Top

Journal of Autism and Developmental Disorders

Gepubliceerd in:

06-03-2020 | Original Paper

Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder

Auteurs: Yan Li, Shuang Qiu, Weijing Zhong, Yong Li, Yunkai Liu, Yi Cheng, Yawen Liu

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2020

Abstract

Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in DCC on the basis of a case–control study (231 ASD cases and 242 controls) in Chinese Han. We found that there was no association between ASD susceptibility and the seven SNPs in DCC; however, T–A haplotype (rs2229082–rs2270954), T–A–T–C haplotype (rs2229082–rs2270954–rs2292043–rs2292044), C–G–T–C–T haplotype (rs934345–rs17753970–rs2229082–rs2270954–rs2292043), C–G–T–C–T–G haplotype (rs934345–rs17753970–rs2229082–rs2270954–rs2292043–rs2292044), and G–G–T–C–C–C–C haplotype (rs934345–rs17753970–rs2229082–rs2270954–rs2292043–rs2292044–rs16956878) were associated with ASD susceptibility. Our results indicate that the haplotypes formed on the basis of the seven SNPs in DCC may be implicated in ASD.

vorige artikel Brief Report: Gender Differences in Experiences of Peer Victimization Among Adolescents with Autism Spectrum Disorder

volgende artikel Comment on “Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder”

Alleen toegankelijk voor geautoriseerde gebruikers

Bai, Y., Qiu, S., Li, Y., Li, Y., Zhong, W., Shi, M., et al. (2018). Genetic association between SHANK2 polymorphisms and susceptibility to autism spectrum disorder. IUBMB Life. https://doi.org/10.1002/iub.1876.CrossRefPubMedPubMedCentral

Bamias, A. T., Bai, M. C., Agnantis, N. J., Michael, M. C., Alamanos, Y. P., Stefanaki, S. V., et al. (2003). Prognostic significance of the deleted in colorectal cancer gene protein expression in high-risk resected gastric carcinoma. Cancer Investigation, 21(3), 333–340.CrossRef

Bergbaum, A., & Ogilvie, C. M. (2016). Autism and chromosome abnormalities—A review. Clinical Anatomy, 29(5), 620–627. https://doi.org/10.1002/ca.22719.CrossRefPubMed

Brudvig, J. J., Cain, J. T., Schmidt-Grimminger, G. G., Stumpo, D. J., Roux, K. J., Blackshear, P. J., et al. (2018). MARCKS is necessary for netrin-DCC signaling and corpus callosum formation. Molecular Neurobiology, 55(11), 8388–8402. https://doi.org/10.1007/s12035-018-0990-3.CrossRefPubMedPubMedCentral

Buescher, A. V., Cidav, Z., Knapp, M., & Mandell, D. S. (2014). Costs of autism spectrum disorders in the United Kingdom and the United States. JAMA Pediatrics, 168(8), 721–728. https://doi.org/10.1001/jamapediatrics.2014.210.CrossRefPubMed

Buxbaum, J. D., Bolshakova, N., Brownfeld, J. M., Anney, R. J., Bender, P., Bernier, R., et al. (2014). The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Molecular Autism, 5, 34. https://doi.org/10.1186/2040-2392-5-34.CrossRefPubMedPubMedCentral

Chen, X., Kuja-Halkola, R., Rahman, I., Arpegard, J., Viktorin, A., Karlsson, R., et al. (2015). Dominant genetic variation and missing heritability for human complex traits: Insights from twin versus genome-wide common SNP models. American Journal of Human Genetics, 97(5), 708–714. https://doi.org/10.1016/j.ajhg.2015.10.004.CrossRefPubMedPubMedCentral

Christensen, D. L., Baio, J., Van Naarden Braun, K., Bilder, D., Charles, J., Constantino, J. N., et al. (2016). Prevalence and characteristics of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 sites, United States, 2012. MMWR Surveillance Summaries, 65(3), 1–23. https://doi.org/10.15585/mmwr.ss6503a1.CrossRef

Codina-Sola, M., Rodriguez-Santiago, B., Homs, A., Santoyo, J., Rigau, M., Aznar-Lain, G., et al. (2015). Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. Molecular Autism, 6, 21. https://doi.org/10.1186/s13229-015-0017-0.CrossRefPubMedPubMedCentral

Geschwind, D. H. (2011). Genetics of autism spectrum disorders. Trends in Cognitive Sciences, 15(9), 409–416.CrossRef

