Evidence map›Paper›PMID 31727947›Full record

ArticleScientific reports2019

Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers.

Julia Höglund, Nima Rafati, Mathias Rask-Andersen, Stefan Enroth, Torgny Karlsson, Weronica E Ek, Åsa Johansson

Abstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 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

28 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  9. Review
  10. Skeletal muscle omics signatures in cancer cachexia: perspectives and opportunities.Journal of the National Cancer Institute. Monographs · 2023
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  16. A functionalClinical kidney journal · 2022
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  17. Genetic Variation and Mendelian Randomization Approaches.Advances in experimental medicine and biology · 2022
    Article
  18. Article
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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

7 authors.

Julia HöglundDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden. julia.hoglund@igp.uu.se.ORCID http://orcid.org/0000-0001-8061-3947
Nima RafatiDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0002-3687-9745
Mathias Rask-AndersenDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0002-8008-4659
Stefan EnrothDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0002-5056-9137
Torgny KarlssonDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0001-8095-6149
Weronica E EkDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Åsa JohanssonDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0002-2915-4498

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have identified associations between thousands of common genetic variants and human traits. However, common variants usually explain a limited fraction of the heritability of a trait. A powerful resource for identifying trait-associated variants is whole genome sequencing (WGS) data in cohorts comprised of families or individuals from a limited geographical area. To evaluate the power of WGS compared to imputations, we performed GWAS on WGS data for 72 inflammatory biomarkers, in a kinship-structured cohort. When using WGS data, we identified 18 novel associations that were not detected when analyzing the same biomarkers with genotyped or imputed SNPs. Five of the novel top variants were low frequency variants with a minor allele frequency (MAF) of <5%. Our results suggest that, even when applying a GWAS approach, we gain power and precision using WGS data, presumably due to more accurate determination of genotypes. The lack of a comparable dataset for replication of our results is a limitation in our study. However, this further highlights that there is a need for more genetic epidemiological studies based on WGS data.

Indexed as

Polymorphism, Single NucleotideAdolescentAdultAgedAged, 80 and overBlood ProteinsFemaleGene FrequencyGenetic MarkersGenome-Wide Association StudyHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedWhole Genome SequencingYoung AdultBlood ProteinsGenetic Markers

Identifiers

PMID31727947
PMCPMC6856527

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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.