TY - JOUR
T1 - Congenital prosopagnosia is associated with a genetic variation in the oxytocin receptor (OXTR) gene
T2 - An exploratory study
AU - Cattaneo, Zaira
AU - Daini, Roberta
AU - Malaspina, Manuela
AU - Manai, Federico
AU - Lillo, Mariarita
AU - Fermi, Valentina
AU - Schiavi, Susanna
AU - Suchan, Boris
AU - Comincini, Sergio
PY - 2016/12/17
Y1 - 2016/12/17
N2 - 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.
AB - 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.
KW - congenital prosopagnosia
KW - face blindness
KW - oxytocin receptor gene
UR - http://www.scopus.com/inward/record.url?scp=84992756760&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84992756760&partnerID=8YFLogxK
U2 - 10.1016/j.neuroscience.2016.09.040
DO - 10.1016/j.neuroscience.2016.09.040
M3 - Article
AN - SCOPUS:84992756760
VL - 339
SP - 162
EP - 173
JO - Neuroscience
JF - Neuroscience
SN - 0306-4522
ER -