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Record W2531146949 · doi:10.1097/gme.0000000000000741

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample

2016· article· en· W2531146949 on OpenAlexfundno aff
Louis R. Pasquale, Hugues Aschard, Jae H. Kang, Jessica N. Cooke Bailey, Sara Lindström, Daniel I. Chasman, William G. Christen, R. Rand Allingham, Allison E. Ashley‐Koch, Richard K. Lee, Sayoko E. Moroi, Murray H. Brilliant, Gadi Wollstein, Joel S. Schuman, John H. Fingert, Donald L. Budenz, Tony Realini, Terry Gaasterland, Douglas Gaasterland, William K. Scott, Kuldev Singh, Arthur J. Sit, Robert P. Igo, Yeunjoo E. Song, Lisa Hark, Robert Ritch, Douglas J. Rhee, Vikas Gulati, Shane Havens, Douglas Vollrath, Donald J. Zack, Felipe A. Medeiros, Robert N. Weinreb, Margaret A. Pericak‐Vance, Yutao Liu, Peter Kraft, Julia E. Richards, Bernard Rosner, Michael A. Hauser, Jonathan L. Haines, Janey L. Wiggs

Bibliographic record

VenueMenopause The Journal of The North American Menopause Society · 2016
Typearticle
Languageen
FieldMedicine
TopicGlaucoma and retinal disorders
Canadian institutionsnot available
FundersNational Eye InstituteNational Center for Advancing Translational SciencesNational Human Genome Research InstituteAllerganNational Institutes of HealthHeidelberg EngineeringAerie PharmaceuticalsAlimera SciencesSantenRegeneron PharmaceuticalsAmerican Health Assistance FoundationSanofiValeant Pharmaceuticals InternationalGenentechNational Cancer InstituteGlaucoma Foundation
KeywordsMedicineConfidence intervalOdds ratioPercentileGlaucomaOpen angle glaucomaDemographyGenome-wide association studyInternal medicineOphthalmologyGynecologyGenotypeSingle-nucleotide polymorphismGeneticsStatisticsGene

Abstract

fetched live from OpenAlex

OBJECTIVE: Several attributes of female reproductive history, including age at natural menopause (ANM), have been related to primary open-angle glaucoma (POAG). We assembled 18 previously reported common genetic variants that predict ANM to determine their association with ANM or POAG. METHODS: Using data from the Nurses' Health Study (7,143 women), we validated the ANM weighted genetic risk score in relation to self-reported ANM. Subsequently, to assess the relation with POAG, we used data from 2,160 female POAG cases and 29,110 controls in the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database (NEIGHBORHOOD), which consists of 8 datasets with imputed genotypes to 5.6+ million markers. Associations with POAG were assessed in each dataset, and site-specific results were meta-analyzed using the inverse weighted variance method. RESULTS: The genetic risk score was associated with self-reported ANM (P = 2.2 × 10) and predicted 4.8% of the variance in ANM. The ANM genetic risk score was not associated with POAG (Odds Ratio (OR) = 1.002; 95% Confidence Interval (CI): 0.998, 1.007; P = 0.28). No single genetic variant in the panel achieved nominal association with POAG (P ≥0.20). Compared to the middle 80 percent, there was also no association with the lowest 10 percentile or highest 90 percentile of genetic risk score with POAG (OR = 0.75; 95% CI: 0.47, 1.21; P = 0.23 and OR = 1.10; 95% CI: 0.72, 1.69; P = 0.65, respectively). CONCLUSIONS: A genetic risk score predicting 4.8% of ANM variation was not related to POAG; thus, genetic determinants of ANM are unlikely to explain the previously reported association between the two phenotypes.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.011
Threshold uncertainty score0.022

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.004
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.009
GPT teacher head0.243
Teacher spread0.234 · 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 source (direct Gemma or distilled Codex), 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

Citations8
Published2016
Admission routes1
Has abstractyes

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