Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent
Bibliographic record
Abstract
Abstract To investigate the polygenicity of complex traits in populations of East Asian (EAS) and European (EUR) descents, we leveraged genome-wide data from Biobank Japan, UK Biobank, and FinnGen cohorts. Specifically, we analyzed up to 215 outcomes related to 18 health domains, assessing their polygenic architecture via descriptive statistics, such as the proportion of susceptibility SNPs per trait ( π c ). While we did not observe EAS–EUR differences in the overall distribution of polygenicity parameters across the phenotypes investigated, there were ancestry-specific patterns in the polygenicity differences between health domains. In EAS, pairwise comparisons across health domains showed enrichment for π c differences related to hematological and metabolic traits (hematological fold-enrichment = 4.45, p = 2.15 × 10 –7 ; metabolic fold-enrichment = 4.05, p = 4.01 × 10 –6 ). For both categories, the proportion of susceptibility SNPs was lower than that observed for several other health domains (EAS-hematological median π c = 0.15%, EAS-metabolic median π c = 0.18%) with the strongest π c difference with respect to respiratory traits (EAS-respiratory median π c = 0.50%; hematological- p = 2.26 × 10 –3 ; metabolic- p = 3.48 × 10 –3 ). In EUR, pairwise comparisons showed multiple π c differences related to the endocrine category (fold-enrichment = 5.83, p = 4.76 × 10 –6 ), where these traits showed a low proportion of susceptibility SNPs (EUR-endocrine median π c = 0.01%) with the strongest difference with respect to psychiatric phenotypes (EUR-psychiatric median π c = 0.50%; p = 1.19 × 10 –4 ). Simulating sample sizes of 1,000,000 and 5,000,000 individuals, we also showed that ancestry-specific polygenicity patterns translate into differences across health domains in the genetic variance explained by susceptibility SNPs projected to be genome-wide significant (e.g., EAS hematological-neoplasm p = 2.18 × 10 –4 ; EUR endocrine-gastrointestinal p = 6.80 × 10 –4 ). These findings highlight that traits related to the same health domains may present ancestry-specific variability in their polygenicity.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".