Distinct Co-methylation Patterns in African and European Populations and Their Genetic Associations
Bibliographic record
Abstract
Human populations have substantial genetic diversity, but the extent of epigenetic diversity remains unclear, as population-specific DNA methylation (DNAm) has only been studied for ∼ 3.0% of CpGs. In this study, we quantified DNAm using whole-genome bisulfite sequencing (WGBS) and analyzed it alongside whole-genome genotype data to provide a more comprehensive view of population-specific DNAm. Using a co-methylated region (CMR) approach, 36,657 CMRs were identified in WGBS data from 62 lymphoblastoid B-cell line (LCL) samples, with subsequent validation in a combined array dataset of 326 LCL samples. Between individuals of European and African ancestry, 101 CMRs exhibited population-specific DNAm patterns (Pop-CMRs), including 91 Pop-CMRs not reported in previous investigations. These regions spanned genes (e.g., CCDC42, GYPE, MAP3K20, and OBI1) related to diseases (e.g., malaria infection and diabetes) with differing prevalence and incidence between populations. Over half of the Pop-CMRs were associated with genetic variants, displaying population-specific allele frequencies and primarily mapped to genes involved in metabolic and infectious processes. Additionally, subsets of Pop-CMRs were applicable in East Asian populations and peripheral blood-based tissues. This study highlights genome-wide DNAm differences between populations and examines their associations with genetic varation and biological relevance, advancing our understanding of epigenetic contributions to population specificity.
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 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".