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首页> 外文期刊>Neurobiology of Aging: Experimental and Clinical Research >Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study
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Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

机译：SQSTM1中的遗传变异性和早熟阿尔茨海默痴呆症的风险：欧洲早期发病痴呆联盟研究

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Meta-analysis of existing genome-wide association studies on Alzheimer's disease (AD) showed subgenome-wide association of an intronic variant in the sequestosome 1 (SQSTM1) gene with AD. We performed targeted resequencing of SQSTM1 in Flanders-Belgian AD patients selected to be enriched for a genetic background (n = 435) and geographically matched nonaffected individuals (n = 872) to investigate the role of both common and rare SQSTM1 variants. Results were extended to the European earlyonset dementia cohorts (926 early-onset Alzheimer's disease [EOAD] patients and 1476 nonaffected individuals). Of the 61 detected exonic variants in SQSTM1, the majority were rare (n = 57). Rare variant (minor allele frequency <0.01) burden analysis did not reveal an increased frequency of rare variants in EOAD patients in any of the separate study populations nor when meta-analyzing all cohorts. Common variants p.D292- and p.R312- showed nominal association with AD (odds ratio(p.D292=) - 1.11 [95% confidence interval = 1-1.22], p = 0.04), only when including the Flanders-Belgian cohort in the meta-analysis. We cannot exclude a role of SQSTM1 genetic variability in late-onset AD, but our data indicate that SQSTM1 does not play a major role in the etiology of EOAD. (C) 2015 The Authors. Published by Elsevier Inc.
机译：对阿尔茨海默病（AD）的现有基因组关联研究的荟萃分析显示封闭体1（SQSTM1）基因中的内血管内变化的群组合结合。我们在富人/比利时AD患者中进行了针对性重构SQSTM1，该患者被归类为遗传背景（n = 435）和地理位置的非受影响的个体（n = 872）来研究常见和罕见的SQSTM1变体的作用。结果延伸到欧洲孕期痴呆症队列（926年早期发病Alzheimer疾病[eoad]患者和1476名非受洋的人）。在61个检测到的SQSTM1中的偏振变种中，大多数是罕见的（n = 57）。罕见变种（轻微的等位基因频率<0.01）负荷分析没有揭示在任何单独的研究人群中的EAD患者中罕见变种的频率增加，也没有在荟萃分析所有队列时。常见变体P.D292-和P.R312-显示与Ad的标称关联（差距（P.D292 =） - 1.11 [95％置信区间= 1-1.22]，P = 0.04），仅在包括氟骑兵 - 比利时队列在Meta分析中。我们不能排除SQSTM1遗传可变性在后期开放广告中的作用，但我们的数据表明SQSTM1在eoad的病因中没有发挥重要作用。 （c）2015年作者。 elsevier公司发布

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