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Genetic variation and autism: A field synopsis and systematic meta-analysis

Genetic variation and autism: A field synopsis and systematic meta-analysis

Lee, Jinhee ORCID: 0000-0003-4255-1831, Son, Min Ji, Son, Chei Yun, Jeong, Gwang Hun, Lee, Keum Hwa ORCID: 0000-0002-1511-9587, Lee, Kwang Seob ORCID: 0000-0002-6286-108X, Ko, Younhee, Kim, Jong Yeob ORCID: 0000-0003-4756-9440, Lee, Jun Young ORCID: 0000-0001-8047-4190, Radua, Joaquim ORCID: 0000-0003-1240-5438, Eisenhut, Michael, Gressier, Florence, Koyanagi, Ai ORCID: 0000-0002-9565-5004, Stubbs, Brendon, Solmi, Marco, Rais, Theodor B., Kronbichler, Andreas ORCID: 0000-0002-2945-2946, Dragioti, Elena ORCID: 0000-0001-9019-4125, Vasconcelos, Daniel Fernando Pereira ORCID: 0000-0002-3331-452X, Silva, Felipe Rodolfo Pereira da ORCID: 0000-0001-9224-5571, Tizaoui, Kalthoum, Brunoni, André Russowsky, Carvalho, Andre F., Cargnin, Sarah ORCID: 0000-0001-6242-7817, Terrazzino, Salvatore ORCID: 0000-0002-4909-1121, Stickley, Andrew, Smith, Lee ORCID: 0000-0002-5340-9833, Thompson, Trevor ORCID: 0000-0001-9880-782X, Shin, Jae Il ORCID: 0000-0003-2326-1820 and Fusar-Poli, Paolo (2020) Genetic variation and autism: A field synopsis and systematic meta-analysis. Brain Sciences, 10 (10):692. ISSN 2076-3425 (Online) (doi:

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This study aimed to verify noteworthy findings between genetic risk factors and autism spectrum disorder (ASD) by employing the false positive report probability (FPRP) and the Bayesian false‐discovery probability (BFDP). PubMed and the Genome‐Wide Association Studies (GWAS) catalog were searched from inception to 1 August, 2019. We included meta‐analyses on genetic factors of ASD of any study design. Overall, twenty‐seven meta‐analyses articles from literature searches, and four manually added articles from the GWAS catalog were re‐analyzed. This showed that five of 31 comparisons for meta‐analyses of observational studies, 40 out of 203 comparisons for the GWAS meta‐analyses, and 18 out of 20 comparisons for the GWAS catalog, respectively, had noteworthy estimations under both Bayesian approaches. In this study, we found noteworthy genetic comparisons highly related to an increased risk of ASD. Multiple genetic comparisons were shown to be associated with ASD risk; however, genuine associations should be carefully verified and understood.

Item Type: Article
Additional Information: © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (
Uncontrolled Keywords: autism spectrum disorder; false positive report probability (FPRP); Bayesian false‐ discovery probability (BFDP); meta‐analysis; Genome‐Wide Association Studies (GWAS)
Subjects: B Philosophy. Psychology. Religion > BF Psychology
Faculty / School / Research Centre / Research Group: Faculty of Education, Health & Human Sciences
Faculty of Education, Health & Human Sciences > School of Human Sciences (HUM)
Last Modified: 03 Nov 2020 10:48

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