Association of MGAT4C with major neurocognitive disorder in the Mexican population
| Autor: | Rafael Guzmán, Julissa Gabriela Vega-Sevey, Tatiana Bliskunova, Leonor Zapata, Susana A. Castro-Chavira, José Jaime Martínez-Magaña, Clara Fleiz-Bautista, Marycarmen Bustos-Gamiño, Jorge Ameth Villatoro-Velázquez, Alma Delia Genis-Mendoza, Thalía Fernández, Andrés Roche, María Elena Medina-Mora, Humberto Nicolini, Beatriz Camarena, Janett Jiménez-Genchi |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine DNA Copy Number Variations Population Neurocognitive Disorders Biology 03 medical and health sciences 0302 clinical medicine Polymorphism (computer science) Genetic variation Genetics Humans Genetic Predisposition to Disease Copy-number variation Cognitive decline Association (psychology) education Mexico Aged Aged 80 and over education.field_of_study General Medicine Middle Aged 030104 developmental biology Glucosyltransferases Sample size determination Case-Control Studies 030220 oncology & carcinogenesis Female Neurocognitive Genome-Wide Association Study Demography |
| Zdroj: | Gene. 778:145484 |
| ISSN: | 0378-1119 |
| Popis: | Background 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect