Autism spectrum disorder and four other psychiatric disorders may share genetic link

摘要

One of the largest genetic studies analyzing psychiatric illness, published recently in the Lancet, demonstrates that specific single nucleotide polymorphisms (SNPs) are associated with a range of psychiatric disorders. This finding, together with the variation found in calcium channel activity genes, which are thought to have pleiotropic effects on psychopathology, suggests that attempts should be made to move beyond descriptive syndromes in psychiatry. In this study, the Cross-Disorder Group of the Psychiatric Genomics Consortium attempted to delineate the specific variants underlying genetic effects shared by several psychiatric disorders and align current diagnostic categories with recent genetic findings. Genome-wide SNP data were analyzed in a cohort of 33,332 cases and 27,888 controls in order to characterize allelic effects on each of the five disorders: autism spectrum disorder; ADHD; bipolar disorder; major depressive disorder; and schizophrenia. Pathway analyses were used to establish the biological associations underlying genetic overlap in these disorders. "This analysis provides the first genome-wide evidence that individual and aggregate molecular genetic risk factors are shared between five childhood- or adult-onset psychiatric disorders that are treated as distinct categories in clinical practice," highlighted Jordan Smoller, a lead author of the study from Massachusetts General Hospital (MA, USA).