Evaluation of the Genetics of Bipolar Disorder

NCT00001174 | Active Not Recruiting

• 2 other identifiers: 80008380-M-0083
• Study Type: observational
• Target: 4,185
• Locations: 1 country
• Sites: 1

Brief Summary

This study looks to identify genes that may affect a person's chances of developing bipolar disorder (BP) and related conditions.

Conditions

Bipolar Disorder

Keywords

Affective Disorder; Depression; Genetic Polymorphisms; Major Depression; Genome-Wide Scan; Natural History; Panic Disorder; Bipolar Disorder

Outcome Measures

Primary Outcomes (1)

• Diagnosis of bipolar disorder or related mental illness by direct interview

  Psychiatric diagnosis is based on systematic review of established signs and symptoms, using an instrument designed to elicit retrospective information of known reliability, supplemented with information from family informants, any medical records, and by dimensional symptom measures.

  Diagnosis is established primarily at the initial study visit. Participants who consent to recontact are re-evaluated when they or family informants report events that could lead to a revised diagnosis.

Study Arms (2)

Healthy Volunteers

Healthy volunteers

Patients

Patients with bipolar disorder

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

community samples and clinical samples

You may qualify if:

• In order to be eligible to participate in this study, an individual must meet all of the following criteria:
• Stated willingness to comply with all study procedures and availability for the duration of the study.
• Male or female, aged 18 years and over. Children are excluded for the following reasons: age at onset of BD is usually later than age 18, the diagnostic and assessment instruments we use are not validated in children.
• In good general health as evidenced by medical history or diagnosed with or exhibiting symptoms of bipolar disorder or related conditions not attributable to substance abuse, or neurological disease; OR a 1st or 2nd degree relative of an enrolled participant. Related conditions are defined as those found more often among relatives of people with bipolar disorder or which have been shown to be genetically correlated with bipolar disorder through molecular genetic studies. These include major depression, schizophrenia, panic disorder, and attention deficit hyperactivity disorder.
• Ability to safely provide a blood or saliva sample.
• Ability of subject to understand and willingness to sign a written informed consent document.

You may not qualify if:

• An individual who meets any of the following criteria will be excluded from participation in this study:
• Active alcohol or substance abuse.
• Subjects who suffer cognitive impairment and are unable to provide an accurate psychiatric history are excluded since much of the diagnostic information relies on selfreport and recall of past events.

Sponsors & Collaborators

• National Institute of Mental Health (NIMH): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (5)

• Amare AT, Thalamuthu A, Schubert KO, Fullerton JM, Ahmed M, Hartmann S, Papiol S, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hou L, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Hasler R, Richard-Lepouriel H, Perroud N, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, Bengesser S, Biernacka JM, Birner A, Marie-Claire C, Cervantes P, Chen HC, Chillotti C, Cichon S, Cruceanu C, Czerski PM, Dalkner N, Del Zompo M, DePaulo JR, Etain B, Jamain S, Falkai P, Forstner AJ, Frisen L, Frye MA, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Fallgatter AJ, Stegmaier S, Ethofer T, Biere S, Petrova K, Schuster C, Adorjan K, Budde M, Heilbronner M, Kalman JL, Kohshour MO, Reich-Erkelenz D, Schaupp SK, Schulte EC, Senner F, Vogl T, Anghelescu IG, Arolt V, Dannlowski U, Dietrich D, Figge C, Jager M, Lang FU, Juckel G, Konrad C, Reimer J, Schmauss M, Schmitt A, Spitzer C, von Hagen M, Wiltfang J, Zimmermann J, Andlauer TFM, Fischer A, Bermpohl F, Ritter P, Matura S, Gryaznova A, Falkenberg I, Yildiz C, Kircher T, Schmidt J, Koch M, Gade K, Trost S, Haussleiter IS, Lambert M, Rohenkohl AC, Kraft V, Grof P, Hashimoto R, Hauser J, Herms S, Hoffmann P, Jimenez E, Kahn JP, Kassem L, Kuo PH, Kato T, Kelsoe J, Kittel-Schneider S, Ferensztajn-Rochowiak E, Konig B, Kusumi I, Laje G, Landen M, Lavebratt C, Leboyer M, Leckband SG, Tortorella A, Manchia M, Martinsson L, McCarthy MJ, McElroy S, Colom F, Millischer V, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Nothen MM, Novak T, O'Donovan C, Ozaki N, Pfennig A, Pisanu C, Potash JB, Reif A, Reininghaus E, Rouleau GA, Rybakowski JK, Schalling M, Schofield PR, Schweizer BW, Severino G, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Squassina A, Stamm T, Stopkova P, Maj M, Turecki G, Vieta E, Veeh J, Witt SH, Wright A, Zandi PP, Mitchell PB, Bauer M, Alda M, Rietschel M, McMahon FJ, Schulze TG, Clark SR, Baune BT. Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder. Mol Psychiatry. 2023 Dec;28(12):5251-5261. doi: 10.1038/s41380-023-02149-1. Epub 2023 Jul 11.

