rs75968099

This data-driven study used sparse canonical correlation analysis (sCCA) to investigate relationships between bipolar disorder (BD) psychotic symptoms and schizophrenia genome-wide significant SNPs in 3,903 BD subjects. Analysis of 30 OPCRIT psychotic symptoms and 82 schizophrenia-associated SNPs identified a significant association (p=0.033) between rs11411529 and delusions of influence, bizarre behavior, and grandiose delusions. The same variant was associated with a symptom factor (factor 3) containing grandiose delusions and disorganized features (p=0.012), suggesting specific schizophrenia risk alleles influence psychotic symptom manifestation in bipolar disorder.

This paper presents CalPen, a web-based tool for calculating penetrance (disease likelihood given a mutation) in complex genetic disorders. The authors validated CalPen against published penetrance calculations for schizophrenia-associated copy number variants (CNVs) and single nucleotide polymorphisms (SNPs). They analyzed 15 CNVs in 39,059 schizophrenia patients and 55,084 controls (average penetrance 7%, ranging from ~1.4% for 15q11.2 deletions to ~20% for 22q11.21 CNVs) and 145 SNPs in 45,405 patients and 122,761 controls (average penetrance 0.7%, with rs1801028 showing the highest at 1.6%).