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基质金属蛋白酶-2基因多态性对黄斑变性风险的影响:一项中国汉族人群病例对照研究

Risk of macular degeneration affected by polymorphisms in Matrix metalloproteinase-2: A case-control study in Chinese Han population.

作者信息

Cheng Jie, Hao Xiaolin, Zhang Zhongchen

机构信息

Department of Ophthalmology, Aerospace Central Hospital, Beijing, China.

出版信息

Medicine (Baltimore). 2017 Nov;96(47):e8190. doi: 10.1097/MD.0000000000008190.

Abstract

The purpose of this study was to investigate the correlation of single nucleotide polymorphisms (SNPs) in Matrix metalloproteinase -2 (MMP-2) gene and the risk of age-related macular degeneration (AMD) in Chinese Han population.A total of 126 AMD patients and 141 healthy controls participated in this study. Genotypes of MMP-2 gene polymorphisms were identified by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). χtest was used to detect the differences of genotypes and alleles frequencies between case and control groups. Relative risk of AMD was evaluated by odds ratios (ORs) with 95% confidence intervals (CIs).Distribution of variant allele carriers (computed tomography + TT genotypes) of MMP-2 gene rs243865 SNP was significantly different between case and control groups, and might act as protective factors for the onset of AMD (P = .044, OR = 0.583, 95% CI = 0.344-0.987). Nevertheless, the T allele might reduce the AMD risk (P = .030, OR = 0.611, 95% CI = 0.390-0.956). However, no significant association existed between rs243865 and AMD risk in the subgroup analysis based on age. GA + AA genotypes of rs243866 SNP may associate with a decreased risk of AMD in the age≤65 years subgroup (P = .028, OR = 0.399, 95% CI = 0.174-0.915).MMP-2 gene rs243865 and rs243866 SNPs associated with the risk of AMD. Further studies should be performed to confirm the results.

摘要

本研究旨在探讨基质金属蛋白酶-2(MMP-2)基因单核苷酸多态性(SNP)与中国汉族人群年龄相关性黄斑变性(AMD)风险的相关性。共有126例AMD患者和141名健康对照参与了本研究。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法鉴定MMP-2基因多态性的基因型。采用χ检验检测病例组和对照组之间基因型和等位基因频率的差异。通过比值比(OR)及95%置信区间(CI)评估AMD的相对风险。MMP-2基因rs243865 SNP的变异等位基因携带者(计算机断层扫描+TT基因型)在病例组和对照组之间的分布存在显著差异,可能是AMD发病的保护因素(P = 0.044,OR = 0.583,95%CI = 0.344-0.987)。然而,T等位基因可能降低AMD风险(P = 0.030,OR = 0.611,95%CI = 0.390-0.956)。然而,在基于年龄的亚组分析中,rs243865与AMD风险之间不存在显著关联。rs243866 SNP的GA+AA基因型可能与年龄≤65岁亚组中AMD风险降低相关(P = 0.028,OR = 0.399,95%CI = 0.174-0.915)。MMP-2基因rs243865和rs243866 SNPs与AMD风险相关。应进行进一步研究以证实该结果。

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