P-176 - Too much, but also too little of calreticulin in the psychosis spectrum

Abstract

The majority of single nucleotide polymorphism association studies in psychiatric disorders suffer from lack of reproducibility, necessitating re-sequencing genes for the identification of novel rare variants and deleterious mutations. We have recently reported three low frequency mutations in the proximal promoter of the human calreticulin (CALR) gene at positions -48C, -205T and -220A that co-occur with the spectrum of psychoses, including schizophrenia, schizoaffective disorder, and bipolar disorder type I. The frequency of those mutations was estimated at