JSNP Excellent Presentation Award for AsCNP2015: Schizophrenia-associated Genetic Variants on Chromosome 22ql3 Regulate NAG A Gene Expression in Dorsolateral Prefrontal Cortex

摘要

Schizophrenia is a common and complex psychiatric disease with an estimated heritability of up to 81%. Recently, the largest Genome-wide association studies (GWAS) in the Schizophrenia Working Group of the Psychiatric Genomics Consortium has identified128linkage-disequilibrium (LD)-independent variants in108 genomic loci (Ripke et al, 2014). This GWAS study identified four LD-independent schizophrenia-associated variants in three loci on chromosome 22. These three loci lie within 22ql3. For the vast majority of these108loci, the molecular mechanisms underlying susceptibility for schizophrenia are unknown. In general, SNPs associated with common diseases and phenotypes identified by GWAS are enriched for regulatory regions of the genome (Fu et al, 2012; Powell et al, 2013).