Evidence map›Paper›PMID 27416785›Full record

ArticleBMC medical genetics2016

Analysis of copy number variation at DMBT1 and age-related macular degeneration.

Shamik Polley, Valentina Cipriani, Jane C Khan, Humma Shahid, Anthony T Moore, John R W Yates, Edward J Hollox

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 92% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
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

7 authors at 4 institutions in 3 countries.

Shamik PolleyDepartment of Genetics, University of Leicester, Leicester, UK.
Valentina CiprianiUCL Institute of Ophthalmology, University College London, London, UK.
Jane C KhanDepartment of Medical Genetics, University of Cambridge, Cambridge, UK.
Humma ShahidDepartment of Medical Genetics, University of Cambridge, Cambridge, UK.
Anthony T MooreUCL Institute of Ophthalmology, University College London, London, UK.
John R W YatesUCL Institute of Ophthalmology, University College London, London, UK.
Edward J HolloxDepartment of Genetics, University of Leicester, Leicester, UK. ejh33@le.ac.uk.
Moorfields Eye Hospital · GBUniversity of Cambridge · GBUniversity of Leicester · GBCambridge University Hospitals NHS Foundation Trust · GB

Funding

Medical Research Council G0000067Medical Research Council GO801123
6 · The paper itself

Abstract

backgroundDMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway. It lies next to the ARMS2/HTRA1 genes in a region of chromosome 10q26, where single nucleotide variants have been strongly associated with age-related macular degeneration (AMD), the commonest cause of blindness in Western populations. Complement activation is thought to be a key factor in the pathogenesis of this condition. We sought to investigate whether DMBT1 CNV plays any role in the susceptibility to AMD.

methodsWe analysed long-range linkage disequilibrium of DMBT1 CNV1 and CNV2 with flanking single nucleotide polymorphisms (SNPs) using our previously published CNV and HapMap Phase 3 SNP data in the CEPH Europeans from Utah (CEU). We then typed a large cohort of 860 AMD patients and 419 examined age-matched controls for copy number at DMBT1 CNV1 and CNV2 and combined these data with copy numbers from a further 480 unexamined controls.

resultsWe found weak linkage disequilibrium between DMBT1 CNV1 and CNV2 with the SNPs rs1474526 and rs714816 in the HTRA1/ARMS2 region. By directly analysing copy number variation, we found no evidence of association of CNV1 or CNV2 with AMD.

conclusionsWe have shown that copy number variation at DMBT1 does not affect risk of developing age-related macular degeneration and can therefore be ruled out from future studies investigating the association of structural variation at 10q26 with AMD.

Indexed as

AllelesCalcium-Binding ProteinsCase-Control StudiesChromosomes, Human, Pair 10DNA-Binding ProteinsDNA Copy Number VariationsGene FrequencyGenotypeHigh-Temperature Requirement A Serine Peptidase 1HumansLinkage DisequilibriumMacular DegenerationOdds RatioPolymorphism, Single NucleotideProteinsReceptors, Cell SurfaceARMS2 protein, humanCalcium-Binding ProteinsDMBT1 protein, humanDNA-Binding ProteinsHigh-Temperature Requirement A Serine Peptidase 1HTRA1 protein, humanProteinsReceptors, Cell SurfaceSerine EndopeptidasesTumor Suppressor Proteins

Identifiers

PMID27416785
PMCPMC4946147
OpenAlexW2467964554

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LicenceCC BY
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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.