Evidence map›Paper›PMID 22960374›Full record

ArticleGenome research2012

Sex-biased genetic effects on gene regulation in humans.

Antigone S Dimas, Alexandra C Nica, Stephen B Montgomery, Barbara E Stranger, Towfique Raj, Alfonso Buil, Thomas Giger, Tuuli Lappalainen, Maria Gutierrez-Arcelus, MuTHER Consortium and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

62 citing papers in PubMed, 3 syntheses or guidelines pooled it, 118 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Thrombin-Activatable Fibrinolysis Inhibitor Polymorphisms and Cerebral Venous Thrombosis in Mexican Mestizo Patients.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis · 2018
    Trial
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  19. Sex and gender in interstitial lung diseases.European respiratory review : an official journal of the European Respiratory Society · 2021
    Article
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2 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 4 countries.

Antigone S DimasDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.
Alexandra C Nica
Stephen B Montgomery
Barbara E Stranger
Towfique Raj
Alfonso Buil
Thomas Giger
Tuuli Lappalainen
Maria Gutierrez-Arcelus
MuTHER Consortium
Mark I McCarthy
Emmanouil T Dermitzakis
University of Geneva · CHBroad Institute · USCentre for Human Genetics · GB

Funding

Methods for high-resolution analysis of genetic effects on gene expressionR01MH090941 · NIMH · UNIVERSITY OF GENEVA · PI DERMITZAKIS, EMMANOUIL, GUIGO, RODERIC · 2010 to 2012
$863k
Medical Research Council G0900339NIMH NIH HHS R01 MH090941Wellcome Trust 090532
6 · The paper itself

Abstract

Human regulatory variation, reported as expression quantitative trait loci (eQTLs), contributes to differences between populations and tissues. The contribution of eQTLs to differences between sexes, however, has not been investigated to date. Here we explore regulatory variation in females and males and demonstrate that 12%-15% of autosomal eQTLs function in a sex-biased manner. We show that genes possessing sex-biased eQTLs are expressed at similar levels across the sexes and highlight cases of genes controlling sexually dimorphic and shared traits that are under the control of distinct regulatory elements in females and males. This study illustrates that sex provides important context that can modify the effects of functional genetic variants.

Indexed as

Gene Expression RegulationQuantitative Trait LociFemaleGene Expression ProfilingGenotypeHumansMalePhenotypePolymorphism, Single NucleotideRNASex FactorsRNA

Identifiers

PMID22960374
PMCPMC3514666
OpenAlexW2148430299

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.