Whole genome association study of quantitative psychosis proneness scales in the general population

Abstract

Common concepts of psychosis proneness follow a stress-diathesis model in which the neurobiological vulnerability is expected to be present in the general population as a latent trait or taxon that can be assessed in the form of schizotypic that is psychotic like, enduring personality features by self-rated psychometric tests. We have performed a whole genome association study of such psychosis proneness measures in the general population. For this, we utilized the birth cohort study of northern Finland (NFBC66). Originally, everyone born in the catchment area in 1966 (n=12058) were included in the study. Of these, 4561 (38%) attended the 31-year follow-up and could be included in this stage of the study. The subjects filled out four psychometric scales designed to function as quantitatively measurable proxies of psychosis proneness. The scales were the revised Social Anhedonia Scale, the revised Physical Anhedonia Scale, the Perceptual Aberration Scale and the Golden and Meehl Schizoidia Scale. We have previously used this strategy to show association between markers in DISC1 and Social Anhedonia, a finding that closely replicated earlier associations in schizophrenia and bipolar disorder. The genotyping was performed on Illumina Infinium Assay, using the HumanHap370 marker set. This approach of using quantitative phenotypes that are possible to assess in large population cohorts can be powerful way if identifying genes that predispose also to the related clinical disorders, in this case psychosis.