Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry.


Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
22 02 2021
Historique:
received: 23 11 2020
revised: 12 02 2021
accepted: 17 02 2021
entrez: 6 3 2021
pubmed: 7 3 2021
medline: 21 7 2021
Statut: epublish

Résumé

Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder with poorly understood molecular mechanisms that results in significant impairment in children. In this study, we sought to assess the role of rare recurrent variants in non-European populations and outside of coding regions. We generated whole genome sequence (WGS) data on 875 individuals, including 205 ADHD cases and 670 non-ADHD controls. The cases included 116 African Americans (AA) and 89 European Americans (EA), and the controls included 408 AA and 262 EA. Multiple novel rare recurrent variants were identified in exonic regions, functionally classified as stop-gains and frameshifts for known ADHD genes. Deletion in introns of the protocadherins families and the ncRNA

Identifiants

pubmed: 33671795
pii: genes12020310
doi: 10.3390/genes12020310
pmc: PMC7927037
pii:
doi:

Substances chimiques

RNA, Untranslated 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Références

Psychopharmacology (Berl). 2019 Oct;236(10):2937-2958
pubmed: 30737597
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Nucleic Acids Res. 2012 Jan;40(Database issue):D1003-9
pubmed: 22080511
Semin Cell Dev Biol. 2017 Sep;69:172-182
pubmed: 28694114
J Am Acad Child Adolesc Psychiatry. 2014 Jul;53(7):761-70.e26
pubmed: 24954825
Eur Child Adolesc Psychiatry. 2010 Mar;19(3):281-95
pubmed: 20148275
Nat Methods. 2010 Aug;7(8):575-6
pubmed: 20676075
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
J Neural Transm (Vienna). 2008 Nov;115(11):1573-85
pubmed: 18839057
Curr Protoc Bioinformatics. 2016 Jun 20;54:1.30.1-1.30.33
pubmed: 27322403
Nucleic Acids Res. 2003 Jul 1;31(13):3812-4
pubmed: 12824425
Hum Mutat. 2013 Jan;34(1):57-65
pubmed: 23033316
Nat Protoc. 2009;4(1):44-57
pubmed: 19131956
Cancer Res. 2017 Nov 1;77(21):e31-e34
pubmed: 29092934
Front Psychiatry. 2015 Jun 02;6:84
pubmed: 26082729
Nat Genet. 2011 Dec 04;44(1):78-84
pubmed: 22138692
Genome Res. 2009 Sep;19(9):1553-61
pubmed: 19602639
J Neurosci. 2012 Aug 22;32(34):11780-97
pubmed: 22915120
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Hum Mol Genet. 2010 Oct 15;19(R2):R131-6
pubmed: 20858594
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Sci Rep. 2020 Sep 17;10(1):15252
pubmed: 32943653
Ther Innov Regul Sci. 2015 Sep;49(5):632-642
pubmed: 26366330
Nat Biotechnol. 2008 Mar;26(3):256
pubmed: 18327223
Mol Psychiatry. 2012 Oct;17(10):960-87
pubmed: 22105624
Am J Psychiatry. 2012 Feb;169(2):186-94
pubmed: 22420046
Nat Commun. 2018 Jan 16;9(1):4
pubmed: 29339723
Hum Mol Genet. 2015 Apr 15;24(8):2125-37
pubmed: 25552646
Mol Psychiatry. 2012 Jun;17(6):624-33
pubmed: 22449891
Transl Psychiatry. 2012 Mar 13;2:e87
pubmed: 22832852
Pediatrics. 2013 Apr;131(4):637-44
pubmed: 23460687
Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1127-33
pubmed: 20607790
Nat Genet. 2012 Sep;44(9):1035-9
pubmed: 22842230
Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5
pubmed: 24234437
Am J Hum Genet. 2019 Sep 5;105(3):573-587
pubmed: 31447096
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Genet Med. 2004 Jan-Feb;6(1):1-15
pubmed: 14726804
Hum Mol Genet. 2015 Oct 15;24(R1):R102-10
pubmed: 26152199
Nature. 2013 Jan 10;493(7431):216-20
pubmed: 23201682
Bioinformatics. 2010 Mar 15;26(6):841-2
pubmed: 20110278
PLoS One. 2011;6(6):e20468
pubmed: 21674006
Neuroimage Clin. 2017 Sep 29;17:53-59
pubmed: 29527472
Front Cell Dev Biol. 2016 Aug 17;4:82
pubmed: 27583247
Genome Biol. 2007;8(11):R232
pubmed: 17976239

Auteurs

Yichuan Liu (Y)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Xiao Chang (X)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Hui-Qi Qu (HQ)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Lifeng Tian (L)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Joseph Glessner (J)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Jingchun Qu (J)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Dong Li (D)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Haijun Qiu (H)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Patrick Sleiman (P)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Division of Human Genetics, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Hakon Hakonarson (H)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Division of Human Genetics, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH