rs10518844 (DRAIC-TLE3): Cognitive Empathy Genetics

Key takeaways

• A genome-wide study of cognitive empathy in more than 89,000 people found the strongest single-variant genetic signal appeared only in female participants
• Common genetic variants together explain approximately 5.8% of the variation in cognitive empathy scores across the population
• Cognitive empathy has a twin heritability of about 28%, meaning genetics plays a real but not dominant role alongside environmental factors
• A gene at this locus shows increased expression in testis tissue in population-level data, though the biological meaning of this finding is not yet established
• Genetic overlap was found between cognitive empathy and anorexia nervosa, the openness personality trait, and measures of educational attainment

What the research says A genome-wide meta-analysis of cognitive empathy (defined as the ability to recognize what another person is thinking or feeling) used the "Reading the Mind in the Eyes" Test (Eyes Test) as its primary measure across 89,553 participants of European ancestry (88,056 from 23andMe, 1,497 from the Brisbane Longitudinal Twin Study). Common single nucleotide polymorphisms (SNPs, single-letter differences in DNA) explained 5.8% (95% CI: 0.45-0.72, P = 1.00 x 10-17) of total trait variance in both sexes, and twin-based heritability was estimated at 0.28 (95% CI: 0.13-0.42). Females scored higher than males on the Eyes Test by a moderate margin (Cohen's d = 0.21, P < 2.2 x 10-16), and a genome-wide significant locus was identified at chromosomal region 3p26.1 in female participants specifically (lead variant rs7641347, Pmeta = 1.58 x 10-8). Significant genetic correlations were also identified between Eyes Test performance and anorexia nervosa, the openness personality dimension (NEO-Five Factor Inventory), and multiple measures of educational attainment and cognitive aptitude.

Reported associations

• Cognitive empathy, female-specific locus: A genome-wide significant association was identified at chromosomal region 3p26.1 in females (lead variant rs7641347, Pmeta = 1.58 x 10-8); this signal was not detected at genome-wide significance in male or combined-sex analyses
• Cognitive empathy, polygenic contribution (both sexes): Common variants across the genome collectively explain 5.8% of total Eyes Test variance (P = 1.00 x 10-17, N = 89,553), indicating that many variants each contribute a small effect to the trait
• Anorexia nervosa (genetic correlation): A significant genetic overlap was identified between cognitive empathy scores and anorexia nervosa, reflecting shared genetic architecture rather than a direct causal link
• Openness personality trait (genetic correlation): Eyes Test performance showed significant genetic correlation with the openness dimension of personality as measured by the NEO-Five Factor Inventory
• Educational attainment and cognitive aptitude (genetic correlation): Significant genetic correlations were found between Eyes Test performance and multiple measures of educational attainment and cognitive ability

Evidence quality The cognitive empathy meta-analysis included over 89,000 participants of European ancestry, representing one of the largest published genetic studies of social cognition. Twin heritability was estimated from a smaller subsample of 749 twin individuals (122 complete monozygotic pairs and 176 complete dizygotic pairs), which limits the precision of that estimate (95% CI: 0.13-0.42). The genome-wide significant single-variant signal at 3p26.1 was identified only in females; the provided study text does not directly name rs10518844 or the DRAIC-TLE3 region, so the connection of this specific variant to the reported associations should be treated as preliminary pending direct replication. Genetic correlations with anorexia nervosa, openness, and educational attainment reflect genome-wide polygenic overlap and do not establish causal direction or magnitude. All participants were of European ancestry, which limits generalizability to other populations.

Tissue-specific expression effects

• ENSG00000309497: The alternate allele is associated with increased expression in testis tissue based on GTEx v11 data (953 donors, slope +0.61, FDR < 0.05) GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.