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Further evidence for linkage of bipolar disorder to chromosomes 6 and 17 in a new independent pedigree series

2012· article· en· W2095821536 on OpenAlexaff
Tiffany A. Greenwood, Caroline M. Nievergelt, A. Dessa Sadovnick, Ronald A. Remick, Paul E. Keck, Susan L. McElroy, Tatyana Shekhtman, R. Anne McKinney, John R. Kelsoe

Bibliographic record

VenueBipolar Disorders · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsSt. Paul's HospitalUniversity of British Columbia
FundersNational Center for Research ResourcesNational Institute of Mental HealthNovartis PharmaNational Institutes of HealthNovartisU.S. Department of Veterans Affairs
KeywordsLinkage (software)Bipolar disorderPedigree chartGenetic linkageGeneticsProbandLod scoreReplication (statistics)BiologyPsychologyPsychiatryChromosomeGene mappingGeneMutationMood

Abstract

fetched live from OpenAlex

Greenwood TA, Nievergelt CM, Sadovnick AD, Remick RA, Keck PE Jr, McElroy SL, Shekhtman T, McKinney R, Kelsoe JR. Further evidence for linkage of bipolar disorder to chromosomes 6 and 17 in a new independent pedigree series. Bipolar Disord 2012: 14: 71–79. © 2012 The Authors. Journal compilation © 2012 John Wiley & Sons A/S. Objectives: We have previously reported the results of a linkage analysis of bipolar disorder in an initial set of 20 pedigrees ascertained through collaboration among three sites. We now report the results of our genome‐wide linkage analysis in an independent sample of 34 pedigrees segregating bipolar disorder. Methods: Families were ascertained through a bipolar I or II disorder proband for the presence of bipolar I disorder, bipolar II disorder, or recurrent major depression in at least two other family members. A total of 440 markers at an average spacing of 8 cM were genotyped in 229 family members using fluorescent methods. Results: Initial nonparametric analyses of chromosomes 6 and 17 provided evidence for a modest replication of linkage to these chromosomes previously reported in other studies. Additional analyses using multipoint parametric methods provided further evidence to support the 6q25 region with a heterogeneity logarithm of odds score of 3.28. Evidence from two‐point parametric analyses also provides a modest replication of our previous findings of linkage to the 23 cM region of chromosome 22q13 in our original University of California, San Diego sample of 20 families and 57 families from the National Institute of Mental Health bipolar disorder sample. Conclusions: Our results suggest replication of some reported linkage peaks, such as 6q25 and 17p12; however, other peaks from our own previous study, such as 5p15, 13q32, and 22q13, were either not replicated or were only modestly replicated in these analyses.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.319
Threshold uncertainty score0.575

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.022
GPT teacher head0.292
Teacher spread0.270 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations7
Published2012
Admission routes1
Has abstractyes

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