Evidence map›Paper›PMID 27447835›Full record

ArticlePLoS genetics2016

Expression Quantitative Trait Locus Mapping Studies in Mid-secretory Phase Endometrial Cells Identifies HLA-F and TAP2 as Fecundability-Associated Genes.

Courtney K Burrows, Gülüm Kosova, Catherine Herman, Kristen Patterson, Katherine E Hartmann, Digna R Velez Edwards, Mary D Stephenson, Vincent J Lynch, Carole Ober

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
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

24 citing papers in PubMed, 42 citations in OpenAlex.

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  8. International journal of molecular sciences · 2023
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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

9 authors at 2 institutions in 1 country.

Courtney K BurrowsDepartment of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.ORCID 0000-0003-1715-1123
Gülüm KosovaDepartment of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
Catherine HermanDepartment of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.ORCID 0000-0001-8087-1970
Kristen PattersonDepartment of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
Katherine E HartmannInstitute for Medicine and Public Health, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, Tennessee, United States of America.
Digna R Velez EdwardsInstitute for Medicine and Public Health, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, Tennessee, United States of America.
Mary D StephensonDepartment of Obstetrics and Gynecology, The University of Chicago, Chicago, Illinois, United States of America.
Vincent J LynchDepartment of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
Carole OberDepartment of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
University of Chicago · USVanderbilt University · US

Funding

The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4M
Sex-Specific Genetic Architecture of Asthma-Associated Quantitative TraitsR01HL085197 · NHLBI · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 2007 to 2015
$7.6M
Consequences and Course of Uterine Fibroids in PregnancyR01HD043883 · NICHD · VANDERBILT UNIVERSITY · PI HARTMANN, KATHERINE E · 2004 to 2008
$3.1M
MOLECULAR GENETIC STUDIES OF FERTILITY IN THE HUTTERITESR01HD021244 · NICHD · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 1986 to 2011
$3.0M
Non-steroidal anti-inflammatory use and miscarriageR01HD049675 · NICHD · VANDERBILT UNIVERSITY · PI HARTMANN, KATHERINE E · 2006 to 2010
$2.6M
NCATS NIH HHS UL1 TR000445NHLBI NIH HHS R01 HL085197NICHD NIH HHS R01 HD021244NICHD NIH HHS R01 HD043883NICHD NIH HHS R01 HD049675
6 · The paper itself

Abstract

Fertility traits in humans are heritable, however, little is known about the genes that influence reproductive outcomes or the genetic variants that contribute to differences in these traits between individuals, particularly women. To address this gap in knowledge, we performed an unbiased genome-wide expression quantitative trait locus (eQTL) mapping study to identify common regulatory (expression) single nucleotide polymorphisms (eSNPs) in mid-secretory endometrium. We identified 423 cis-eQTLs for 132 genes that were significant at a false discovery rate (FDR) of 1%. After pruning for strong LD (r2 >0.95), we tested for associations between eSNPs and fecundability (the ability to get pregnant), measured as the length of the interval to pregnancy, in 117 women. Two eSNPs were associated with fecundability at a FDR of 5%; both were in the HLA region and were eQTLs for the TAP2 gene (P = 1.3x10-4) and the HLA-F gene (P = 4.0x10-4), respectively. The effects of these SNPs on fecundability were replicated in an independent sample. The two eSNPs reside within or near regulatory elements in decidualized human endometrial stromal cells. Our study integrating eQTL mapping in a primary tissue with association studies of a related phenotype revealed novel genes and associated alleles with independent effects on fecundability, and identified a central role for two HLA region genes in human implantation success.

Indexed as

AdultATP Binding Cassette Transporter, Subfamily B, Member 3Chromosome MappingEndometriumFemaleFertilityGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyHistocompatibility Antigens Class IHumansPhenotypePolymorphism, Single NucleotidePregnancyQuantitative Trait LociRegulatory Sequences, Nucleic AcidATP Binding Cassette Transporter, Subfamily B, Member 3Histocompatibility Antigens Class IHLA-F antigensTAP2 protein, human

Identifiers

PMID27447835
PMCPMC4957750
OpenAlexW2489377760

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.