A genome-wide association study of sleep habits and insomnia.

A genome-wide association study of sleep habits and insomnia.
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睡眠习惯和失眠的全基因组关联研究。

DOI:
10.1002/ajmg.b.32168
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发表时间:
2013-07
影响因子:
2.8
通讯作者:
Wray, Naomi R.
Wray, Naomi R.
中科院分区:
医学3区
文献类型:
--
作者:
Byrne, Enda M.;Gehrman, Philip R.;Medland, Sarah E.;Nyholt, Dale R.;Heath, Andrew C.;Madden, Pamela A. F.;Hickie, Ian B.;Van Duijn, Cornelia M.;Henders, Anjali K.;Montgomery, Grant W.;Martin, Nicholas G.;Wray, Naomi R.

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睡眠行为的几个方面,如时间,持续时间和质量已被证明是遗传的。为了确定影响人群睡眠特征的常见变异,我们对来自澳大利亚双胞胎登记处的2,323名个体进行了一项全基因组关联研究,通过问卷调查评估了6种睡眠表型。在Illumina 317K、370K和610K阵列上进行基因分型,并使用平台之间常见的单核苷酸多态性来插补未分型的SNP。我们测试了与基因组中超过2,000,000种常见多态性的关联。虽然没有SNPs达到全基因组显著性阈值,但我们在可能的候选基因中发现了一些相关性。最值得注意的是,CACNA1C基因第3内含子中的一组SNP在睡眠潜伏期分析中被列为最显著的(p = 1.3 × 10−6)。我们试图在来自Chronogen Consortium的独立样本(n = 2,034)中复制这种关联,但没有发现关联的证据(p = 0.73)。我们已经确定了其他几个协会,等待在一个独立的样本复制。我们的研究有很好的能力来检测常见的单核苷酸多态性,这些多态性在全基因组显著水平上解释了自我报告的睡眠表型中超过2%的表型变异。未检测到此类变体。
Several aspects of sleep behaviour such as timing, duration and quality have been demonstrated to be heritable. To identify common variants that influence sleep traits in the population, we conducted a genome-wide association study of 6 sleep phenotypes assessed by questionnaire in a sample of 2,323 individuals from the Australian Twin Registry. Genotyping was performed on the Illumina 317K, 370K and 610K arrays and the common Single Nucleotide Polymorphisms between platforms were used to impute non-genotyped SNPs. We tested for association with more than 2,000,000 common polymorphisms across the genome. While no SNPs reached the genome-wide significance threshold, we identified a number of associations in plausible candidate genes. Most notably, a group of SNPs in the 3rd intron of the CACNA1C gene ranked as most significant in the analysis of sleep latency (p = 1.3 × 10−6). We attempted to replicate this association in an independent sample from the Chronogen Consortium (n = 2,034), but found no evidence of association (p = 0.73). We have identified several other associations that await replication in an independent sample. Our study had good power to detect common single nucleotide polymorphisms that explain more than 2% of the phenotypic variance in self-report sleep phenotypes at a genome-wide significant level. No such variants were detected.
DOI: 10.1086/521580
发表时间: 2007-11-01
影响因子: 9.8
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