Santoro Marcos L, Moretti Patricia N, Pellegrino Renata, Gadelha Ary, Abílio Vanessa C, Hayashi Mirian A F, Belangero Sintia I, Hakonarson Hakon
Interdisciplinary Laboratory of Clinical Neurosciences, Federal University of Sao Paulo (UNIFESP), Sao Paulo, SP, Brazil.
Department of Psychiatry, Federal University of Sao Paulo (UNIFESP), Sao Paulo, SP, Brazil.
Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):997-1005. doi: 10.1002/ajmg.b.32475. Epub 2016 Aug 3.
In the past decade, numerous advances were achieved in psychiatric genetics. Particularly, the genome wide association studies (GWAS) have contributed to uncovering new genes and pathways associated to psychiatric disorders (PDs). At the same time, with increasing sample sizes in the GWAS, the polygenic risk score (PRS) promoted an additional tool for identification and evaluation the genetic risk quantitatively in PDs. This concept review presents the state of the art GWAS analysis and PRS focusing on the genetic underpinnings of PDs. © 2016 Wiley Periodicals, Inc.
在过去十年中，精神病遗传学取得了诸多进展。特别是，全基因组关联研究（GWAS）有助于发现与精神疾病（PDs）相关的新基因和通路。与此同时，随着GWAS样本量的增加，多基因风险评分（PRS）成为了一种额外的工具，用于定量识别和评估PDs中的遗传风险。本概念综述介绍了聚焦于PDs遗传基础的最新GWAS分析和PRS情况。© 2016威利期刊公司。
