Characterizing genetic pathways unique to autism spectrum disorder at multiple levels of biological analysis

Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE, et al. The epidemiology of autism spectrum disorders. Annu Rev Public Health. 2007;28:235–58.

Article  PubMed  Google Scholar 

Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, et al. Identification of common genetic risk variants for autism spectrum disorder. Nat Genet. 2019;51:431–44.

Article  CAS  PubMed  PubMed Central  Google Scholar 

American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). https://doi.org/10.1176/appi.books.9780890425596

Tick B, Bolton P, Happé F, Rutter M, Rijsdijk F. Heritability of autism spectrum disorders: a meta-analysis of twin studies. J Child Psychol Psychiatry. 2016;57:585–95.

Article  PubMed  Google Scholar 

Sandin S, Lichtenstein P, Kuja-Halkola R, Hultman C, Larsson H, Reichenberg A. The heritability of Autism Spectrum Disorder. JAMA. 2017;318:1182–4.

Article  PubMed  PubMed Central  Google Scholar 

Xie S, Karlsson H, Dalman C, Widman L, Rai D, Gardner RM, et al. The familial risk of Autism Spectrum disorder with and without intellectual disability. Autism Res. 2020;13:2242–50.

Article  PubMed  PubMed Central  Google Scholar 

Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for autism resides with common variation. Nat Genet. 2014;46:881–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khachadourian V, Mahjani B, Sandin S, Kolevzon A, Buxbaum JD, Reichenberg A, et al. Comorbidities in autism spectrum disorder and their etiologies. Transl Psychiatry. 2023;13:71.

Article  PubMed  PubMed Central  Google Scholar 

Stevens T, Peng L, Barnard-Brak L. The comorbidity of ADHD in children diagnosed with autism spectrum disorder. Res Autism Spectr Disord. 2016;31:11–8.

Article  Google Scholar 

Ronald A, Larsson H, Anckarsäter H, Lichtenstein P. Symptoms of autism and ADHD: a Swedish twin study examining their overlap. J Abnorm Psychol. 2014;123:440–51.

Article  PubMed  Google Scholar 

Peyre H, Schoeler T, Liu C, Williams CM, Hoertel N, Havdahl A, et al. Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder. J Child Psychol Psychiatry. 2021;62:1285–96.

Article  PubMed  Google Scholar 

Ghirardi L, Brikell I, Kuja-Halkola R, Freitag CM, Franke B, Asherson P, et al. The familial co-aggregation of ASD and ADHD: a register-based cohort study. Mol Psychiatry. 2018;23:257–62.

Article  CAS  PubMed  Google Scholar 

Reiersen AM, Constantino JN, Grimmer M, Martin NG, Todd RD. Evidence for shared genetic influences on self-reported ADHD and autistic symptoms in young adult Australian twins. Twin Res Hum Genet. 2008;11:579–85.

Article  PubMed  PubMed Central  Google Scholar 

Ronald A, Simonoff E, Kuntsi J, Asherson P, Plomin R. Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample. J Child Psychol Psychiatry. 2008;49:535–42.

Article  PubMed  Google Scholar 

Rajagopal VM, Duan J, Vilar-Ribó L, Grove J, Zayats T, Ramos-Quiroga JA, et al. Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder. Nat Genet. 2022;54:1117–24.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Grotzinger AD, Rhemtulla M, de Vlaming R, Ritchie SJ, Mallard TT, Hill WD, et al. Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits. Nat Hum Behav. 2019;3:513–25.

Article  PubMed  PubMed Central  Google Scholar 

Grotzinger AD, Mallard TT, Akingbuwa WA, Ip HF, Adams MJ, Lewis CM, et al. Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis. Nat Genet. 2022;54:548–59.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Grotzinger AD, Singh K, Miller-Fleming TW, Lam M, Mallard TT, Chen Y, et al. Transcriptome-wide structural equation modeling of 13 Major Psychiatric disorders for Cross-disorder Risk and Drug Repurposing. JAMA Psychiatry. 2023;80:811–21.

Article  PubMed  PubMed Central  Google Scholar 

Breunig S, Lawrence JM, Foote IF, Gebhardt HJ, Willcutt EG, Grotzinger AD. Examining differences in the Genetic and Functional Architecture of Attention-Deficit/Hyperactivity disorder diagnosed in Childhood and Adulthood. Biol Psychiatry Glob Open Sci. 2024;4:100307.

Article  PubMed  PubMed Central  Google Scholar 

Bulik-Sullivan B, Finucane HK, Anttila V, Gusev A, Day FR, Loh P-R, et al. An atlas of genetic correlations across human diseases and traits. Nat Genet. 2015;47:1236–41.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Grotzinger AD, Fuente J, de la, Privé F, Nivard MG, Tucker-Drob EM. Pervasive Downward Bias in estimates of liability-scale heritability in genome-wide Association Study Meta-analysis: a simple solution. Biol Psychiatry. 2023;93:29–36.

Article  CAS  PubMed  Google Scholar 

Peyrot WJ, Robinson MR, Penninx BWJH, Wray NR. Exploring boundaries for the genetic consequences of assortative mating for Psychiatric traits. JAMA Psychiatry. 2016;73:1189–95.

Article  PubMed  Google Scholar 

Belsare S, Levy-Sakin M, Mostovoy Y, Durinck S, Chaudhuri S, Xiao M, et al. Evaluating the quality of the 1000 genomes project data. BMC Genomics. 2019;20:620.

Article  PubMed  PubMed Central  Google Scholar 

Pers TH, Karjalainen JM, Chan Y, Westra H-J, Wood AR, Yang J, et al. Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun. 2015;6:5890.

Article  CAS  PubMed  Google Scholar 

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581:434–43.

Article  CAS  PubMed  PubMed Central  Google Scholar 

GTEx Consortium. Human genomics. The genotype-tissue expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science. 2015;348:648–60.

Article  PubMed Central  Google Scholar 

Roadmap Epigenomics Consortium, Kundaje A, Meuleman W, Ernst J, Bilenky M, Yen A, et al. Integrative analysis of 111 reference human epigenomes. Nature. 2015;518:317–30.

Article  PubMed Central  Google Scholar 

Gusev A, Ko A, Shi H, Bhatia G, Chung W, Penninx BWJH, et al. Integrative approaches for large-scale transcriptome-wide association studies. Nat Genet. 2016;48:245–52.

Article  CAS  PubMed  PubMed Central  Google Scholar 

GTEx Consortium. The genotype-tissue expression (GTEx) project. Nat Genet. 2013;45:580–5.

Article  Google Scholar 

Hoffman GE, Bendl J, Voloudakis G, Montgomery KS, Sloofman L, Wang Y-C, et al. CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder. Sci Data. 2019;6:180.

Article  PubMed  PubMed Central  Google Scholar 

Gandal MJ, Zhang P, Hadjimichael E, Walker RL, Chen C, Liu S et al. Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder. Science. 2018;362. https://doi.org/10.1126/science.aat8127

Liao Y, Wang J, Jaehnig EJ, Shi Z, Zhang B. WebGestalt 2019: gene set analysis toolkit with revamped UIs and APIs. Nucleic Acids Res. 2019;47:W199–205.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kortte KB, Horner MD, Windham WK. The trail making test, part B: cognitive flexibility or ability to maintain set? Appl Neuropsychol. 2002;9:106–9.

Article 

Comments (0)

No login
gif