Genetic Variation in

Black or African American / genetics Case-Control Studies Chromosomes, Human, Pair 1 Epilepsies, Partial / genetics Epilepsy, Generalized / genetics Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Polymorphism, Single Nucleotide Protein-Arginine Deiminase Type 4 / genetics Protein-Arginine Deiminase Type 6 / genetics White People / genetics
association study epilepsy human genetics

Journal

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

Informations de publication

Date de publication:
18 09 2021
Historique:
received: 11 08 2021
revised: 14 09 2021
accepted: 15 09 2021
entrez: 28 9 2021
pubmed: 29 9 2021
medline: 16 2 2022
Statut: epublish

Résumé

We performed a genome-wide association study (GWAS) to identify genetic variation associated with common forms of idiopathic generalized epilepsy (GE) and focal epilepsy (FE). Using a cohort of 2220 patients and 14,448 controls, we searched for single nucleotide polymorphisms (SNPs) associated with GE, FE and both forms combined. We did not find any SNPs that reached genome-wide statistical significance (

Identifiants

DOI: 10.3390/genes12091441 PMID: 34573423 PMC: PMC8472138
pubmed: 34573423
pii: genes12091441
doi: 10.3390/genes12091441
pmc: PMC8472138
pii:
doi:

Substances chimiques

PADI4 protein, human EC 3.5.3.15
PADI6 protein, human EC 3.5.3.15
Protein-Arginine Deiminase Type 4 EC 3.5.3.15
Protein-Arginine Deiminase Type 6 EC 3.5.3.15

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NINDS NIH HHS
ID : R01-NS49306-01
Pays : United States
Organisme : NINDS NIH HHS
ID : R01-NS064154-01
Pays : United States

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Auteurs

Russell J Buono (RJ)

Department of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, NJ 08103, USA.
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Department of Neurology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

Jonathan P Bradfield (JP)

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

Zhi Wei (Z)

Department of Computer Science, New Jersey Institute of Technology, Newark, NJ 07102, USA.

Michael R Sperling (MR)

Department of Neurology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

Dennis J Dlugos (DJ)

Department of Neurology and Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Michael D Privitera (MD)

Department of Neurology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.
ORCID: 0000-0002-0862-5975

Jacqueline A French (JA)

Department of Neurology, New York University, New York, NY 10016, USA.

Warren Lo (W)

Department of Neurology, Nationwide Children's Hospital, Columbus, OH 43205, USA.

Patrick Cossette (P)

Montreal University Health Center, University of Montreal, Montreal, QC H3C 3J7, Canada.

Steven C Schachter (SC)

Departments of Neurology, Massachusetts General Hospital, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02114, USA.

Heather Basehore (H)

Research Service, Coatesville Veteran's Affairs Medical Center, Coatesville, PA 19320, USA.

Falk W Lohoff (FW)

Section on Clinical Genomics and Experimental Therapeutics, NIAAA, NIH, Bethesda, MD 20892, USA.

Struan F A Grant (SFA)

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

Thomas N Ferraro (TN)

Department of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, NJ 08103, USA.

Hakon Hakonarson (H)

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

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Classifications MeSH

questionsmedicales.fr › Personnes › Nord-Américains › Groupes de population aux États-Unis › Populations d'origine continentale › Noir ou Africain Américain › Genetic Variation in
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Genetic Variation in
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes de mammifère › Chromosomes humains › Chromosomes humains 1-3 › Chromosomes humains de la paire 1 › Genetic Variation in
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Épilepsies partielles › Genetic Variation in
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Épilepsie généralisée › Genetic Variation in
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Genetic Variation in
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Genetic Variation in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic Variation in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Genetic Variation in
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Protein-arginine deiminases › Protein-arginine deiminase Type 4 › Genetic Variation in
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Protein-arginine deiminases › Protein-arginine deiminase Type 6 › Genetic Variation in
questionsmedicales.fr › Personnes › Blancs › Genetic Variation in