Both schizophrenia and bipolar disorder are severe mental disorders associated with cognitive impairment, mood disturbance, and psychosis. Both disorders are highly heritable and share a common genetic background. The present study examines differences in genotype frequencies of polymorphisms located in genes involved in neurodevelopment and synaptic plasticity between genetic high-risk individuals (offspring of patients with schizophrenia or bipolar disorder) and control subjects (offspring of community controls).

Two polymorphisms, CACNA1C rs10848683 and SYNE1 rs214950, showed significant differences. The frequency of heterozygotes for CACNA1C rs10848683 in genetic high-risk individuals was double that in controls. For SYNE1 rs214950, higher frequencies of heterozygotes and homozygotes for the minor allele were found in the genetic high-risk group compared to controls. The CACNA1C gene encodes for the alpha1C subunit of the voltage-dependent L-type calcium channel. The SYNE1 gene encodes a nesprin-1 protein involved in brain synaptic plasticity.

The authors concluded that polymorphisms in CACNA1C and SYNE1 could confer a greater risk of developing schizophrenia and bipolar disorder in individuals who are already at high risk because of their family history. This could help identify subjects with a very high genetic risk, in whom early detection and early intervention could lead to better prognosis.



Gassó P, Sánchez-Gistau V, Mas S, Sugranves G, Rodriguez N, Boloc D et al: Association of CACNA1C and SYNE1 in offspring of patients with psychiatric disorders. Psychiatry Res. 245: 427-435 (2016).


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