  PMID: 37433967 DERIVED

• Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Cearns M, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, Bengesser S, Biernacka JM, Birner A, Brichant-Petitjean C, Cervantes P, Chen HC, Chillotti C, Cichon S, Cruceanu C, Czerski PM, Dalkner N, Dayer A, Del Zompo M, DePaulo JR, Etain B, Jamain S, Falkai P, Forstner AJ, Frisen L, Frye MA, Fullerton JM, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Grof P, Hashimoto R, Hauser J, Herms S, Hoffmann P, Hofmann A, Jimenez E, Kahn JP, Kassem L, Kuo PH, Kato T, Kelsoe JR, Kittel-Schneider S, Kliwicki S, Konig B, Kusumi I, Laje G, Landen M, Lavebratt C, Leboyer M, Leckband SG, Tortorella A, Manchia M, Martinsson L, McCarthy MJ, McElroy SL, Colom F, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Nothen MM, Novak T, O'Donovan C, Ozaki N, Osby U, Pfennig A, Potash JB, Reif A; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Reininghaus E, Rouleau GA, Rybakowski JK, Schalling M, Schofield PR, Schweizer BW, Severino G, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Squassina A, Stamm T, Stopkova P, Maj M, Turecki G, Vieta E, Veeh J, Witt SH, Wright A, Zandi PP, Mitchell PB, Bauer M, Alda M, Rietschel M, McMahon FJ, Schulze TG, Baune BT. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Mol Psychiatry. 2021 Jun;26(6):2457-2470. doi: 10.1038/s41380-020-0689-5. Epub 2020 Mar 16.

  PMID: 32203155 DERIVED

• Pisanu C, Congiu D, Costa M, Chillotti C, Ardau R, Severino G, Angius A, Heilbronner U, Hou L, McMahon FJ, Schulze TG, Del Zompo M, Squassina A. Convergent analysis of genome-wide genotyping and transcriptomic data suggests association of zinc finger genes with lithium response in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2018 Oct;177(7):658-664. doi: 10.1002/ajmg.b.32663. Epub 2018 Oct 14.

  PMID: 30318722 DERIVED

• International Consortium on Lithium Genetics (ConLi+Gen); Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, Bengesser S, Biernacka JM, Birner A, Brichant-Petitjean C, Cervantes P, Chen HC, Chillotti C, Cichon S, Cruceanu C, Czerski PM, Dalkner N, Dayer A, Del Zompo M, DePaulo JR, Etain B, Falkai P, Forstner AJ, Frisen L, Frye MA, Fullerton JM, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Grof P, Hashimoto R, Hauser J, Herms S, Hoffmann P, Hofmann A, Jamain S, Jimenez E, Kahn JP, Kassem L, Kuo PH, Kato T, Kelsoe J, Kittel-Schneider S, Kliwicki S, Konig B, Kusumi I, Laje G, Landen M, Lavebratt C, Leboyer M, Leckband SG, Tortorella A, Manchia M, Martinsson L, McCarthy MJ, McElroy S, Colom F, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Nothen MM, Novak T, O'Donovan C, Ozaki N, Osby U, Pfennig A, Potash JB, Reif A, Reininghaus E, Rouleau GA, Rybakowski JK, Schalling M, Schofield PR, Schweizer BW, Severino G, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Squassina A, Stamm T, Stopkova P, Maj M, Turecki G, Vieta E, Volkert J, Witt S, Wright A, Zandi PP, Mitchell PB, Bauer M, Alda M, Rietschel M, McMahon FJ, Schulze TG, Baune BT. Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study. JAMA Psychiatry. 2018 Jan 1;75(1):65-74. doi: 10.1001/jamapsychiatry.2017.3433.

  PMID: 29121268 DERIVED

• Hou L, Heilbronner U, Degenhardt F, Adli M, Akiyama K, Akula N, Ardau R, Arias B, Backlund L, Banzato CEM, Benabarre A, Bengesser S, Bhattacharjee AK, Biernacka JM, Birner A, Brichant-Petitjean C, Bui ET, Cervantes P, Chen GB, Chen HC, Chillotti C, Cichon S, Clark SR, Colom F, Cousins DA, Cruceanu C, Czerski PM, Dantas CR, Dayer A, Etain B, Falkai P, Forstner AJ, Frisen L, Fullerton JM, Gard S, Garnham JS, Goes FS, Grof P, Gruber O, Hashimoto R, Hauser J, Herms S, Hoffmann P, Hofmann A, Jamain S, Jimenez E, Kahn JP, Kassem L, Kittel-Schneider S, Kliwicki S, Konig B, Kusumi I, Lackner N, Laje G, Landen M, Lavebratt C, Leboyer M, Leckband SG, Jaramillo CAL, MacQueen G, Manchia M, Martinsson L, Mattheisen M, McCarthy MJ, McElroy SL, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Nothen MM, Osby U, Ozaki N, Perlis RH, Pfennig A, Reich-Erkelenz D, Rouleau GA, Schofield PR, Schubert KO, Schweizer BW, Seemuller F, Severino G, Shekhtman T, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Smoller JW, Squassina A, Stamm T, Stopkova P, Tighe SK, Tortorella A, Turecki G, Volkert J, Witt S, Wright A, Young LT, Zandi PP, Potash JB, DePaulo JR, Bauer M, Reininghaus EZ, Novak T, Aubry JM, Maj M, Baune BT, Mitchell PB, Vieta E, Frye MA, Rybakowski JK, Kuo PH, Kato T, Grigoroiu-Serbanescu M, Reif A, Del Zompo M, Bellivier F, Schalling M, Wray NR, Kelsoe JR, Alda M, Rietschel M, McMahon FJ, Schulze TG. Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study. Lancet. 2016 Mar 12;387(10023):1085-1093. doi: 10.1016/S0140-6736(16)00143-4. Epub 2016 Jan 22.

  PMID: 26806518 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Bipolar Disorder; Mood Disorders; Depression; Depressive Disorder, Major; Panic Disorder

Condition Hierarchy (Ancestors)

Bipolar and Related Disorders; Mental Disorders; Behavioral Symptoms; Behavior; Depressive Disorder; Anxiety Disorders

Study Officials

• Francis J McMahon, M.D.

  National Institute of Mental Health (NIMH)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: August 11, 1994
• Last Updated: May 22, 2026

Record last verified: 2026-03-16

Locations

US (1)