Polymorphisms in PEDF linked with the susceptibility to age-related macular degeneration: A case-control study.
Polymorphisms in PEDF linked with the susceptibility to age-related macular degeneration: A case-control study.
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DOI：
10.1097/md.0000000000011981
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发表时间：
2018-08
期刊：
影响因子：
1.6
通讯作者：
Zhang Z
中科院分区：
文献类型：
--
作者：
Hao X;Cheng J;Zhang Z
目的探讨色素上皮衍生因子(PEDF)基因rs1136287、rs1894286基因多态性与中国北方人群老年性黄斑变性(AMD)发病风险的关系。本研究采用病例对照研究方法。对96例AMD患者和98例年龄、性别匹配的AMD患者进行rs1136287和rs1894286基因分型，采用聚合酶链式反应-限制性片段长度多态(PCR-RFLP)方法进行基因分型。采用χ-2检验进行哈代-温伯格平衡检验。用直接计数法计算基因、等位基因和单倍型的分布频率。用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，用优势比(OR)和95%可信区间(CI)表示中国北方人群患AMD的相对危险性。用Haploview软件进行连锁不平衡分析和单倍型分析。Rs1136287的基因型和等位基因分布频率在病例组和对照组之间有显著差异(P <； .05)。与CC型相比，TT等位基因可能是CC型的3.24倍(OR = 3.24，95%CI = 1.26~8.32)，C等位基因也增加了AMD的发病风险(OR = 1.58，95%CI = 1.06~2.38)。Rs1136287-rs1894286的T-C单倍型频率与AMD的易感性显著相关(OR = 1.57，95%CI = 1.02~2.40)。PEDF基因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。
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 χ2 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.