2024-03-29T05:28:41Zhttps://repositori.uji.es/oai/requestoai:repositori.uji.es:10234/1685212024-02-08T10:45:33Zcom_10234_8033com_10234_9col_10234_8636
Repositori UJI
author
Prats, Claudia
author
Arias, Barbara
author
Moya-Higueras, Jorge
author
Pomarol Clotet, Edith
author
Parellada, Mara
author
González Pinto, Ana
author
Peralta, Víctor
author
Ibáñez, Manuel I
author
Martín, M.
author
Fañanás Saura, Lourdes
author
Fatjó-Vilas, Mar
2017-08-30T08:34:06Z
2017-08-30T08:34:06Z
2017-02
PRATS, Claudia; ARIAS SAMPÉRIZ, Bárbara; MOYA HIGUERAS, Jorge; POMAROL CLOTET, Edith; PARELLADA, Mara; GONZÁLEZ PINTO, Ana; PERALTA, Víctor; IBÁÑEZ RIBES, Manuel Ignacio; MARTÍN, M.; FAÑANÁS SAURA, Lourdes; FATJÓ-VILAS, Mar. Evidence of an epistatic effect between Dysbindin-1 and Neuritin-1 genes on the risk for schizophrenia spectrum disorders. European Psychiatry (2017), v. 40, p. 60-64
http://hdl.handle.net/10234/168521
https://doi.org/10.1016/j.eurpsy.2016.07.006
Background
The interest in studying gene–gene interactions is increasing for psychiatric diseases such as schizophrenia-spectrum disorders (SSD), where multiple genes are involved. Dysbindin-1 (DTNBP1) and Neuritin-1 (NRN1) genes have been previously associated with SSD and both are involved in synaptic plasticity. We aimed to study whether these genes show an epistatic effect on the risk for SSD.
Methods
The sample comprised 388 SSD patients and 397 healthy subjects. Interaction was tested between: (i) three DTNBP1 SNPs (rs2619537, rs2743864, rs1047631) related to changes in gene expression; and (ii) an haplotype in NRN1 previously associated with the risk for SSD (rs645649-rs582262: HAP-risk C-C).
Results
An interaction between DTNBP1 rs2743864 and NRN1 HAP-risk was detected by using the model based multifactor dimensionality reduction (MB-MDR) approach (P = 0.0049, after permutation procedure), meaning that the risk for SSD is significantly higher in those subjects carrying both the A allele of rs2743864 and the HAP-risk C-C. This interaction was confirmed by using a logistic regression model (P = 0.033, OR (95%CI) = 2.699 (1.08–6.71), R2 = 0.162).
Discussion
Our results suggest that DTNBP1 and NRN1 genes show a joint effect on the risk for SSD. Although the precise mechanism underlying this effect is unclear, the fact that these genes have been involved in synaptic maturation, connectivity and glutamate signalling suggests that our findings could be of value as a link to the schizophrenia aetiology.
eng
Schizophrenia-spectrum disorders (SSD)
Epistatic effect
DTNBP1
NRN1
Evidence of an epistatic effect between Dysbindin-1 and Neuritin-1 genes on the risk for schizophrenia spectrum disorders
info:eu-repo/semantics/article
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