Genome-wide association studies of DNA microdeletions/microduplications represent modern genetic research methods applied in schizophrenia. It is possible to find important genes and their polymorphisms by these procedures, but the findings do not clarify schizophrenia pathogenesis.
That is why the genetics research into schizophrenia endophenotypes has recently been emphasized. Endophenotypes is ussually a neurobiological or neuropsychological marker associated with a certain disease, heritable and life-long, and also occurs in healthy relatives of the patients.
Neurophysiological, neuromotoric, neurocognitive, neuroanatomical and neurological endophenotypes are studies in schizophrenia most frequently. In this review article, we mention the most important schizophrenia endophenotypes including their biological background, and relevant genetic findings.
The problem is that schizophrenia is a clinically heterogenous mental disorder, so the appearance of individual endophenotypes in particular sybgroups may be significantly different. A multisite international genetic research into schizophrenia endophenotypes seems to be promising, but the procedures must be performed uniformly in all centers.
The finding and elucidation of the genetic background of schizophrenia may help in its treatment, prevention, and destigmatization.