• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

基因变异与自闭症:领域概述及系统荟萃分析

Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis.

作者信息

Lee Jinhee, Son Min Ji, Son Chei Yun, Jeong Gwang Hun, Lee Keum Hwa, Lee Kwang Seob, Ko Younhee, Kim Jong Yeob, Lee Jun Young, Radua Joaquim, Eisenhut Michael, Gressier Florence, Koyanagi Ai, Stubbs Brendon, Solmi Marco, Rais Theodor B, Kronbichler Andreas, Dragioti Elena, Vasconcelos Daniel Fernando Pereira, Silva Felipe Rodolfo Pereira da, Tizaoui Kalthoum, Brunoni André Russowsky, Carvalho Andre F, Cargnin Sarah, Terrazzino Salvatore, Stickley Andrew, Smith Lee, Thompson Trevor, Shin Jae Il, Fusar-Poli Paolo

机构信息

Department of Psychiatry, Yonsei University Wonju College of Medicine, Wonju 26426, Korea.

Yonsei University College of Medicine, Seoul 03722, Korea.

出版信息

Brain Sci. 2020 Sep 30;10(10):692. doi: 10.3390/brainsci10100692.

DOI:10.3390/brainsci10100692
PMID:33007889
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7600188/
Abstract

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.

摘要

本研究旨在通过采用假阳性报告概率(FPRP)和贝叶斯假发现概率(BFDP)来验证遗传风险因素与自闭症谱系障碍(ASD)之间的显著发现。从数据库建立至2019年8月1日检索了PubMed和全基因组关联研究(GWAS)目录。我们纳入了任何研究设计的关于ASD遗传因素的荟萃分析。总体而言,对文献检索得到的27篇荟萃分析文章以及GWAS目录中手动添加的4篇文章进行了重新分析。结果显示,在两种贝叶斯方法下,观察性研究荟萃分析的31项比较中有5项、GWAS荟萃分析的203项比较中有40项以及GWAS目录的20项比较中有18项具有显著估计值。在本研究中,我们发现了与ASD风险增加高度相关的显著遗传比较。多项遗传比较显示与ASD风险相关;然而,真正的关联应仔细验证和理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9007/7600188/a69372f14132/brainsci-10-00692-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9007/7600188/156ab81a8c4f/brainsci-10-00692-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9007/7600188/a69372f14132/brainsci-10-00692-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9007/7600188/156ab81a8c4f/brainsci-10-00692-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9007/7600188/a69372f14132/brainsci-10-00692-g002.jpg

相似文献

1
Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis.基因变异与自闭症:领域概述及系统荟萃分析
Brain Sci. 2020 Sep 30;10(10):692. doi: 10.3390/brainsci10100692.
2
Bayesian statistical methods in genetic association studies: Empirical examination of statistically non-significant Genome Wide Association Study (GWAS) meta-analyses in cancers: A systematic review.贝叶斯统计学方法在遗传关联研究中的应用:对癌症中统计学上无显著意义的全基因组关联研究(GWAS)荟萃分析的实证检验:系统综述。
Gene. 2019 Feb 15;685:170-178. doi: 10.1016/j.gene.2018.10.057. Epub 2018 Oct 26.
3
Genetic variants in migraine: a field synopsis and systematic re-analysis of meta-analyses.偏头痛中的遗传变异:领域概述和荟萃分析的系统重新分析。
J Headache Pain. 2020 Feb 11;21(1):13. doi: 10.1186/s10194-020-01087-5.
4
Gene polymorphisms and risk of acute renal graft rejection: A field synopsis of meta-analyses and genome-wide association studies.基因多态性与急性肾移植排斥反应风险:荟萃分析和全基因组关联研究的领域综述
Transplant Rev (Orlando). 2020 Jul;34(3):100548. doi: 10.1016/j.trre.2020.100548. Epub 2020 May 11.
5
Genetic variation and systemic lupus erythematosus: A field synopsis and systematic meta-analysis.遗传变异与系统性红斑狼疮:领域综述与系统荟萃分析。
Autoimmun Rev. 2018 Jun;17(6):553-566. doi: 10.1016/j.autrev.2017.12.011. Epub 2018 Apr 7.
6
Genetic variations related to the prostate cancer risk: A field synopsis and revaluation by Bayesian approaches of genome-wide association studies.与前列腺癌风险相关的基因变异:全基因组关联研究的领域概述及贝叶斯方法的重新评估
Urol Oncol. 2025 Apr;43(4):270.e19-270.e28. doi: 10.1016/j.urolonc.2024.10.023. Epub 2024 Nov 26.
7
Individual and combined effects of GSTM1, GSTT1, and GSTP1 polymorphisms on lung cancer risk: A meta-analysis and re-analysis of systematic meta-analyses.个体和联合 GSTM1、GSTT1 和 GSTP1 多态性对肺癌风险的影响:系统荟萃分析的荟萃分析和再分析。
Medicine (Baltimore). 2021 Jul 2;100(26):e26104. doi: 10.1097/MD.0000000000026104.
8
Field Synopsis and Re-analysis of Systematic Meta-analyses of Genetic Association Studies in Multiple Sclerosis: a Bayesian Approach.对多发性硬化症中遗传关联研究的系统荟萃分析进行现场概述和再分析:贝叶斯方法。
Mol Neurobiol. 2018 Jul;55(7):5672-5688. doi: 10.1007/s12035-017-0773-2. Epub 2017 Oct 12.
9
Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review.抗中性粒细胞胞浆抗体相关性血管炎中的基因变异:贝叶斯方法与系统评价
J Clin Med. 2019 Feb 21;8(2):266. doi: 10.3390/jcm8020266.
10
Gene variations related to the hepatocellular carcinoma: Results from a field synopsis and Bayesian revaluation.与肝细胞癌相关的基因变异:现场综述和贝叶斯再评估的结果。
Gene. 2023 Jun 15;869:147392. doi: 10.1016/j.gene.2023.147392. Epub 2023 Mar 24.

