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Association of MGAT4C with major neurocognitive disorder in the Mexican population

dc.creatorBliskunova, Tatianaes_ES
dc.creatorGenis-Mendoza, Alma Deliaes_ES
dc.creatorMartínez-Magaña, José Jaimees_ES
dc.creatorVega-Sevey, Julissa Gabrielaes_ES
dc.creatorJiménez-Genchi, Janettes_ES
dc.creatorRoche, Andréses_ES
dc.creatorGuzmán, Rafaeles_ES
dc.creatorZapata, Leonores_ES
dc.creatorCastro-Chavira, Susanaes_ES
dc.creatorFernández, Thaliaes_ES
dc.creatorVillatoro-Velázquez, Jorge Amethes_ES
dc.creatorCamarena, Beatrizes_ES
dc.creatorFleiz-Bautista, Claraes_ES
dc.creatorBustos-Gamiño, Marycarmenes_ES
dc.creatorMedina-Mora, María Elenaes_ES
dc.creatorNicolini, Humbertoes_ES
dc.date2021
dc.date.accessioned2024-04-23T16:28:16Z
dc.date.available2024-04-23T16:28:16Z
dc.date.issued2021
dc.identifierJC76DIEP21es_ES
dc.identifier.issn0378-1119
dc.identifier.urihttp://repositorio.inprf.gob.mx/handle/123456789/7954
dc.identifier.urihttps://doi.org/10.1016/j.gene.2021.145484
dc.descriptionBackground: Neurocognitive disorders (NCDs) are characterized by cognitive decline. Most genetic studies of NCDs have been focused on single-nucleotide polymorphism; other genetic variations, such as copy number variants (CNV), have been less explored. The aim of the present study was to explore CNVs associated with NCDs in a small sample of Mexican individuals and search for the frequency in a larger replication sample of individuals at high-risk for or diagnosed with NCDs. Method: The exploratory analysis analyzed whole-genome CNVs associated with NCDs in 1335 individuals, of whom 35 were diagnosed with NCDs and 1300 were population-based controls. Whole-genome CNVs were derived from PsychArray and the PennCNV algorithm. The frequency of associated CNVs in a sample of 277 individuals diagnosed with NCDs and 70 high-risk individuals was then determined using RT-PCR. Results: The exploratory analysis identified one deletion associated with NCDs (p = 0.007) affecting the gene MGAT4C (Mannosyl (Alpha-1,3-)-Glycoprotein Beta-1,4-N-Acetylglucosaminyltransferase, Isozyme C). In the replication sample, a frequency of 3.97% was found in individuals diagnosed with NCDs and 1.43% in high-risk individuals. Conclusions: An association between a rare CNV on MGAT4C and cognitive impairment was found in this sample of the Mexican population. Nevertheless, studies with larger sample sizes are needed in order to further explore the association.es_ES
dc.formatPDFes_ES
dc.language.isoenges_ES
dc.publisherElsevieres_ES
dc.relation778:145484
dc.rightsAcceso Cerradoes_ES
dc.titleAssociation of MGAT4C with major neurocognitive disorder in the Mexican populationes_ES
dc.typeArtículoes_ES
dc.contributor.affiliationInstituto Nacional de Medicina Genómica, Laboratorio de Genómica de Enfermedades Psiquiátricas y Neurodegenerativas, Ciudad de México, Mexico
dc.contributor.emailadgenis@inmegen.gob.mx (A.D. Genis-Mendoza), hnicolini@inmegen.gob.mx (H. Nicolini)
dc.relation.jnabreviadoGENE
dc.relation.journalGene
dc.identifier.placePaíses Bajos
dc.date.published2021
dc.identifier.organizacionInstituto Nacional de Psiquiatría Ramón de la Fuente Muñiz
dc.identifier.eissn1879-0038
dc.identifier.doi10.1016/j.gene.2021.145484
dc.subject.kwCopy number variants
dc.subject.kwMGAT4C
dc.subject.kwNeurocognitive disorders
dc.subject.kwMexican populations
dc.subject.kwMxGDAR


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