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Family history is a long-standing and readily obtainable risk factor for schizophrenia (SCZ). Low-cost genotyping technologies have enabled large genetic studies of SCZ, and the results suggest the utility of genetic risk scores (GRS, direct assessments of inherited common variant risk). Few studies have evaluated family history and GRS simultaneously to ask whether one can explain away the other.
We studied 5959 SCZ cases and 8717 controls from four Nordic countries. All subjects had family history data from national registers and genome-wide genotypes that were processed through the quality control procedures used by the Psychiatric Genomics Consortium. Using external training data, GRS were estimated for SCZ, bipolar disorder (BIP), major depression, autism, educational attainment, and body mass index. Multivariable modeling was used to estimate effect sizes.
Using harmonized genomic and national register data from Denmark, Estonia, Norway, and Sweden, we confirmed that family history of SCZ and GRS for SCZ and BIP were risk factors for SCZ. In a joint model, the effects of GRS for SCZ and BIP were essentially unchanged, and the effect of family history was attenuated but remained significant. The predictive capacity of a model including GRS and family history neared the minimum for clinical utility.
Combining national register data with measured genetic risk factors represents an important investigative approach for psychotic disorders. Our findings suggest the potential clinical utility of combining GRS and family history for early prediction and diagnostic improvements.
To assess the feasibility of combining short-term and long-term dietary assessment instruments as new concept for improving usual dietary intake assessment on the individual level.
Feasibility study of completing three 24 h dietary recalls (24-HDR) and a self-administered food propensity questionnaire (FPQ). The 24-HDR was conducted by monthly telephone interviews, using EPIC-SOFT software. The FPQ was completely standardized across cohorts and offered either as a web-based tool or in paper format.
Random sample derived from five ongoing European cohort studies (EPIC-San Sebastian, EPIC-Florence, EPIC-Potsdam, Estonia Genome Center (EGC) and Norwegian Women and Cancer study (NOWAC)).
A total of 400 participants.
Overall, the total participation rate for the present study was 65·3 % (n 261). On average, completion of the 24-HDR was highest for the first 24-HDR (63·0 %) and decreased slightly for the second (60·3 %) and third 24-HDR (56·3 %). The proportions of selecting the web-based FPQ varied among the study centres, with the highest in EGC (92·9 %) and NOWAC (70·0 %) and the lowest in EPIC-San Sebastian (25·5 %) and EPIC-Potsdam (33·9 %). Web users rarely requested support and were younger and more highly educated than those who completed the paper format.
The present study supports the feasibility of a combined application of three 24-HDR and an FPQ in culturally different populations. The varying acceptance of the web-based instrument across populations requires a flexible application of assessment instruments.
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