Evidence map›Paper›PMID 20627891›Full record

ArticleGenome research2010

An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer.

Nora F Wasserman, Ivy Aneas, Marcelo A Nobrega

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 130 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
130citing papers in PubMed, 6 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

130 citing papers in PubMed, 6 syntheses or guidelines pooled it, 207 citations in OpenAlex.

  1. Pooled it
  2. Association of rs6983267 Polymorphism and Thyroid Cancer Susceptibility: A Systematic Review and Meta-Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2016
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  18. ACell genomics · 2022
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70 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

3 authors at 1 institution in 1 country.

Nora F WassermanDepartment of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
Ivy Aneas
Marcelo A Nobrega
University of Chicago · US

Funding

Generation and in vivo validation of cis-regulatory maps in eukaryotic genomesR01HG004428 · NHGRI · UNIVERSITY OF CHICAGO · PI NOBREGA, MARCELO A. · 2007 to 2009
$1.5M
Dissecting of the Tbx20 Regulatory NetworkR01HL088393 · NHLBI · UNIVERSITY OF CHICAGO · PI NOBREGA, MARCELO A. · 2009 to 2010
$844k
NCI NIH HHS PC094251NHGRI NIH HHS HG004428NHGRI NIH HHS R01 HG004428NHLBI NIH HHS R01 HL088393
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) routinely identify risk variants in noncoding DNA, as exemplified by reports of multiple single nucleotide polymorphisms (SNPs) associated with prostate cancer in five independent regions in a gene desert on 8q24. Two of these regions also have been associated with breast and colorectal cancer. These findings implicate functional variation within long-range cis-regulatory elements in disease etiology. We used an in vivo bacterial artificial chromosome (BAC) enhancer-trapping strategy in mice to scan a half-megabase of the 8q24 gene desert encompassing the prostate cancer-associated regions for long-range cis-regulatory elements. These BAC assays identified both prostate and mammary gland enhancer activities within the region. We demonstrate that the 8q24 cancer-associated variant rs6983267 lies within an in vivo prostate enhancer whose expression mimics that of the nearby MYC proto-oncogene. Additionally, we show that the cancer risk allele increases prostate enhancer activity in vivo relative to the non-risk allele. This allele-specific enhancer activity is detectable during early prostate development and throughout prostate maturation, raising the possibility that this SNP could assert its influence on prostate cancer risk before tumorigenesis occurs. Our study represents an efficient strategy to build experimentally on GWAS findings with an in vivo method for rapidly scanning large regions of noncoding DNA for functional cis-regulatory sequences harboring variation implicated in complex diseases.

Indexed as

AnimalsChromosomes, Artificial, BacterialChromosomes, Human, Pair 8Enhancer Elements, GeneticGenome-Wide Association StudyHumansMaleMiceMice, TransgenicPolymorphism, Single NucleotideProstatic NeoplasmsProto-Oncogene MasProto-Oncogene Proteins c-mycMAS1 protein, humanProto-Oncogene MasProto-Oncogene Proteins c-myc

Identifiers

PMID20627891
PMCPMC2928497
OpenAlexW2166537866

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.