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Record W1764553207 · doi:10.1186/s13072-015-0035-3

Characterization of whole-genome autosomal differences of DNA methylation between men and women

2015· article· en· W1764553207 on OpenAlexfundno aff
Paula Singmann, Doron Shem‐Tov, Simone Wahl, Harald Grallert, Giovanni Fiorito, So-Youn Shin, Katharina Schramm, Petra Wolf, Sonja Kunze, Yael Baran, Simonetta Guarrera, Paolo Vineis, Vittorio Krogh, Salvatore Panico, ­Rosario ­Tumino, Anja Kretschmer, Christian Gieger, Annette Peters, Holger Prokisch, Caroline L. Relton, Giuseppe Matullo, Thomas Illig, Mélanie Waldenberger, Eran Halperin

Bibliographic record

VenueEpigenetics & Chromatin · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEpigenetics and DNA Methylation
Canadian institutionsnot available
FundersMünchner Zentrum für GesundheitswissenschaftenSeventh Framework ProgrammeWellcome TrustBiotechnology and Biological Sciences Research CouncilHuman Genetics Foundation-TorinoMedical Research CouncilDirectorate for Biological SciencesUnited States - Israel Binational Science FoundationHelmholtz Zentrum MünchenBundesministerium für Bildung und ForschungPanel on Research EthicsIsrael Science FoundationBundesministerium für GesundheitBusiness Events PerthUnited States-Israel Binational Science FoundationUniversity of BristolTel Aviv UniversityEuropean CommissionCompagnia di San PaoloAssociazione Italiana per la Ricerca sul CancroNational Science FoundationOak FoundationWellcomeDepartment of Science and Technology, Ministry of Science and Technology, IndiaGerman-Israeli Foundation for Scientific Research and Development
KeywordsBiologyDNA methylationEpigenomeCpG siteEpigeneticsGeneticsAutosomeHuman geneticsGeneEvolutionary biologyX chromosomeGene expression

Abstract

fetched live from OpenAlex

BACKGROUND: Disease risk and incidence between males and females reveal differences, and sex is an important component of any investigation of the determinants of phenotypes or disease etiology. Further striking differences between men and women are known, for instance, at the metabolic level. The extent to which men and women vary at the level of the epigenome, however, is not well documented. DNA methylation is the best known epigenetic mechanism to date. RESULTS: In order to shed light on epigenetic differences, we compared autosomal DNA methylation levels between men and women in blood in a large prospective European cohort of 1799 subjects, and replicated our findings in three independent European cohorts. We identified and validated 1184 CpG sites to be differentially methylated between men and women and observed that these CpG sites were distributed across all autosomes. We showed that some of the differentially methylated loci also exhibit differential gene expression between men and women. Finally, we found that the differentially methylated loci are enriched among imprinted genes, and that their genomic location in the genome is concentrated in CpG island shores. CONCLUSION: Our epigenome-wide association study indicates that differences between men and women are so substantial that they should be considered in design and analyses of future studies.

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)0.000
metaresearch head score (Gemma)0.001
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 score0.004
Threshold uncertainty score0.014

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0040.000

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 head0.021
GPT teacher head0.251
Teacher spread0.230 · 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

Citations260
Published2015
Admission routes1
Has abstractyes

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