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Journal of Autism and Developmental Disorders

Gepubliceerd in:

18-11-2022 | Original Paper

Single-locus and Haplotype Associations of GRIN2B Gene with Autism Spectrum Disorders and the Demographic and Clinical Characteristics of Patients in Guilan, Iran

Auteurs: Donya Pouyan Mehr, Niloofar Faraji, Sajjad Rezaei, Parvaneh Keshavarz

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 2/2024

Abstract

Autism spectrum disorders (ASDs) are described as generalized developmental disorders, with an average age of onset of 36 months. Genetic and environmental factors may contribute to this multifactorial disorder. The present study aimed to investigate the association of three GRIN2B polymorphisms, including rs1019385, rs1024893, and rs3764028, with ASDs. Based on the results, there was a significant difference regarding the genotype frequency of rs3764028 polymorphism between the control and case (ASD) groups (P = 0.027). According to the recessive model, this variant was associated with ASDs (P = 0.23). None of the eight haplotype models with frequencies above 0.5 showed significant differences between the case and control groups in terms of allelic frequency. The present results showed that the rs376028 variant was directly related to the phenotypic symptoms of ASDs.

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Chen, S., Xu, D., Fan, L., et al. (2022). Roles of N-Methyl-D-Aspartate Receptors (NMDARs) in Epilepsy.Front. Mol. Neurosci.14

Cordero, C., Windham, G. C., Schieve, L. A., et al. (2019). Maternal diabetes and hypertensive disorders in association with autism spectrum disorder. Autism Research, 12, 967–975. https://doi.org/10.1002/aur.2105.CrossRefPubMedPubMedCentral

Escher, J., Yan, W., Rissman, E. F., et al. (2021). Beyond Genes: Germline Disruption in the Etiology of Autism Spectrum Disorders. J Autism Dev Disord. https://doi.org/10.1007/s10803-021-05304-1

Eshraghi, A. A., Liu, G., Kay, S. I. S., et al. (2018). Epigenetics and Autism Spectrum Disorder: Is There a Correlation? Frontiers In Cellular Neuroscience, 12, 78. https://doi.org/10.3389/fncel.2018.00078.CrossRefPubMedPubMedCentral

Foley, D. L., Craig, J. M., Morley, R., et al. (2009). Prospects for Epigenetic Epidemiology. American Journal Of Epidemiology, 169, 389–400. https://doi.org/10.1093/aje/kwn380.CrossRefPubMedPubMedCentral

García-Alegría, A. M., Anduro-Corona, I., Pérez-Martínez, C. J., et al. (2020). Quantification of DNA through the NanoDrop Spectrophotometer: Methodological Validation Using Standard Reference Material and Sprague Dawley Rat and Human DNA. Int J Anal Chem 2020:8896738. https://doi.org/10.1155/2020/8896738

Garg, S., Lehtonen, A., Huson, S. M., et al. (2013). Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study. Dev Med Child Neurol, 55, 139–145. https://doi.org/10.1111/dmcn.12043.CrossRefPubMed

Ghirardi, L., Brikell, I., Kuja-Halkola, R., et al. (2018). The familial co-aggregation of ASD and ADHD: a register-based cohort study. Molecular Psychiatry, 23, 257–262. https://doi.org/10.1038/mp.2017.17.CrossRefPubMed

Hus, V., & Lord, C. (2014). The autism diagnostic observation schedule, module 4: revised algorithm and standardized severity scores. Journal Of Autism And Developmental Disorders, 44, 1996–2012. https://doi.org/10.1007/s10803-014-2080-3.CrossRefPubMedPubMedCentral

Jacob, S., Landeros-Weisenberger, A., & Leckman, J. F. (2009). Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics. Autism Res Off J Int Soc Autism Res, 2, 293–311. https://doi.org/10.1002/aur.108.CrossRef

Jiang, H., & Jia, J. (2009). Association between NR2B subunit gene (GRIN2B) promoter polymorphisms and sporadic Alzheimer’s disease in the North Chinese population. Neuroscience Letters, 450, 356–360. https://doi.org/10.1016/j.neulet.2008.10.075.CrossRefPubMed

Kim, K. C., Gonzales, E. L., Lazaro, M. T., et al. (2016). Clinical and neurobiological relevance of current animal models of autism spectrum disorders. Biomol Ther (Seoul), 24, 207.CrossRefPubMed

Kohlrausch, F. B., Giori, I. G., Melo-Felippe, F. B., et al. (2016). Association of GRIN2B gene polymorphism and Obsessive Compulsive disorder and symptom dimensions: A pilot study. Psychiatry Research, 243, 152–155. https://doi.org/10.1016/j.psychres.2016.06.027.CrossRefPubMed

Kong, A., Frigge, M. L., Masson, G., et al. (2012). Rate of de novo mutations and the importance of father’s age to disease risk. Nature, 488, 471–475. https://doi.org/10.1038/nature11396.CrossRefPubMedPubMedCentral

Kundu, G. K., & Islam, R. (2021). The Genetics of Autism Spectrum Disorder-A Review. J Bangladesh Coll Physicians Surg, 39, 193–199.CrossRef

Lee, P. Y., Costumbrado, J., Hsu, C. Y., & Kim, Y. H. (2012). Agarose gel electrophoresis for the separation of DNA fragments. Journal Of Visualized Experiments : Jove, 3923. https://doi.org/10.3791/3923.

