GWAS 揭示精神分裂症和双相情感障碍的遗传基础：系统综述。
Unravelling the genetic basis of schizophrenia and bipolar disorder with GWAS: A systematic review.
机构信息
Instituto de Biofísica e Engenharia Biomédica, Faculdade de Ciências, Universidade de Lisboa, Portugal; Centre for Neuroimaging Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, 16 De Crespigny Park, SE5 8AF, UK; Instituto Universitário de Lisboa (ISCTE-IUL), Centro de Investigação e Intervenção Social, Lisboa, Portugal.
Lisbon Medical School, University of Lisbon, Av. Professor Egas Moniz, 1649-028, Lisbon, Portugal; Centro Hospitalar Psiquiátrico de Lisboa, Av. do Brasil, 53 1749-002, Lisbon, Portugal.
出版信息
J Psychiatr Res. 2019 Jul;114:178-207. doi: 10.1016/j.jpsychires.2019.04.007. Epub 2019 Apr 12.
OBJECTIVES
To systematically review findings of GWAS in schizophrenia (SZ) and in bipolar disorder (BD); and to interpret findings, with a focus on identifying independent replications.
METHOD
PubMed search, selection and review of all independent GWAS in SZ or BD, published since March 2011, i.e. studies using non-overlapping samples within each article, between articles, and with those of the previous review (Li et al., 2012).
RESULTS
From the 22 GWAS included in this review, the genetic associations surviving standard GWAS-significance were for genetic markers in the regions of ACSL3/KCNE4, ADCY2, AMBRA1, ANK3, BRP44, DTL, FBLN1, HHAT, INTS7, LOC392301, LOC645434/NMBR, LOC729457, LRRFIP1, LSM1, MDM1, MHC, MIR2113/POU3F2, NDST3, NKAPL, ODZ4, PGBD1, RENBP, TRANK1, TSPAN18, TWIST2, UGT1A1/HJURP, WHSC1L1/FGFR1 and ZKSCAN4. All genes implicated across both reviews are discussed in terms of their function and implication in neuropsychiatry.
CONCLUSION
Taking all GWAS to date into account, AMBRA1, ANK3, ARNTL, CDH13, EFHD1 (albeit with different alleles), MHC, PLXNA2 and UGT1A1 have been implicated in either disorder in at least two reportedly non-overlapping samples. Additionally, evidence for a SZ/BD common genetic basis is most strongly supported by the implication of ANK3, NDST3, and PLXNA2.
目的
系统综述精神分裂症（SZ）和双相情感障碍（BD）的 GWAS 研究结果；并解释研究结果，重点是确定独立的重复研究。
方法
在 PubMed 上进行搜索，选择并回顾了自 2011 年 3 月以来发表的所有关于 SZ 或 BD 的独立 GWAS 研究，即每个文章、文章之间以及与之前综述（Li 等人，2012 年）中使用非重叠样本的研究。
结果
在本综述中纳入的 22 项 GWAS 研究中，经过标准 GWAS 显著性检验的遗传关联存在于 ACSL3/KCNE4、ADCY2、AMBRA1、ANK3、BRP44、DTL、FBLN1、HHAT、INTS7、LOC392301、LOC645434/NMBR、LOC729457、LRRFIP1、LSM1、MDM1、MHC、MIR2113/POU3F2、NDST3、NKAPL、ODZ4、PGBD1、RENBP、TRANK1、TSPAN18、TWIST2、UGT1A1/HJURP、WHSC1L1/FGFR1 和 ZKSCAN4 等区域的遗传标记中。所有在两次综述中都涉及到的基因都根据其功能和对神经精神疾病的影响进行了讨论。
结论
考虑到迄今为止所有的 GWAS 研究，AMBRA1、ANK3、ARNTL、CDH13、EFHD1（尽管等位基因不同）、MHC、PLXNA2 和 UGT1A1 已经在至少两个报道的非重叠样本中被涉及到两种疾病。此外，ANK3、NDST3 和 PLXNA2 的涉及为 SZ/BD 共同遗传基础提供了最有力的证据。
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