PEDF were significantly correlated to the increased susceptibility to AMD (OR = 1.57, 95% CI = 1.02-2.40).The rs1136287 polymorphism in PEDF may be related to the occurrence risk of AMD. Additionally, a haplotype is also a non-ignorable risk factor.
研究色素上皮衍生因子（PEDF）rs1136287、rs1894286基因多态性与中国北方人群年龄相关性黄斑变性（AMD）风险之间的关系。本研究采用病例对照研究方法。招募了96例AMD患者和98名健康对照者，后者在年龄和性别上与前者相匹配，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对rs1136287和rs1894286进行基因分型。通过χ检验检查哈迪-温伯格平衡（HWE）。采用直接计数法计算基因型、等位基因和单倍型的分布频率。通过卡方检验分析病例组和对照组之间的基因型、等位基因和单倍型分布差异，并用比值比（OR）和95%置信区间（CI）表示中国北方人群患AMD的相对风险。使用Haploview软件进行连锁不平衡（LD）和单倍型分析。rs1136287的基因型和等位基因分布频率在病例组和对照组之间存在明显差异（P<0.05）。与CC基因型相比，TT基因型可能导致AMD发生风险增加3.24倍（OR=3.24，95%CI=1.26-8.32），C等位基因在AMD发病中也起增加风险的作用（OR=1.58，95%CI=1.06-2.38）。PEDF中rs1136287-rs1894分286的T-C单倍型频率与AMD易感性增加显著相关（OR=1.57，95%CI=1.02-2.40）。PEDF中的rs1136287基因多态性可能与AMD的发生风险有关。此外，单倍型也是一个不可忽视的风险因素。
