Abstract
Genetics constitute a crucial risk factor to schizophrenia. In the last decade, molecular genetic research has produced novel findings, infusing optimism about discovering the biological roots of schizophrenia. However, the complexity of the object of inquiry makes it almost impossible for non-specialists in genetics (e.g., many clinicians and researchers) to get a proper understanding and appreciation of the genetic findings and their limitations. This study aims at facilitating such an understanding by providing a brief overview of some of the central methods and findings in schizophrenia genetics, from its historical origins to its current status, and also by addressing some limitations and challenges that confront this field of research. In short, the genetic architecture of schizophrenia has proven to be highly complex, heterogeneous and polygenic. The disease risk is constituted by numerous common genetic variants of only very small individual effect and by rare, highly penetrant genetic variants of larger effects. In spite of recent advances in molecular genetics, our knowledge of the etiopathogenesis of schizophrenia and the genotype-environment interactions remain limited.
Highlights
Despite a century of research, our knowledge of the etiology and pathogenetic unfolding of schizophrenia remains scarce
Twin studies documented that the concordance rate was elevated in monozygotic (MZ) twins compared to dizygotic (DZ) twins (Luxenburger, 1928; Kallmann, 1946; Slater, 1953)
In contrast to the initial monogenic and oligogenic models of genetic transmission, there is compelling evidence that the genetic architecture of schizophrenia is very complex, heterogeneous, and polygenic—the disease risk is constituted by numerous common genetic variants of only very small individual effects (e.g., single nucleotide polymorphisms (SNPs)) and by uncommon, highly penetrant genetic variants of larger effect (e.g., copy number variations (CNVs))
Summary
Despite a century of research, our knowledge of the etiology and pathogenetic unfolding of schizophrenia remains scarce. Genetic research in schizophrenia has experienced a new dawn infused by a regained optimism due to newly developed, far more advanced molecular, technological and statistical methods. The purpose of this article is to contribute to facilitate such an understanding by providing an accessible overview of some of the central methods and findings in genetic research in schizophrenia, from its historical origins to current status. We are not offering a comprehensive review of the entire field but a brief overview that may provide the reader with an initial orientation in the field. For this reason, we generally refrain from discussing the. We seek to articulate certain limitations and challenges that tend to be deemphasized in this field of psychiatric research
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