Abstract
The genetic contribution to different aspects of empathy is now established, although the exact loci are unknown. We undertook a genome-wide association study of emotional empathy (EE) as measured by emotion recognition skills in 4,780 8-year old children from the ALSPAC cohort who were genotyped and imputed to Phase 1 version 3 of the 1000 Genomes Project. We failed to find any genome-wide significant signal in either our unstratified analysis or analysis stratified according to sex. A gene-based association analysis similarly failed to find any significant loci. In contrast, our transcriptome-wide association study (TWAS) with a whole blood reference panel identified two significant loci in the unstratified analysis, residualised for the effects of age, sex and IQ. One signal was for CD93 on chromosome 20; this gene is not strongly expressed in the brain, however. The other signal was for AL118508, a non-protein coding pseudogene, which completely lies within CD93’s genomic coordinates, thereby explaining its signal. Neither are obvious candidates for involvement in the brain processes that underlie emotion recognition and its developmental pathways.
Highlights
The genetic contribution to different aspects of empathy is established, the exact loci are unknown
Both age and IQ were significantly correlated with DANVA3 scores, and DANVA3 scores differed significantly between males and females (DANVA3 scores: female > male, effect size = 0.2, p = 1.4 × 10−8)
Our principal GWAS analyses examined DANVA3 residualized for the effects of age, sex and IQ
Summary
The genetic contribution to different aspects of empathy is established, the exact loci are unknown. Our transcriptome-wide association study (TWAS) with a whole blood reference panel identified two significant loci in the unstratified analysis, residualised for the effects of age, sex and IQ. Empathy itself, referring to the ability to share an emotional experience with another person, has been extensively studied from a biological perspective[3]. Much progress has been made in delineating the underlying neuropsychological dimensions of both emotional and cognitive empathy using a variety of experimental paradigms[9]. These same dimensions have been mapped onto brain networks using functional neuroimaging[10]. Www.nature.com/scientificreports the role of more common variants, sometimes coupled with rare variants, consistent with the genetic landscape of other neurodevelopmental and complex medical disorders[14,15]
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