Genetics of complex traits in psychiatry.

Genetics of complex traits in psychiatry.
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DOI:
10.1016/j.biopsych.2014.08.005
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发表时间:
2015-01-01
影响因子:
10.6
通讯作者:
Gelernter J
Gelernter J
中科院分区:
医学1区
文献类型:
--
作者:
Gelernter J

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事实上,所有的精神病特征都是基因复杂的。本文讨论了精神病学中复杂性状的遗传学。复杂性是由许多因素,包括多个风险等位基因,上位性和表观遗传效应,如甲基化。风险等位基因可以单独地是常见的或罕见的,并且可以包括例如单核苷酸多态性(SNP)和拷贝数变异(CNV),其是传播的或新的突变,以及其他种类的变异。许多不同类型的变异对于性状风险都可能很重要,无论是以不同的比例组合在一起,还是作为不同受试者的不同因素。直到最近,我们的方法复杂的性状是有限的,因此只有少数的变异,通常是个别影响较小,被确定。目前,我们有一个更丰富的医疗设备,包括全基因组关联研究(GWAS)和下一代高通量测序(NextGen)的常规应用;以及这些信息与其他生物学相关信息的组合,如表达数据。我们还看到了大型荟萃分析和大型分析联盟的出现。这些发展对精神病遗传学极为重要,大大推动了这一领域的发展,并有望在未来几年内取得巨大成就,因为它们的应用更加广泛。
Virtually all psychiatric traits are genetically complex. This article discusses the genetics of complex traits in psychiatry. The complexity is accounted for by numerous factors, including multiple risk alleles, epistasis, and epigenetic effects, such as methylation. Risk alleles can individually be common or rare, and can include, for example, single nucleotide polymorphisms (SNPs) and copy number variants (CNV) that are transmitted or are new mutations, and other kinds of variation. Many different kinds of variation can be important for trait risk, either together in various proportions, or as different factors in different subjects. Until recently, our approaches to complex traits were limited, and consequently only a small number of variants, usually of individually minor effect, were identified. Currently, we have a much richer armamentarium that includes the routine application of genomewide association studies (GWAS) and next-generation high throughput sequencing (NextGen); and the combination of this information with other biologically relevant information, such as expression data. We have also seen the emergence of large meta-analysis and mega-analysis consortia. These developments are extremely important for psychiatric genetics, have moved the field forward substantially, and promise formidable gains in the years to come as they are applied more widely.
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