期刊
MOLECULAR PSYCHIATRY
卷 18, 期 1, 页码 38-52出版社
SPRINGERNATURE
DOI: 10.1038/mp.2012.34
关键词
CNV; functional genomics; GWAS; schizophrenia; sequencing; SNP
资金
- Australian National Health and Medical Research Council [631406, 631671]
- Queensland Health
After decades of halting progress, recent large genome-wide association studies (GWAS) are finally shining light on the genetic architecture of schizophrenia. The picture emerging is one of sobering complexity, involving large numbers of risk alleles across the entire allelic spectrum. The aims of this article are to summarize the key genetic findings to date and to compare and contrast methods for identifying additional risk alleles, including GWAS, targeted genotyping and sequencing. A further aim is to consider the challenges and opportunities involved in determining the functional basis of genetic associations, for instance using functional genomics, cellular models, animal models and imaging genetics. We conclude that diverse approaches will be required to identify and functionally characterize the full spectrum of risk variants for schizophrenia. These efforts should adhere to the stringent standards of statistical association developed for GWAS and are likely to entail very large sample sizes. Nonetheless, now more than any previous time, there are reasons for optimism and the ultimate goal of personalized interventions and therapeutics, although still distant, no longer seems unattainable. Molecular Psychiatry (2013) 18, 38-52; doi:10.1038/mp.2012.34; published online 1 May 2012
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