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Record W2105693845 · doi:10.1212/wnl.0b013e31824e8f1d

No consistent evidence for association between mtDNA variants and Alzheimer disease

2012· review· en· W2105693845 on OpenAlexaff
Gavin Hudson, Rebecca Sims, Denise Harold, Jade Chapman, Paul Hollingworth, Amy Gerrish, Gian Carlo Russo, Marian L. Hamshere, V. Moskvina, Nicola Jones, Charlene Thomas, Alexandra Stretton, Peter Holmans, Michael O‘Donovan, M J Owen, Julie Williams, Patrick F. Chinnery, Richard Abraham, Giancarlo Russo, Marian Hamshere, Jaspreet Singh Pahwa, Valentina Moskvina, Kimberley Dowzell, Amy L. Williams, Angharad R. Morgan, Simon Lovestone, John Powell, Petroula Proitsi, Michelle K. Lupton, Carol Brayne, David C. Rubinsztein, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Kevin Morgan, Kristelle Brown, Peter Passmore, David Craig, Bernadette McGuinness, Stephen Todd, Janet Johnston, Clive Holmes, David Mann, A. David Smith, Seth Love, Patrick G. Kehoe, John Hardy, Simon Mead, Nick C. Fox, Martin N. Rossor, John Collinge, Wolfgang Maier, Frank Jessen, Reiner Heun, Heike Kölsch, Britta Schürmann, Hendrik van den Bussche, Isabella Heuser, Johannes Kornhuber, Jens Wiltfang, Martin Dichgans, Lutz Frölich, Harald Hampel, Michael Hüll, Dan Rujescu, Alison Goate, John S.K. Kauwe, Carlos Cruchaga, Petra Nowotny, John C. Morris, Kevin H. Mayo, Gill Livingston, Nicholas Bass, Hugh Gurling, Andrew McQuillin, Rhian Gwilliam, Michael J. Owen

Bibliographic record

VenueNeurology · 2012
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMitochondrial Function and Pathology
Canadian institutionsTrinity College
FundersParkinson's UKNational Institute for Health and Care ResearchWellcome Trust
KeywordsMitochondrial DNADiseaseGenetic associationEtiologyBiologyGeneticsAlzheimer's diseaseCase-control studyGenetic variationMedicineGenotypeSingle-nucleotide polymorphismPathologyGene

Abstract

fetched live from OpenAlex

OBJECTIVE: Although several studies have described an association between Alzheimer disease (AD) and genetic variation of mitochondrial DNA (mtDNA), each has implicated different mtDNA variants, so the role of mtDNA in the etiology of AD remains uncertain. METHODS: We tested 138 mtDNA variants for association with AD in a powerful sample of 4,133 AD case patients and 1,602 matched controls from 3 Caucasian populations. Of the total population, 3,250 case patients and 1,221 elderly controls met the quality control criteria and were included in the analysis. RESULTS: In the largest study to date, we failed to replicate the published findings. Meta-analysis of the available data showed no evidence of an association with AD. CONCLUSION: The current evidence linking common mtDNA variations with AD is not compelling.

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 categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.966
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.000
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 head0.121
GPT teacher head0.350
Teacher spread0.229 · 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.

Study designNot applicable
Domainnot available
GenreReview

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

Citations53
Published2012
Admission routes1
Has abstractyes

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