Evidence map›Paper›PMID 36720993›Full record

ArticleJournal of human genetics2023

Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome.

Sarah M Lyle, Samah Ahmed, Jason E Elliott, Elisabet Stener-Victorin, Mark W Nachtigal, Britt I Drögemöller

Abstract read
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In one paragraph

Article in Journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
3.0field-weighted citation impact, top 9% of its field
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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. New insights into the (epi)genetics of twinning.Human reproduction (Oxford, England) · 2024
    Pooled it
  2. Integrative Multi-omics Analysis for Prioritization of Candidate Genes in Polycystic Ovary Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026
    Article
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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

6 authors at 4 institutions in 2 countries.

Sarah M LyleDepartment of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Samah AhmedDepartment of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Jason E ElliottDepartment of Obstetrics, Gynecology and Reproductive Sciences, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Elisabet Stener-VictorinDepartment of Physiology and Pharmacology, Karolinska Institute, Solna, Stockholm, Sweden.
Mark W NachtigalDepartment of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Britt I DrögemöllerDepartment of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada. britt.drogemoller@umanitoba.ca.ORCID http://orcid.org/0000-0002-3348-5855
CancerCare Manitoba · CAUniversity of Manitoba · CAChildren's Hospital Research Institute of Manitoba · CAKarolinska Institutet · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Polycystic ovary syndrome (PCOS) is a common endocrine disorder, which is accompanied by a variety of comorbidities including metabolic, reproductive, and psychiatric disorders. Genome-wide association studies have identified several genetic variants that are associated with PCOS. However, these variants often occur outside of coding regions and require further investigation to understand their contribution to PCOS. A transcriptome-wide association study (TWAS) was performed to uncover heritable gene expression profiles that are associated with PCOS in two independent cohorts. Causal gene prioritization was subsequently performed and expression of genes prioritized through these analyses was examined in 49 PCOS patients and 30 controls. TWAS analyses revealed that increased expression of ARL14EP was significantly associated with PCOS risk in the discovery (P = 1.6 × 10

Indexed as

Polycystic Ovary SyndromeAdaptor Proteins, Vesicular TransportCase-Control StudiesFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansTranscriptomeAdaptor Proteins, Vesicular TransportARL14EP protein, human

Identifiers

PMID36720993
OpenAlexW4318595764

What OpenQuestion holds

Textmetadata
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.