Congenital prosopagnosia is associated with a genetic variation in the oxytocin receptor (OXTR) gene: An exploratory study.
Face-recognition deficits, referred to with the term prosopagnosia (i.e., face blindness), may manifest during development in the absence of any brain injury (from here the term congenital prosopagnosia, CP). It has been estimated that approximately 2.5% of the population is affected by face-processing deficits not depending on brain lesions, and varying a lot in severity. The genetic bases of this disorder are not known. In this study we tested for genetic association between single-nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR) and CP in a restricted cohort of Italian participants. We found evidence of an association between the common genetic variants rs53576 and rs2254298 OXTR SNPs and prosopagnosia. This association was also found when including an additional group of German individuals classified as prosopagnosic in the analysis. Our preliminary data provide initial support for the involvement of genetic variants of OXTR in a relevant cognitive impairment, whose genetic bases are still largely unexplored.
Department of Psychology, University of Milano-Bicocca, Milano, Italy; Brain Connectivity Center, C. Mondino National Neurological Institute, Pavia, Italy. Electronic address: zaira.cattaneo@unimib.it.
Zaira
Z
Cattaneo
Department of Psychology, University of Milano-Bicocca, Milano, Italy; Milan Center for Neuroscience (NeuroMI), Milano, Italy.
Roberta
R
Daini
Department of Psychology, University of Milano-Bicocca, Milano, Italy; Milan Center for Neuroscience (NeuroMI), Milano, Italy.
Manuela
M
Malaspina
Department of Biology and Biotechnology, University of Pavia, Pavia, Italy.
Federico
F
Manai
Department of Biology and Biotechnology, University of Pavia, Pavia, Italy.
Mariarita
M
Lillo
Department of Biology and Biotechnology, University of Pavia, Pavia, Italy.
Valentina
V
Fermi
Department of Psychology, University of Milano-Bicocca, Milano, Italy; Milan Center for Neuroscience (NeuroMI), Milano, Italy.
Susanna
S
Schiavi
Clinical Neuropsychology, Institute of Cognitive Neuroscience, Faculty of Psychology, Ruhr-University Bochum, Bochum, Germany.
Boris
B
Suchan
Department of Biology and Biotechnology, University of Pavia, Pavia, Italy. Electronic address: sergio.comincini@unipv.it.
Sergio
S
Comincini
D000293:Adolescent; D000328:Adult; D016000:Cluster Analysis; D015331:Cohort Studies; D000066499:Facial Recognition; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D005858:Germany; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D020641:Polymorphism, Single Nucleotide; D020238:Prosopagnosia / Q000145:classification / Q000151:congenital* / Q000235:genetics; D018045:Receptors, Oxytocin / Q000235:genetics*; D055815:Young Adult
C569600:OXTR protein, human; D018045:Receptors, Oxytocin
congenital prosopagnosia; face blindness; oxytocin receptor gene