title: CACNA1C risk variant affects facial emotion recognition in healthy individuals.
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.
authors.affiliation: Department of Psychiatry and Psychotherapy, University of Tübingen, Calwerstrasse 14, 72076 Tübingen, Germany.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Nieratschker
authors.affiliation: Department of Psychiatry and Psychotherapy, University of Tübingen, Calwerstrasse 14, 72076 Tübingen, Germany.
authors.forename: Christof
authors.initials: C
authors.lastname: Brückmann
authors.affiliation: Department of Psychiatry and Psychotherapy, University of Tübingen, Calwerstrasse 14, 72076 Tübingen, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Plewnia
mesh_terms: D000328:Adult; D000483:Alleles; D020746:Calcium Channels, L-Type / Q000235:genetics*; D004644:Emotions / Q000502:physiology*; D005145:Face; D005149:Facial Expression; D005260:Female; D015870:Gene Expression; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010364:Pattern Recognition, Visual / Q000502:physiology*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011930:Reaction Time / Q000235:genetics*; D012306:Risk
chemical_list: C079146:CACNA1C protein, human; D020746:Calcium Channels, L-Type