A family study of endophenotypes for psychosis within an early intervention programme in Hong Kong: Rationale and preliminary findings

The study of endophenotypes may be a viable strategy to tackle the genetic complexity and phenotypic heterogeneity of psychosis, but this research direction is relatively under-developed in China as compared to Western countries. We have recently initiated one of the first family studies of endophenotypes for psychosis in China. Patients entering an established early psychosis intervention service are recruited into this research project for phenotyping, endophenotyping and genotyping. At the endophenotypic...     

Consortium for the Human Information and Neurocognitive Endophenotype （CHINE） in mainland China： An example from neurological soft signs for neuropsychiatric disorders

Increasing efforts to identify alternate expressions of neuropsychiatric disorders that are broader than the DSM or ICD diagnostic criteria needed to diagnose them reflects a growing consensus that multidimensional expressions of neuropsychiatric disorders may advance the search for underlying etiological or modulatory factors. Endophenotypic research can be considered to be one of the most promising strategies to bridge the gap between genomic complexity and the phenotypic heterogeneity observed in neuropsychiatric disorders. However, the majority of endophenotype studies were limited to our western counterparts, very little has been done and initiated by scholars in mainland China. In this paper, we urge the need to establish a potential central consortium for endophenotypes to study neuropsychiatric disorders in mainland China. In particular, we illustrate a potential example of neurological soft signs in following the steps for building the consortium.     

Statistical issues and approaches in endophenotype research

The endophenotype concept was initially proposed to enhance the power of genetic studies of complex disorders. It is closely related to the genetic component in a liability-threshold model; a perfect endophenotype should have a correlation of 1 with the genetic component of the liability to disease. In reality, a putative endophenotype is unlikely to be a perfect representation of the genetic component of disease liability. The magnitude of the correlation between a putative endophenotype and the genetic co...