Evidence map›Paper›PMID 32237968›Full record

ArticleEpigenetics2020

DNA methylation profiling identifies a high effect genetic variant for lipoprotein(a) levels.

Gregory T Jones, Judith Marsman, Basharat Bhat, Victoria L Phillips, Aniruddha Chatterjee, Euan J Rodger, Michael J A Williams, André M van Rij, Sally P A McCormick

Open access · bronzeAbstract read
In one paragraph

Article in Epigenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
3.6field-weighted citation impact, top 6% 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

11 citing papers in PubMed, 50 citations in OpenAlex.

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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 1 institution in 1 country.

Gregory T JonesDepartments of Surgical Sciences, University of Otago , Dunedin, New Zealand.ORCID 0000-0002-6950-4210
Judith MarsmanDepartments of Surgical Sciences, University of Otago , Dunedin, New Zealand.ORCID 0000-0001-6542-3571
Basharat BhatDepartments of Surgical Sciences, University of Otago , Dunedin, New Zealand.ORCID 0000-0002-4148-1694
Victoria L PhillipsDepartments of Surgical Sciences, University of Otago , Dunedin, New Zealand.
Aniruddha ChatterjeePathology, University of Otago , Dunedin, New Zealand.ORCID 0000-0001-7276-2248
Euan J RodgerPathology, University of Otago , Dunedin, New Zealand.
Michael J A WilliamsMedicine, University of Otago , Dunedin, New Zealand.
André M van RijDepartments of Surgical Sciences, University of Otago , Dunedin, New Zealand.
Sally P A McCormickBiochemistry, University of Otago , Dunedin, New Zealand.
University of Otago · NZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Changes in whole blood DNA methylation levels at several CpG sites have been associated with circulating blood lipids, specifically high-density lipoprotein and triglycerides. This study performs a discovery and validation epigenome-wide association study (EWAS) for circulating lipoprotein(a) [Lp(a)], an independent risk factor for cardiovascular diseases. Whole-blood DNA methylation profiles were assessed in a cohort of 1020 elderly individuals using the Illumina EPIC array and independent validation in 359 elderly males using the Illumina 450 k array. Plasma Lp(a) was measured using an apolipoprotein(a)-size-independent ELISA. Epigenome-wide rank regression analysis identified and validated a single CpG site, cg17028067 located in intron 1 of the LPA gene, that was significantly associated with plasma Lp(a) levels after correction for multiple testing. Genotyping of the site identified a relatively uncommon SNP (rs76735376, MAF <0.02) at the CpG site that largely explained the observed methylation effect. Rs76735376 is an expression quantitative trait loci for the LPA gene and could affect expression by altering enhancer activity. This EWAS for plasma Lp(a) identified a single CpG site within LPA. This association is due to an uncommon, but highly effective genetic variant, which was not in significant linkage disequilibrium with other variants known to influence Lp(a) levels or apo(a) isoform size. This study highlights the utility of CpG site methylation to identify potentially important genetic associations that would not be readily apparent in a comparable size genetic association study.

Indexed as

DNA MethylationPolymorphism, Single NucleotideQuantitative Trait LociAgedCpG IslandsEpigenomeFemaleHumansLipoprotein(a)MaleMiddle AgedLipoprotein(a)LPA protein, humanDNA methylationlipoprotein(a)methylation quantitative trait locisingle-nucleotide polymorphism

Identifiers

PMID32237968
PMCPMC7518699
OpenAlexW3014109391

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.