Instituto Universitario de Oftalmobiología Aplicada (IOBA), University of Valladolid, Valladolid, Spain.
Departament of Ophthalmology, Hospital Clínico Universitario de Valladolid, Valladolid, Spain.
PLoS One. 2019 Mar 7;14(3):e0213624. doi: 10.1371/journal.pone.0213624. eCollection 2019.
Several researchers have suggested that the rs243865 (16q13-q21) polymorphism in the promoter region of the metalloproteinase-2 (MMP-2) gene could be associated with an increased risk of developing age-related macular degeneration (AMD). However, previous results remain inconclusive. To clarify this controversy, we conducted a meta-analysis of the relationship between rs243865 of MMP-2 and AMD.
We included 6 independent case-control studies involving 1,682 AMD patients and 2,295 healthy subjects. The association between the rs243865 polymorphism and AMD was examined by the overall odds ratio (OR) with a 95% confidence interval (CI). We used a recessive genetic model analysis, sensitivity analysis, and assessment of bias in our meta-analysis.
Our results showed that there was no significant association between the variant T allele (p-value = 0.10, OR [95%CI] = 0.95 [0.82-1.10]) or the CT+TT genotype (p-value = 0.16, OR [95%CI] = 0.92 [0.76-1.12]) of rs243865 MMP-2 polymorphism and the presence of AMD.
The rs243865 MMP-2 polymorphism was not associated with an increased risk of developing AMD. The MMP-2 (-1306 C>T) promoter variant is unlikely to have a major role in AMD risk susceptibility.
一些研究人员认为，金属蛋白酶-2（MMP-2）基因启动子区域的 rs243865（16q13-q21）多态性可能与年龄相关性黄斑变性（AMD）的发病风险增加有关。然而，先前的结果并不一致。为了澄清这一争议，我们对 MMP-2 的 rs243865 与 AMD 之间的关系进行了荟萃分析。
我们纳入了 6 项独立的病例对照研究，共涉及 1682 名 AMD 患者和 2295 名健康对照。采用总体优势比（OR）及其 95%置信区间（CI）来检验 rs243865 多态性与 AMD 之间的关联。我们使用了隐性遗传模型分析、敏感性分析和荟萃分析中的偏倚评估。
我们的结果表明，rs243865 变体 T 等位基因（p 值=0.10，OR[95%CI]=0.95[0.82-1.10]）或 CT+TT 基因型（p 值=0.16，OR[95%CI]=0.92[0.76-1.12]）与 AMD 的存在之间没有显著关联。
rs243865 MMP-2 多态性与 AMD 发病风险增加无关。MMP-2（-1306 C>T）启动子变异不太可能在 AMD 风险易感性中起主要作用。