Goel, R., Harsha, H. C., Pandey, A., & Prasad, T. S. (2012). Human protein reference database and human proteinpedia as resources for phosphoproteome analysis. Molecular BioSystems, 8(2), 453–463. https://doi.org/10.1039/c1mb05340j.CrossRefPubMed

Ho, K. Y., Kalle, W. H., Lo, T. H., Lam, W. Y., & Tang, C. M. (1999). Reduced expression of APC and DCC gene protein in breast cancer. Histopathology, 35(3), 249–256.CrossRef

Hoops, D., & Flores, C. (2017). Making dopamine connections in adolescence. Trends in Neurosciences, 40(12), 709–719. https://doi.org/10.1016/j.tins.2017.09.004.CrossRefPubMedPubMedCentral

Huang, Y., Boynton, R. F., Blount, P. L., Silverstein, R. J., Yin, J., Tong, Y., et al. (1992). Loss of heterozygosity involves multiple tumor suppressor genes in human esophageal cancers. Cancer Research, 52(23), 6525–6530.PubMed

Keino-Masu, K., Masu, M., Hinck, L., Leonardo, E. D., Chan, S. S., Culotti, J. G., et al. (1996). Deleted in colorectal cancer (DCC) encodes a netrin receptor. Cell, 87(2), 175–185.CrossRef

Kim, Y. S., Leventhal, B. L., Koh, Y. J., Fombonne, E., Laska, E., Lim, E. C., et al. (2011). Prevalence of autism spectrum disorders in a total population sample. American Journal of Psychiatry, 168(9), 904–912. https://doi.org/10.1176/appi.ajp.2011.10101532.CrossRefPubMed

Kohno, T., Sato, T., Takakura, S., Takei, K., Inoue, K., Nishioka, M., et al. (2000). Mutation and expression of the DCC gene in human lung cancer. Neoplasia, 2(4), 300–305.CrossRef

Meyer, N. J., Li, M., Feng, R., Bradfield, J., Gallop, R., Bellamy, S., et al. (2011). ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio. American Journal of Respiratory and Critical Care Medicine, 183(10), 1344–1353. https://doi.org/10.1164/rccm.201005-0701OC.CrossRefPubMedPubMedCentral

Neggers, Y. H. (2014). Increasing prevalence, changes in diagnostic criteria, and nutritional risk factors for autism spectrum disorders. ISRN Nutrition, 2014, 514026. https://doi.org/10.1155/2014/514026.CrossRefPubMedPubMedCentral

Nicole, W. (2019). Getting the lay of the land: human and animal evidence on environmental chemicals and autism. Environmental Health Perspectives, 127(9), 94002. https://doi.org/10.1289/ehp5674.CrossRefPubMed

Pontual, Y., Pacheco, V. S. S., Monteiro, S. P., Quintana, M. S. B., Costa, M. J. M., Rolla, V. C., et al. (2017). ABCB1 gene polymorphism associated with clinical factors can predict drug-resistant tuberculosis. Clinical Sciences (London), 131(15), 1831–1840. https://doi.org/10.1042/cs20170277.CrossRef

Purcell, S., Daly, M. J., & Sham, P. C. (2007). WHAP: haplotype-based association analysis. Bioinformatics, 23(2), 255–256. https://doi.org/10.1093/bioinformatics/btl580.CrossRefPubMed

Qi, Y., Yu, Y., Wu, Y., Wang, S., Yu, Q., Shi, J., et al. (2015). Genetic variants in six-transmembrane epithelial antigen of prostate 4 increase risk of developing metabolic syndrome in a han chinese population. Genetic Testing and Molecular Biomarkers, 19(12), 666–672. https://doi.org/10.1089/gtmb.2015.0104.CrossRefPubMedPubMedCentral

Qin, J., Jia, M., Wang, L., Lu, T., Ruan, Y., Liu, J., et al. (2009). Association study of SHANK3 gene polymorphisms with autism in Chinese Han population. BMC Medical Genetics, 10, 61. https://doi.org/10.1186/1471-2350-10-61.CrossRefPubMedPubMedCentral

Qiu, S., Li, Y., Li, Y., Zhong, W., Shi, M., Zhao, Q., et al. (2018). Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder. Gene. https://doi.org/10.1016/j.gene.2018.01.078.CrossRefPubMed

Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Medical Genetics, 6, 3. https://doi.org/10.1186/1471-2350-6-3.CrossRefPubMedPubMedCentral

Rothman, K. J. (1990). No adjustments are needed for multiple comparisons. Epidemiology, 1(1), 43–46.CrossRef

Saville, D. J. (1990). Multiple comparison procedures: The practical solution. American Statistician, 44(2), 174–180.

