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DOI10.1038/s41467-018-06260-8
Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder
Andrews, Shan V.1,2; Ellis, Shannon E.3; Bakulski, Kelly M.4; Sheppard, Brooke1,2; Croen, Lisa A.5; Hertz-Picciotto, Irva6,7; Newschaffer, Craig J.8,9; Feinberg, Andrew P.10,11; Arking, Dan E.2,3; Ladd-Acosta, Christine1,2,10; Fallin, M. Daniele2,10,12
2017-10-24
发表期刊NATURE COMMUNICATIONS
ISSN2041-1723
出版年2017
卷号8
文章类型Article
语种英语
国家USA
英文摘要

Integration of emerging epigenetic information with autism spectrum disorder (ASD) genetic results may elucidate functional insights not possible via either type of information in isolation. Here we use the genotype and DNA methylation (DNAm) data from cord blood and peripheral blood to identify SNPs associated with DNA methylation (meQTL lists). Additionally, we use publicly available fetal brain and lung meQTL lists to assess enrichment of ASD GWAS results for tissue-specific meQTLs. ASD-associated SNPs are enriched for fetal brain (OR = 3.55; P < 0.001) and peripheral blood meQTLs (OR = 1.58; P < 0.001). The CpG targets of ASD meQTLs across cord, blood, and brain tissues are enriched for immunerelated pathways, consistent with other expression and DNAm results in ASD, and reveal pathways not implicated by genetic findings. This joint analysis of genotype and DNAm demonstrates the potential of both brain and blood-based DNAm for insights into ASD and psychiatric phenotypes more broadly.


领域资源环境
收录类别SCI-E ; SSCI
WOS记录号WOS:000413565600001
WOS关键词DNA METHYLATION ; EXPRESSION DATA ; RISK ; MUTATIONS ; IDENTIFICATION ; BLOOD ; BRAIN ; LOCI ; CONVERGENCE ; ASSOCIATION
WOS类目Multidisciplinary Sciences
WOS研究方向Science & Technology - Other Topics
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文献类型期刊论文
条目标识符http://119.78.100.173/C666/handle/2XK7JSWQ/204029
专题资源环境科学
作者单位1.Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, 615N Wolfe St, Baltimore, MD 21205 USA;
2.Johns Hopkins Bloomberg Sch Publ Hlth, Wendy Klag Ctr Autism & Dev Disabil, 615 N Wolfe St, Baltimore, MD 21205 USA;
3.Johns Hopkins Sch Med, McKusick Nathans Inst Genet Med, 733 N Broadway, Baltimore, MD 21205 USA;
4.Univ Michigan, Dept Epidemiol, Sch Publ Hlth, 1415 Washington Hts, Ann Arbor, MI 48109 USA;
5.Kaiser Permanente Northern Calif, Div Res, 2000 Broadway, Oakland, CA 94612 USA;
6.Univ Calif Davis, Sch Med, Dept Publ Hlth Sci, 4610 X St, Sacramento, CA 95817 USA;
7.Univ Calif Davis, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA;
8.Drexel Univ, AJ Drexel Autism Inst, 3020 Market St 560, Philadelphia, PA 19104 USA;
9.Drexel Univ, Dornsife Sch Publ Hlth, Dept Epidemiol & Biostat, 3125 Market St, Philadelphia, PA 19104 USA;
10.Johns Hopkins Sch Med, Inst Basic Biomed Sci, Ctr Epigenet, 733 N Broadway, Baltimore, MD 21205 USA;
11.Johns Hopkins Sch Med, Dept Med, 733 N Broadway, Baltimore, MD 21205 USA;
12.Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, 624 N Broadway, Baltimore, MD 21205 USA
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GB/T 7714
Andrews, Shan V.,Ellis, Shannon E.,Bakulski, Kelly M.,et al. Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder[J]. NATURE COMMUNICATIONS,2017,8.
APA Andrews, Shan V..,Ellis, Shannon E..,Bakulski, Kelly M..,Sheppard, Brooke.,Croen, Lisa A..,...&Fallin, M. Daniele.(2017).Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder.NATURE COMMUNICATIONS,8.
MLA Andrews, Shan V.,et al."Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder".NATURE COMMUNICATIONS 8(2017).
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