Gene Expression and Methylation Analysis of ABCA7 in Patients with Alzheimer's Disease.
Gene Expression and Methylation Analysis of ABCA7 in Patients with Alzheimer's Disease.
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DOI：
10.3233/jad-161195
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发表时间：
2017
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通讯作者：
Kiyohiro Yamazaki;Yuta Yoshino;Takaaki Mori;Taku Yoshida;Yuki Ozaki;T. Sao;Yoko Mori;Shinichiro Ochi;Jun‐ichi Iga;S. Ueno
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文献类型：
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作者：
Kiyohiro Yamazaki;Yuta Yoshino;Takaaki Mori;Taku Yoshida;Yuki Ozaki;T. Sao;Yoko Mori;Shinichiro Ochi;Jun‐ichi Iga;S. Ueno
背景/目的检测AD患者血液中ATP结合盒亚家族A成员7基因（ABCA 7）的表达及甲基化情况。方法AD患者50例，男性11例，年龄（77.7±6.05）岁，健康对照组50例。检测ABCA 7基因单核苷酸多态性（rs3764650）、ABCA 7启动子区CpG位点甲基化率和外周血ABCA 7 mRNA表达水平。结果AD患者rs3764650基因多态性分布与对照组无差异。AD患者ABCA 7基因甲基化率与对照组相比差异无统计学意义，但其mRNA表达水平显著高于对照组。此外，AD受试者中ABCA 7 mRNA表达水平与简易精神状态检查回忆、阿尔茨海默病评估量表总分和临床痴呆评定评分显著相关。我们还发现ABCA 7 mRNA表达水平与疾病持续时间之间存在显著相关性。结论外周血ABCA 7 mRNA表达水平可能是AD早期和疾病进展的标志物，与rs3764650及其启动子甲基化率无关。
BACKGROUND/OBJECTIVE The aim of this study was to examine the blood gene expression and methylation of ATP-binding cassette sub-family A member 7 gene (ABCA7) as a biological marker of AD. METHODS AD subjects (n = 50; 11 males, 77.7±6.05 years old) and age- and sex-matched healthy controls (n = 50) were recruited. A single nucleotide polymorphism in ABCA7 (rs3764650), methylation rates of CpG sites in the ABCA7 promoter region, and ABCA7 mRNA expression levels in peripheral blood were examined. RESULTS The distribution of the rs3764650 polymorphism in AD subjects was not different from that of controls. Although the methylation rates of AD subjects were not significantly different from those of controls, the ABCA7 mRNA expression level in AD subjects was significantly higher than that in controls. Additionally, the ABCA7 mRNA expression level in AD subjects was significantly correlated with Mini-Mental State Examination recall, the Alzheimer's Disease Assessment Scale total score, and the Clinical Dementia Rating score. We also found a significant correlation between the ABCA7 mRNA expression level and duration of illness. CONCLUSION The ABCA7 mRNA expression level in peripheral blood may be a marker for early stages of AD and disease progression regardless of rs3764650 and the methylation rate of its promoter.