引用本文的文献

1
KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies.仿冒混合分析框架:全基因组关联研究中 trio 设计和群体设计的混合分析框架。
Am J Hum Genet. 2024 Jul 11;111(7):1448-1461. doi: 10.1016/j.ajhg.2024.05.003. Epub 2024 May 30.
2
Amphiregulin normalizes altered circuit connectivity for social dominance of the CRTC3 knockout mouse. Amphiregulin 可使 CRTC3 敲除小鼠的社交优势相关异常回路连接正常化。
Mol Psychiatry. 2023 Nov;28(11):4655-4665. doi: 10.1038/s41380-023-02258-x. Epub 2023 Sep 20.
3
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.

本文引用的文献

1
Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort.五国队列中遗传和环境因素与自闭症的关联
JAMA Psychiatry. 2019 Oct 1;76(10):1035-1043. doi: 10.1001/jamapsychiatry.2019.1411.
2
Environmental risk factors and biomarkers for autism spectrum disorder: an umbrella review of the evidence.自闭症谱系障碍的环境风险因素和生物标志物:证据的综合评价
Lancet Psychiatry. 2019 Jul;6(7):590-600. doi: 10.1016/S2215-0366(19)30181-6.
3
Identification of common genetic risk variants for autism spectrum disorder.
仿冒 Trio:一种用于鉴定全基因组关联研究中 trio 设计中假定因果变体的仿冒框架。
Am J Hum Genet. 2022 Oct 6;109(10):1761-1776. doi: 10.1016/j.ajhg.2022.08.013. Epub 2022 Sep 22.
4
The Challenging Heterogeneity of Autism: Editorial for Brain Sciences Special Issue "Advances in Autism Research".自闭症的挑战性异质性:《脑科学》特刊“自闭症研究进展”的社论
Brain Sci. 2020 Dec 7;10(12):948. doi: 10.3390/brainsci10120948.
孤独症谱系障碍常见遗传风险变异的鉴定。
Nat Genet. 2019 Mar;51(3):431-444. doi: 10.1038/s41588-019-0344-8. Epub 2019 Feb 25.
4
Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium.CNTNAP2 多态性与自闭症的关联:中国汉族人群的基于家系的研究和结合精神疾病基因组学联盟 GWAS 数据的荟萃分析。
Autism Res. 2019 Apr;12(4):553-561. doi: 10.1002/aur.2078. Epub 2019 Jan 25.
5
Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder.GABRB3 基因多态性与孤独症谱系障碍易感性的荟萃分析。
J Mol Neurosci. 2018 Aug;65(4):432-437. doi: 10.1007/s12031-018-1114-2. Epub 2018 Jul 18.
6
Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD).GABA 受体多态性与自闭症谱系障碍(ASD)关联的荟萃分析。
J Mol Neurosci. 2018 May;65(1):1-9. doi: 10.1007/s12031-018-1073-7. Epub 2018 May 3.
7
Prevalence of Autism Spectrum Disorder Among US Children and Adolescents, 2014-2016.2014 - 2016年美国儿童和青少年自闭症谱系障碍患病率
JAMA. 2018 Jan 2;319(1):81-82. doi: 10.1001/jama.2017.17812.
8
Associations of endocrine stress-related gene polymorphisms with risk of autism spectrum disorders: Evidence from an integrated meta-analysis.内分泌应激相关基因多态性与自闭症谱系障碍风险的关联:来自综合荟萃分析的证据。
Autism Res. 2017 Nov;10(11):1722-1736. doi: 10.1002/aur.1822. Epub 2017 Jun 28.
9
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.对超过16000名自闭症谱系障碍患者进行全基因组关联研究的荟萃分析,发现了一个位于10q24.32的新基因座,且与精神分裂症存在显著重叠。
Mol Autism. 2017 May 22;8:21. doi: 10.1186/s13229-017-0137-9. eCollection 2017.
10
Meta-analyses of RELN variants in neuropsychiatric disorders.神经精神疾病中RELN基因变异的荟萃分析。
Behav Brain Res. 2017 Aug 14;332:110-119. doi: 10.1016/j.bbr.2017.05.028. Epub 2017 May 12.