Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Genome-scale metabolic models predict diet- and lifestyle-driven shifts of ecological interactions in the gut microbiome.

Gut microbes·2026

Same author

Factors Associated With Disability Improvement and Worsening Independent of Attacks in Patients With AQP4-IgG+ NMOSD and MOGAD: A Multicenter Cohort Study.

Neurology·2026

Same author

Fasciculations Following COVID-19 Vaccination-A Case Series of Ten Patients.

Vaccines·2026

Same authorSame journal

Specific HLA-DRB1 Alleles Associate With Anti-Caspr1 and Anti-CNTN1 Autoantibodies in Autoimmune Nodopathies.

Neurology(R) neuroimmunology & neuroinflammation·2026

Same author

High-Affinity Human Germline and Mutated Autoantibodies Commonly Cross-React to Self-Antigens in 5 Subgroups of Autoimmune Encephalitis.

Neurology(R) neuroimmunology & neuroinflammation·2026

Same author

Clinical Spectrum of Anti-SEZ6L2 Syndrome: A Case Report With Brain Volumetry and Systematic Literature Review.

Neurology(R) neuroimmunology & neuroinflammation·2026

Same journal

Abnormal B-Cell Exosome Proapoptotic and Antiapoptotic Cargo in Multiple Sclerosis: Potential Implication in Progressive Disease Biology.

Neurology(R) neuroimmunology & neuroinflammation·2026

Same journal

Isolated Peripheral Nervous System Presentation in Ma/Ma2-Associated Autoimmunity.

Neurology(R) neuroimmunology & neuroinflammation·2026

Same journal

Immunity Gone Viral: Subacute Cognitive Decline With Multifocal Brain Lesions in Neuromyelitis Optica Spectrum Disorder.

Neurology(R) neuroimmunology & neuroinflammation·2026

Same journal

Immuno-Proteomic Features Associated to Relapse Risk in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.

Neurology(R) neuroimmunology & neuroinflammation·2026

Same journal

Prognostic Biomarker Signature of Relapse in Neuromyelitis Optica Spectrum Disorders in the CIRCLES Observational Study.

Neurology(R) neuroimmunology & neuroinflammation·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Oct 18, 2025

High-throughput Flow Cytometry Cell-based Assay to Detect Antibodies to N-Methyl-D-aspartate Receptor or Dopamine-2 Receptor in Human Serum

High-throughput Flow Cytometry Cell-based Assay to Detect Antibodies to N-Methyl-D-aspartate Receptor or Dopamine-2 Receptor in Human Serum

Published on: November 23, 2013

Genome-wide Association Study Identifies 2 New Loci Associated With Anti-NMDAR Encephalitis.

Anja K Tietz¹, Klemens Angstwurm¹, Tobias Baumgartner¹

¹From the Department of Neurology (A.K.T., F.L., G.K.), Kiel University; Department of Neurology (K.A.), University Hospital Regensburg; Department of Epileptiology (T.B.), University Hospital Bonn; Department of Neurology (K.D.), University Hospital Würzburg; Institute of Clinical Neuroimmunology (K.E.), Biomedical Center and University Hospital, Ludwig Maximilians University, Munich, Germany; Department of Neurology (M.E., H.M.), Charles University, Second Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Institute of Clinical Molecular Biology (A.F.), Kiel University; Department of Neurology (K.S.G.), University Hospital Münster; Department of Neurology (R.H.), Carl-Thiem-Klinikum Cottbus; Institute of Neuroimmunology and Multiple Sclerosis (INIMS) (Max Kaufmann), University Medical Center Hamburg-Eppendorf; Department of Neurology (Markus Kraemer), Alfried Krupp Hospital, Essen; Department of Neurology (Markus Kraemer, N.M.), Medical Faculty, Heinrich-Heine University Düsseldorf; Department of Neurology (A.K.), Martha-Maria Hospital Halle; Department of Neurology (J.L.), University of Ulm; Institute of Epidemiology (W.L.), Kiel University; Department of Neurology (M.M.), University Hospital Cologne; Department of Neurology and Clinical Neurophysiology (P.M.), Klinikum Weimar; Department of Neurology (T.P.), Klinikum Ingolstadt; Department of Neurology and Experimental Neurology (H.P.), Charité - Universitätsmedizin Berlin and German Center for Neurodegenerative Diseases (DZNE) Berlin; Department of Pediatric Neurology (K.R.), Children's Hospital Datteln, Witten/Herdecke University; Department of Neurology (M.S.), Asklepios Hospitals Schildautal, Seesen; Neuroimmunology (I.S., K.-P.W., F.L.), Institute of Clinical Chemistry, University Hospital Schleswig-Holstein, Kiel/Lübeck; Epilepsy Center Frankfurt Rhine-Main and Department of Neurology (K.S.), Unversity Hospital and Goethe Universiy Frankfurt; Department of Neurology (K.-W.S.), Hannover Medical School; and Section Translational Neuroimmunology (J.W.), Department of Neurology, University Hospital Jena, Germany.

