title: Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males.
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.
authors.affiliation: Institute of Child Health, University College London, London, United Kingdom.
authors.forename: Carla M
authors.initials: CM
authors.lastname: Startin
authors.affiliation: 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.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fiorentini
authors.affiliation: Institute of Child Health, University College London, London, United Kingdom.
authors.forename: Michelle
authors.initials: M
authors.lastname: de Haan
authors.affiliation: Institute of Child Health, University College London, London, United Kingdom.
authors.forename: David H
authors.initials: DH
authors.lastname: Skuse
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D003071:Cognition; D000066499:Facial Recognition; D005239:Fear; D050172:Genes, X-Linked; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009483:Neuropsychological Tests; D020641:Polymorphism, Single Nucleotide; D011594:Psychometrics; D066107:Social Skills; D055815:Young Adult
chemical_list: D002135:Calcium-Binding Proteins; C521068:EFHC2 protein, human