Abstract
Recognition and correct interpretation of facial emotion is essential for social interaction and communication. Previous studies have shown that impairments in this cognitive domain are common features of several psychiatric disorders. Recent association studies identified CACNA1C as one of the most promising genetic risk factors for psychiatric disorders and previous evidence suggests that the most replicated risk variant in CACNA1C (rs1006737) is affecting emotion recognition and processing. However, studies investigating the influence of rs1006737 on this intermediate phenotype in healthy subjects at the behavioral level are largely missing to date. Here, we applied the “Reading the Mind in the Eyes” test, a facial emotion recognition paradigm in a cohort of 92 healthy individuals to address this question. Whereas accuracy was not affected by genotype, CACNA1C rs1006737 risk-allele carries (AA/AG) showed significantly slower mean response times compared to individuals homozygous for the G-allele, indicating that healthy risk-allele carriers require more information to correctly identify a facial emotion. Our study is the first to provide evidence for an impairing behavioral effect of the CACNA1C risk variant rs1006737 on facial emotion recognition in healthy individuals and adds to the growing number of studies pointing towards CACNA1C as affecting intermediate phenotypes of psychiatric disorders.
Highlights
CACNA1C rs1006737 genotype on facial emotion recognition was discovered in bipolar patients
We investigated the influence of CACNA1C, a strong candidate gene for psychiatric disorders, on facial emotion recognition in healthy individuals to test its effect at the level of this intermediate phenotype
We found that carriers of the CACNA1C rs1006737 risk genotype (AA/AG) show a prolonged reaction time in the reading the mind in the eyes” task (RMET) compared to individuals homozygous for the non-risk genotype (GG), whereas the accuracy was not significantly different in both groups
Summary
CACNA1C rs1006737 genotype on facial emotion recognition was discovered in bipolar patients. Schizophrenia patients were not included in the study and the limited sample size (39 patients and 40 control individuals) might have been too small to allow the detection of effects in healthy subjects. These previous behavioral results confirm impairments in emotion recognition and processing as an intermediate phenotype of bipolar disorder and schizophrenia, but given the limited number of studies conducted far, the contribution of CACNA1C rs1006737 to emotion recognition and processing still needs to be determined. We designed the present study to clarify whether an effect of CACNA1C on emotion recognition can be detected at the behavioral level in healthy individuals. We have chosen the RMET as it is a sensitive test which is able to reveal subtle difficulties in emotional recognition and is suitable to study healthy individuals
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