Lichtenstein, P., Carlström, E., Råstam, M., et al. (2010). The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. American Journal Of Psychiatry, 167, 1357–1363.CrossRefPubMed

Lin, C. H., & Lane, H. Y. (2019). The Role of N-Methyl-D-Aspartate Receptor Neurotransmission and Precision Medicine in Behavioral and Psychological Symptoms of Dementia.Front. Pharmacol.10

Maccari, S., Darnaudery, M., Morley-Fletcher, S., et al. (2003). Prenatal stress and long-term consequences: implications of glucocorticoid hormones. Neuroscience And Biobehavioral Reviews, 27, 119–127. https://doi.org/10.1016/s0149-7634(03)00014-9.CrossRefPubMed

Manoli, D. S., & State, M. W. (2021). Autism Spectrum Disorder Genetics and the Search for Pathological Mechanisms. American Journal Of Psychiatry, 178, 30–38. https://doi.org/10.1176/appi.ajp.2020.20111608.CrossRefPubMed

Marcho, C., Oluwayiose, O. A., & Pilsner, J. R. (2020). The preconception environment and sperm epigenetics. Andrology, 8, 924–942. https://doi.org/10.1111/andr.12753.CrossRefPubMedPubMedCentral

Miller, D. N., Bryant, J. E., Madsen, E. L., & Ghiorse, W. C. (1999). Evaluation and optimization of DNA extraction and purification procedures for soil and sediment samples. Applied And Environment Microbiology, 65, 4715–4724. https://doi.org/10.1128/aem.65.11.4715-4724.1999.CrossRef

Miyatake, R., Furukawa, A., & Suwaki, H. (2002). Identification of a novel variant of the human NR2B gene promoter region and its possible association with schizophrenia. Molecular Psychiatry, 7, 1101–1106. https://doi.org/10.1038/sj.mp.4001152.CrossRefPubMed

Montgomery, J. M., Newton, B., & Smith, C. (2008). Test Review: Gilliam, J. (2006). GARS-2: Gilliam Autism Rating Scale’Second Edition. Austin, TX: PRO-ED. J Psychoeduc Assess 26:395–401. https://doi.org/10.1177/0734282908317116

Mori, F., Ribolsi, M., Kusayanagi, H., et al. (2011). Genetic variants of the NMDA receptor influence cortical excitability and plasticity in humans. Journal Of Neurophysiology, 106, 1637–1643. https://doi.org/10.1152/jn.00318.2011.CrossRefPubMed

Morisada, N., Ioroi, T., Taniguchi-Ikeda, M., et al. (2016). A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. Hum Genome Var, 3, 16029. https://doi.org/10.1038/hgv.2016.29.CrossRefPubMedPubMedCentral

O’Roak, B. J., Vives, L., Girirajan, S., et al. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485, 246–250. https://doi.org/10.1038/nature10989.CrossRefPubMedPubMedCentral

Ohtsuki, T., Sakurai, K., Dou, H., et al. (2001). Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia. Molecular Psychiatry, 6, 211–216.CrossRefPubMed

Pan, Y., Chen, J., Guo, H., et al. (2015). Association of genetic variants of GRIN2B with autism. Scientific Reports, 5, 1–5.

Rodriguez-Fontenla, C., & Carracedo, A. (2021). UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes. Transl Psychiatry, 11, 1–11.CrossRef

Rylaarsdam, L., & Guemez-Gamboa, A. (2019). Genetic Causes and Modifiers of Autism Spectrum Disorder. Frontiers In Cellular Neuroscience, 13, 385. https://doi.org/10.3389/fncel.2019.00385.CrossRefPubMedPubMedCentral

Seripa, D., Matera, M. G., Franceschi, M., et al. (2008). Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer’s disease. Dementia And Geriatric Cognitive Disorders, 25, 287–292. https://doi.org/10.1159/000118634.CrossRefPubMed

Takasaki, Y., Koide, T., Wang, C., et al. (2016). Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population. Scientific Reports, 6, 33311. https://doi.org/10.1038/srep33311.CrossRefPubMedPubMedCentral

Tarabeux, J., Kebir, O., Gauthier, J., et al. (2011). Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Transl Psychiatry, 1, e55. https://doi.org/10.1038/tp.2011.52.CrossRefPubMedPubMedCentral

Thapar, A., & Rutter, M. (2015). Using natural experiments and animal models to study causal hypotheses in relation to child mental health problems.Rutter’s Child Adolesc. Psychiatry143–162

Tzang, R. F., Chang, C. H., Chang, Y. C., & Lane, H. Y. (2019). Autism Associated With Anti-NMDAR Encephalitis: Glutamate-Related Therapy. Front psychiatry, 10, 440. https://doi.org/10.3389/fpsyt.2019.00440.CrossRefPubMedPubMedCentral

Voineagu, I. (2012). Gene expression studies in autism: moving from the genome to the transcriptome and beyond. Neurobiology Of Diseases, 45, 69–75. https://doi.org/10.1016/j.nbd.2011.07.017.CrossRef

Wyllie, D. J. A., Livesey, M. R., & Hardingham, G. E. (2013). Influence of GluN2 subunit identity on NMDA receptor function. Neuropharmacology, 74, 4–17. https://doi.org/10.1016/j.neuropharm.2013.01.016.CrossRefPubMedPubMedCentral

Yoo, H. J., Cho, I. H., Park, M., et al. (2012). Family based association of GRIN2A and GRIN2B with Korean autism spectrum disorders. Neuroscience Letters, 512, 89–93. https://doi.org/10.1016/j.neulet.2012.01.061.CrossRefPubMed

Titel: Single-locus and Haplotype Associations of GRIN2B Gene with Autism Spectrum Disorders and the Demographic and Clinical Characteristics of Patients in Guilan, Iran
Auteurs: Donya Pouyan Mehr
Niloofar Faraji
Sajjad Rezaei
Parvaneh Keshavarz
Publicatiedatum: 18-11-2022
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 2/2024
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-022-05818-2

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