Evidence map›Paper›PMID 30076208›Full record

ArticleJournal of lipid research2018

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Yitian Zhou, Reedik Mägi, Lili Milani, Volker M Lauschke

Erratum issuedOpen access · hybridAbstract read
In one paragraph

Article in Journal of lipid research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.0field-weighted citation impact, top 13% 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

14 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Population Admixture andJournal of cardiovascular development and disease · 2026
    Article
  3. Spectrum and Prevalence of RareInternational journal of molecular sciences · 2024
    Article
  4. Review
  5. Interaction betweenNutrients · 2023
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Review
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  14. Novel Insights into the Genetic Landscape of Nonalcoholic Fatty Liver Disease.International journal of environmental research and public health · 2019
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 2 countries.

Yitian ZhouDepartment of Physiology and Pharmacology, Section of Pharmacogenetics, Karolinska Institutet, Stockholm, Sweden.
Reedik MägiEstonian Genome Center, University of Tartu, Tartu, Estonia.
Lili MilaniEstonian Genome Center, University of Tartu, Tartu, Estonia.
Volker M LauschkeDepartment of Physiology and Pharmacology, Section of Pharmacogenetics, Karolinska Institutet, Stockholm, Sweden volker.lauschke@ki.se.ORCID 0000-0002-1140-6204
Karolinska Institutet · SEScience for Life Laboratory · SEUniversity of Tartu · EE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Abnormal plasma apolipoprotein levels are consistently implicated in CVD risk. Although 30% to 60% of their interindividual variability is genetic, common genetic variants explain only 10% to 20% of these differences. Rare genetic variants may be major sources of the missing heritability, yet quantitative evaluations of their contribution to phenotypic variability are lacking. Here, we analyzed whole-genome and whole-exome sequencing data from 138,632 individuals across seven major human populations to present a systematic overview of genetic apolipoprotein variability. We provide population-specific frequencies of 38 clinically important apolipoprotein alleles and identify further 6,875 genetic variants, 33% of which are novel and 98.7% of which are rare with minor allele frequencies <1%. We predicted the functional impact of rare variants and found that their relative importance differed drastically between genes and among ethnicities. Importantly, we validated the clinical relevance of multiple variants with predicted effects by leveraging association data from the CARDIoGRAM (Coronary Artery Disease Genomewide Replication and Meta-analysis) and Global Lipids Genetics consortia. Overall, we provide a consolidated overview of population-specific apolipoprotein genetics as a valuable data resource for scientists and clinicians, estimate the importance of rare genetic variants for the missing heritability of apolipoprotein-associated disease traits, and pinpoint multiple novel apolipoprotein variants with putative population-specific impacts on serum lipid levels.

Indexed as

Genetic VariationApolipoproteinsCardiovascular DiseasesGene FrequencyGenetic Predisposition to DiseaseHaplotypesHumansApolipoproteinsAlzheimer’s diseasecholesterollipid traitspopulation genetics

Identifiers

PMID30076208
PMCPMC6168301
OpenAlexW2887396069

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.