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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发性阿尔茨海默氏痴呆的风险：欧洲早发性痴呆联合体研究

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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：对阿尔茨海默氏病（AD）的现有全基因组关联研究的荟萃分析显示，螯合体1（SQSTM1）基因中内含子变体与AD的亚基因组关联。我们对被选为遗传背景丰富的富兰德-比利时AD患者（n = 435）和地理匹配的未受影响个体（n = 872）进行了SQSTM1的靶向重测序，以研究常见和罕见的SQSTM1变体的作用。结果扩展到欧洲早发性痴呆人群（926例早发性阿尔茨海默病[EOAD]患者和1476例未受影响的个体）。在SQSTM1中检测到的61种外显子变体中，大多数是罕见的（n = 57）。罕见变体（次要等位基因频率<0.01）的负荷分析未显示在任何单独的研究人群中或在对所有队列进行荟萃分析时，EOAD患者中罕见变体的发生率均增加。仅当包括Flanders-Belgian时，常见变体p.D292-和p.R312-才显示与AD的名义关联（赔率（p.D292 =）-1.11 [95％置信区间= 1-1.22]，p = 0.04）。荟萃分析中的同类研究。我们不能排除SQSTM1遗传变异在晚期AD中的作用，但是我们的数据表明SQSTM1在EOAD的病因学中没有主要作用。 （C）2015作者。由Elsevier Inc.发布

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