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Record W1976754871 · doi:10.1097/mop.0b013e32832c6dce

Genetic regulation of adult stature

2009· review· en· W1976754871 on OpenAlexaff
Guillaume Lettre

Bibliographic record

VenueCurrent Opinion in Pediatrics · 2009
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMontreal Heart InstituteUniversité de Montréal
FundersWellcome Trust
KeywordsGeneticsGenetic associationMendelian inheritanceBiologySingle-nucleotide polymorphismGenome-wide association studyHeritabilityGenetic variationQuantitative trait locusPopulationEvolutionary biologyCandidate geneHuman genomeAlleleGeneShort statureGenomeMedicineGenotype

Abstract

fetched live from OpenAlex

PURPOSE OF REVIEW: Both environmental (e.g., nutrition) and genetic factors contribute to adult height variation in the general population. However, heritability studies have shown that most of the variation in height is genetically controlled. Although height, a classic polygenic trait, has been studied for more than 100 years, the genetic factors that influence its variation remained, prior to 2007, unknown. The identification of genes that regulate human height would greatly enhance our understanding of human growth and height-associated human syndromes. RECENT FINDINGS: Genome-wide association studies have become a powerful tool to identify genes that are associated with complex human diseases and traits. Recent large meta-analyses of genome-wide association studies for height have yielded 47 loci robustly associated with height variation. The effect of each of these height single nucleotide polymorphisms is small, yet in aggregate they can correctly assign individuals to the lower or upper tail of the height distribution. Interestingly, some of these height loci include genes that have been previously implicated by Mendelian genetics in tall or short stature syndromes, confirming the hypothesis that genes that cause syndromes can also harbor common alleles with a weaker effect on stature. Finally, the recent findings highlight biological pathways (e.g., hedgehog signaling, microRNA, chromatin structure) involved in human growth. SUMMARY: This review summarizes the recent progress made using genome-wide association studies on the identification of common genetic variants that contribute to adult height variation in the general population.

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)0.000
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 score0.970
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
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 head0.043
GPT teacher head0.366
Teacher spread0.322 · 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

Citations65
Published2009
Admission routes1
Has abstractyes

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