| 丁冰玉 刘泺 李欣欣 赵婉彤 张珊珊
李雅璇 王逸亭 刘遵建 李擎天 林萍.生长因子颗粒蛋白前体和肿瘤坏死因子受体基因启动子区改变与阿尔茨
海默病的相关性研究[J].,2016,16(28):5401-5404 |
| 生长因子颗粒蛋白前体和肿瘤坏死因子受体基因启动子区改变与阿尔茨
海默病的相关性研究 |
| The Correlation between the Changes in PGRN and TNFR Gene Promotersand Alzheimer's Disease |
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| DOI： |
| 中文关键词: 阿尔茨海默病 生长因子颗粒蛋白前体 肿瘤坏死因子受体 启动子区 甲基化 |
| 英文关键词: Alzheimer's disease (AD) Progranulin (PGRN) Tumor necrosis factor receptor (TNFR) Promoter Methylation |
| 基金项目:国家自然科学基金项目（81201334） |
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| 中文摘要: |
| 目的：探讨生长因子颗粒蛋白前体（PGRN）、肿瘤坏死因子受体（TNFR）基因启动子区改变以及全基因组DNA 甲基化与阿
尔茨海默病的相关性。方法：收集阿尔茨海默病患者血液样本80 例以及健康对照血液样本80 例，PCR 扩增PGRN和TNFR基因
启动子区并进行测序，观察两组间的单核苷酸多态性位点是否有差异。同时，用甲基化特异性PCR 法检测启动子区DNA 甲基化
情况以及用ELISA 法检测全基因组DNA 甲基化水平。结果：在TNFR 基因启动子区域发现阿尔茨海默病和对照组之间在多态性
位点rs4149570 和rs4149569 有显著性差异（P＜0.001 和P=0.033）。阿尔茨海默病患者全基因组甲基化水平为（0.79± 0.29）%，显
著低于对照组的（1.00± 0.36）%（P＜0.001）。结论：TNFR 基因多态性位点rs4149570 和rs4149569 的变异可能与阿尔茨海默病相
关，全基因组甲基化水平降低可能与阿尔茨海默病相关。 |
| 英文摘要: |
| Objective:To investigate the correlation between the Alzheimer's disease (AD) and the changes in promoter regions of
progranulin (PGRN) and tumor necrosis factor receptor (TNFR) and the whole genome DNA methylation status.Methods:Eighty blood
specimen were collected from Alzheimer's disease patients and another eighty blood specimen were collected from healthy people. The
promoter regions of PGRN and TNFR were amplified by Polymerase chain reaction (PCR) and were sequenced to detect the difference of
the sequence variations (SNPs) in two groups. At the same time, DNA methylation levels in PGRN and TNFR promoter regions and in
whole genome were detected with methlation specific PCR and ELISA respectively.Results:Significant differences were found in
rs4149570 and rs4149569 located in promoter regions of TNFR in patients compared to control group (P＜0.001 and P=0.033). The
whole genome methylation level was (0.79± 0.29)% in Alzheimer's disease group and lower than those in control group (1.00± 0.36)%
(P＜0.001).Conclusion:TNFR promoter gene rs4149570 and rs4149569 variants and the decrease of whole genome DNA methylation
were related to AD. |
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