Neurology(R) Neuroimmunology & Neuroinflammation

|September 29, 2021

Summary

This summary is machine-generated.

Genetic variants in LRRK1, ACP2, and NR1H3 genes are linked to anti-NMDA receptor encephalitis. This study identifies key genetic factors contributing to this autoimmune brain disorder.

More Related Videos

A Simple Cell-based Immunofluorescence Assay to Detect Autoantibody Against the N-Methyl-D-Aspartate NMDA Receptor in Blood

A Simple Cell-based Immunofluorescence Assay to Detect Autoantibody Against the N-Methyl-D-Aspartate NMDA Receptor in Blood

Published on: January 9, 2018

Hippocampal Neuronal Cultures to Detect and Study New Pathogenic Antibodies Involved in Autoimmune Encephalitis

Hippocampal Neuronal Cultures to Detect and Study New Pathogenic Antibodies Involved in Autoimmune Encephalitis

Published on: June 2, 2022

Related Experiment Videos

Last Updated: Oct 18, 2025

High-throughput Flow Cytometry Cell-based Assay to Detect Antibodies to N-Methyl-D-aspartate Receptor or Dopamine-2 Receptor in Human Serum

High-throughput Flow Cytometry Cell-based Assay to Detect Antibodies to N-Methyl-D-aspartate Receptor or Dopamine-2 Receptor in Human Serum

Published on: November 23, 2013

A Simple Cell-based Immunofluorescence Assay to Detect Autoantibody Against the N-Methyl-D-Aspartate NMDA Receptor in Blood

A Simple Cell-based Immunofluorescence Assay to Detect Autoantibody Against the N-Methyl-D-Aspartate NMDA Receptor in Blood

Published on: January 9, 2018

Hippocampal Neuronal Cultures to Detect and Study New Pathogenic Antibodies Involved in Autoimmune Encephalitis

Hippocampal Neuronal Cultures to Detect and Study New Pathogenic Antibodies Involved in Autoimmune Encephalitis

Published on: June 2, 2022

Area of Science:

Neuroimmunology
Genetics
Autoimmune Diseases

Background:

Anti-NMDA receptor (anti-NMDAR) encephalitis is a common antibody-mediated autoimmune encephalitis.
Understanding its genetic underpinnings is crucial for elucidating disease mechanisms.

Purpose of the Study:

To investigate the genetic determinants of anti-NMDAR encephalitis.
To identify specific genes contributing to the risk of developing this condition.

Main Methods:

Genome-wide association study (GWAS) in 178 anti-NMDAR encephalitis patients and 590 healthy controls.
Colocalization analysis with expression quantitative trait loci (eQTLs) to pinpoint causal genes.

Main Results:

Two independent risk loci with genome-wide significant variants were identified.
Key candidate genes include LRRK1, ACP2, NR1H3, MADD, DDB2, and C11orf49.
LRRK1 is involved in B-cell development, while NR1H3 (liver X receptor alpha) can inhibit inflammation.

Conclusions:

This research provides evidence for genetic factors outside the human leukocyte antigen (HLA) region influencing autoimmune encephalitis.
Larger studies are needed to identify additional genetic determinants and further understand the pathomechanism of anti-NMDAR encephalitis.