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Sex- and age-specific genetic analysis of chronic back pain

2020· article· en· W3092267842 on OpenAlexafffund
Maxim B. Freidin, Yakov A. Tsepilov, Ian B. Stanaway, Weihua Meng, Caroline Hayward, Blair H. Smith, Samar Khoury, Marc Parisien, Andrey V. Bortsov, Luda Diatchenko, Sigrid Børte, Bendik S Winsvold, Ben Brumpton, John‐Anker Zwart, Yurii S. Aulchenko, Pradeep Suri, Frances M. K. Williams

Bibliographic record

VenuePain · 2020
Typearticle
Languageen
FieldMedicine
TopicMusculoskeletal pain and rehabilitation
Canadian institutionsMcGill University
FundersNational Institute of Dental and Craniofacial ResearchNational Heart, Lung, and Blood InstituteFaculty of Medicine and Health, University of SydneyEconomic and Social Research CouncilMedical Research CouncilFakultet for medisin og helsevitenskap, Norges Teknisk-Naturvitenskapelige UniversitetChief Scientist Office, Scottish Government Health and Social Care DirectorateUniversity at BuffaloNorwegian Institute of Public HealthNational Institutes of HealthHelse Midt-NorgeWellcome TrustCanada Excellence Research Chairs, Government of CanadaScottish Funding CouncilNorges ForskningsrådRussian Foundation for Basic ResearchUniversity College LondonScottish GovernmentNorges Teknisk-Naturvitenskapelige UniversitetJohns Hopkins University
KeywordsSingle-nucleotide polymorphismBiobankHeritabilityLocus (genetics)GeneticsSexual dimorphismSex characteristicsBiologyChronic painCorrelationMedicinePolymorphism (computer science)Internal medicineGeneGenotypePhysical therapy

Abstract

fetched live from OpenAlex

ABSTRACT: Sex differences for chronic back pain (cBP) have been reported, with females usually exhibiting greater morbidity, severity, and poorer response to treatment. Genetic factors acting in an age-specific manner have been implicated but never comprehensively explored. We performed sex- and age-stratified genome-wide association study and single nucleotide polymorphism-by-sex interaction analysis for cBP defined as "Back pain for 3+ months" in 202,077 males and 237,754 females of European ancestry from UK Biobank. Two and 7 nonoverlapping genome-wide significant loci were identified for males and females, respectively. A male-specific locus on chromosome 10 near SPOCK2 gene was replicated in 4 independent cohorts. Four loci demonstrated single nucleotide polymorphism-by-sex interaction, although none of them were formally replicated. Single nucleotide polymorphism-explained heritability was higher in females (0.079 vs 0.067, P = 0.006). There was a high, although not complete, genetic correlation between the sexes (r = 0.838 ± 0.041, different from 1 with P = 7.8E-05). Genetic correlation between the sexes for cBP decreased with age (0.858 ± 0.049 in younger people vs 0.544 ± 0.157 in older people; P = 4.3E-05). There was a stronger genetic correlation of cBP with self-reported diagnosis of intervertebral disk degeneration in males than in females (0.889 vs 0.638; P = 3.7E-06). Thus, the genetic component of cBP in the UK Biobank exhibits a mild sex- and age-dependency. This provides an insight into the possible causes of sex- and age-specificity in epidemiology and pathophysiology of cBP and chronic pain at other anatomical sites.

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)0.002
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.621
Threshold uncertainty score0.571

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
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 head0.017
GPT teacher head0.253
Teacher spread0.236 · 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

Citations40
Published2020
Admission routes2
Has abstractyes

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