Schulten, H. J., Hussein, D., Al-Adwani, F., Karim, S., Al-Maghrabi, J., Al-Sharif, M., et al. (2016). Microarray expression data identify DCC as a candidate gene for early meningioma progression. PLoS ONE, 11(4), e0153681. https://doi.org/10.1371/journal.pone.0153681.CrossRefPubMedPubMedCentral

Shimo-onoda, K., Tanaka, T., Furushima, K., Nakajima, T., Toh, S., Harata, S., et al. (2002). Akaike's information criterion for a measure of linkage disequilibrium. Journal of Human Genetics, 47(12), 649–655. https://doi.org/10.1007/s100380200100.CrossRefPubMed

Sui, Y. V., Donaldson, J., Miles, L., Babb, J. S., Castellanos, F. X., & Lazar, M. (2018). Diffusional kurtosis imaging of the corpus callosum in autism. Molecular Autism, 9, 62. https://doi.org/10.1186/s13229-018-0245-1.CrossRefPubMedPubMedCentral

Templeton, A. R. (1995). A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping or DNA sequencing. V. Analysis of case/control sampling designs: Alzheimer's disease and the apoprotein E locus. Genetics, 140(1), 403.PubMedPubMedCentral

Vivanti, G., Prior, M., Williams, K., & Dissanayake, C. (2014). Predictors of outcomes in autism early intervention: why don't we know more? Frontiers in Pediatrics, 2, 58. https://doi.org/10.3389/fped.2014.00058.CrossRefPubMedPubMedCentral

Wang, L., Jia, M., Yue, W., Tang, F., Qu, M., Ruan, Y., et al. (2008). Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B(4), 434–438. https://doi.org/10.1002/ajmg.b.30623.CrossRef

Wang, J., Gong, J., Li, L., Chen, Y., Liu, L., Gu, H., et al. (2017). Neurexin gene family variants as risk factors for autism spectrum disorder. Autism Research. https://doi.org/10.1002/aur.1881.CrossRefPubMedPubMedCentral

Waye, M. M. Y., & Cheng, H. Y. (2017). Genetics and epigenetics of autism (review). Psychiatry and Clinical Neurosciences. https://doi.org/10.1111/pcn.12606.CrossRefPubMed

Weiss, J. A., Wingsiong, A., & Lunsky, Y. (2014). Defining crisis in families of individuals with autism spectrum disorders. Autism, 18(8), 985–995. https://doi.org/10.1177/1362361313508024.CrossRefPubMedPubMedCentral

Yuen, R. K. C., Merico, D., Bookman, M., Howe, J. L., Thiruvahindrapuram, B., Patel, R. V., et al. (2017). Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature Neuroscience, 20(4), 602–611. https://doi.org/10.1038/nn.4524.CrossRefPubMedCentral

Zare, S., Mashayekhi, F., & Bidabadi, E. (2017). The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population. Journal of Clinical Neuroscience, 39, 189–192. https://doi.org/10.1016/j.jocn.2017.01.008.CrossRefPubMed

Titel: Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder
Auteurs: Yan Li
Shuang Qiu
Weijing Zhong
Yong Li
Yunkai Liu
Yi Cheng
Yawen Liu
Publicatiedatum: 06-03-2020
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 10/2020
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-020-04417-3

Bohn Stafleu van Loghum

Deel dit onderdeel of sectie (kopieer de link)

Abstract

Log in om toegang te krijgen

Andere artikelen Uitgave 10/2020

What is the Prevalence of Self-harming and Suicidal Behaviour in Under 18s with ASD, With or Without an Intellectual Disability?

Unrelenting Depression and Suicidality in Women with Autistic Traits

Brief Report: Genetic Links Between Autism and Suicidal Behavior—A Preliminary Investigation

Advancing Our Understanding of Self-harm, Suicidal Thoughts and Behaviours in Autism

Suicidality in Adults with Autism Spectrum Disorder: The Role of Depressive Symptomatology, Alexithymia, and Antidepressants

Mental Health Clinicians’ Screening and Intervention Practices to Reduce Suicide Risk in Autistic Adolescents and Adults