Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males

Carla M Startin; Chiara Fiorentini; Michelle de Haan; David H Skuse

doi:10.1371/journal.pone.0131604

Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males

PLoS One. 2015 Jun 24;10(6):e0131604. doi: 10.1371/journal.pone.0131604. eCollection 2015.

Authors

Carla M Startin¹, Chiara Fiorentini², Michelle de Haan¹, David H Skuse¹

Affiliations

¹ Institute of Child Health, University College London, London, United Kingdom.
² Institute of Child Health, University College London, London, United Kingdom; ARC Centre of Excellence in Cognition and its Disorders, School of Psychology, The University of Western Australia, Perth, Australia.

Abstract

Females outperform males on many social cognitive tasks. X-linked genes may contribute to this sex difference. Males possess one X chromosome, while females possess two X chromosomes. Functional variations in X-linked genes are therefore likely to impact more on males than females. Previous studies of X-monosomic women with Turner syndrome suggest a genetic association with facial fear recognition abilities at Xp11.3, specifically at a single nucleotide polymorphism (SNP rs7055196) within the EFHC2 gene. Based on a strong hypothesis, we investigated an association between variation at SNP rs7055196 and facial fear recognition and theory of mind abilities in males. As predicted, males possessing the G allele had significantly poorer facial fear detection accuracy and theory of mind abilities than males possessing the A allele (with SNP variant accounting for up to 4.6% of variance). Variation in the X-linked EFHC2 gene at SNP rs7055196 is therefore associated with social cognitive abilities in males.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Alleles
Calcium-Binding Proteins / genetics*
Chromosome Mapping
Cognition*
Facial Recognition
Fear
Genes, X-Linked*
Genetic Variation*
Humans
Male
Neuropsychological Tests
Polymorphism, Single Nucleotide
Psychometrics
Social Skills
Young Adult

Substances

Calcium-Binding Proteins
EFHC2 protein, human

Grants and funding

This work was performed as a part of a studentship provided to CMS, funded by the Great Ormond Street Hospital Children’s Charity and the Medical Research Council. MdH was supported by Great Ormond Street Hospital Children's Charity. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.