RT info:eu-repo/semantics/article
T1 Polymorphisms in the oxytocin receptor and their association with apathy and impaired social cognition in Huntington’s disease
A1 Saiz Rodríguez, Miriam
A1 Gil Polo, Cecilia
A1 Diez Fairen, Mónica
A1 Martinez Horta, Saul Indra
A1 Sampedro Santalo, Frederic
A1 Calvo Simal, Sara
A1 Alonso García, Esther
A1 Riñones Mena, Esther
A1 Aguado, Laura
A1 Mariscal, Natividad
A1 Muñoz Siscart, Ignacio
A1 Piñeiro, Dolores
A1 Rivadeneyra, Jessica
A1 Cubo Delgado, Esther
K1 Huntington’s disease
K1 Oxytocin receptor
K1 Polymorphisms
K1 Enfermedad de Huntington
K1 Huntington's disease
AB Background Huntington’s disease (HD) is a neurodegenerative disorder characterized by cognitive, motor, and neuropsychiatricmanifestations. Oxytocin is a neuropeptide studied for its role as a neuromodulator regulating multiple behaviorslinked to social cognition. Genetic variation of oxytocin receptor (OXTR) might interact in the etiology and developmentof several impaired social behaviors. Our aim was to study OXTR polymorphisms and their relationship with apathy andsocial cognition in HD.Methods OXTR was sequenced in 21 cases and 22 controls. We assessed apathy, anxiety, depression, and irritability (HospitalAnxiety and Depression Scale-Snaith Irritability scale, HADS-SIS) and social cognition (Ekman 60 faces test), motorsymptoms and functionality with the total functional capacity (TFC), and the Unified HD rating Scale (UHDRS).Results We identified ten variants in OXTR. Three variants were classified as possibly damaging (p.Arg40Gly) or probablydamaging (p.Leu46Pro, p.Thr102Asn). Subjects carrying the wild-type genotype of the synonymous variant p.Val45 showeda significantly lower score in the HADS-SIS scale, related to lower irritability (p = 0.013). The only subject carrying theheterozygous genotype of the synonymous variant p.Leu62 showed a significantly higher score on Ekman scale, comparedto wild-type (p = 0.049); however, this finding was not confirmed after bootstrapping.Conclusion Variations in OXTR could have a relevant role in the correct development of social and cognitive functions.Future approaches will include the molecular study of p.Arg40Gly, p.Leu46Pro, and p.Thr102Asn to confirm their pathogenicity,as well as the validation of the influence of p.Val45 and p.Leu62 variants for their involvement in irritability andsocial cognition in HD.
PB Springer Nature
SN 1590-1874
YR 2022
FD 2022-06
LK https://hdl.handle.net/10259/12173
UL https://hdl.handle.net/10259/12173
LA eng
NO This project was partially funded by Gerencia Regionalde Salud de Castilla y León (GRS 1768/A/18). M.S.R. contract wassupported by Instituto de Salud Carlos III (ISCIII), Spanish Ministryof Science and Innovation, through the Sara Borrell Program(CD21/00022).
DS Repositorio Institucional de la Universidad de Burgos
RD 03-oct-2026