Evidence map›Paper›PMID 30026596›Full record

ArticleScientific reports2018

Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.

Núria Martínez-Gil, Neus Roca-Ayats, Anna Monistrol-Mula, Natàlia García-Giralt, Adolfo Díez-Pérez, Xavier Nogués, Leonardo Mellibovsky, Daniel Grinberg, Susana Balcells

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2018. 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
0.9field-weighted citation impact, top 26% 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, 18 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Genetic variation inBone reports · 2022
    Article
  5. Article
  6. Review
  7. Article
  8. Genetics and Genomics ofInternational journal of molecular sciences · 2021
    Article
  9. Article
  10. Observational
  11. WNT16 primer.Differentiation; research in biological diversity
    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

9 authors at 2 institutions in 1 country.

Núria Martínez-GilDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.
Neus Roca-AyatsDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.
Anna Monistrol-MulaDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.ORCID 0000-0001-5879-3558
Natàlia García-GiraltMusculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain.
Adolfo Díez-PérezMusculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain.
Xavier NoguésMusculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain.ORCID 0000-0002-5537-1859
Leonardo MellibovskyMusculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain.
Daniel GrinbergDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.
Susana BalcellsDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain. sbalcells@ub.edu.
Centre for Biomedical Network Research on Rare Diseases · ESInstituto de Salud Carlos III · ES

Funding

Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness) SAF2014-56562-RMinisterio de Economía y Competitividad (Ministry of Economy and Competitiveness) SAF2016-75948-RMinisterio de Educación, Cultura y Deporte (Ministry of Education, Culture and Sports, Spain) FPU13/02066
6 · The paper itself

Abstract

Numerous GWAS and candidate gene studies have highlighted the role of the Wnt pathway in bone biology. Our objective has been to study in detail the allelic architecture of three Wnt pathway genes: WNT16, DKK1 and SOST, in the context of osteoporosis. We have resequenced the coding and some regulatory regions of these three genes in two groups with extreme bone mineral density (BMD) (n = ∼50, each) from the BARCOS cohort. No interesting novel variants were identified. Thirteen predicted functional variants have been genotyped in the full cohort (n = 1490), and for ten of them (with MAF > 0.01), the association with BMD has been studied. We have found six variants nominally associated with BMD, of which 2 WNT16 variants predicted to be eQTLs for FAM3C (rs55710688, in the Kozak sequence and rs142005327, within a putative enhancer) withstood multiple-testing correction. In addition, two rare variants in functional regions (rs190011371 in WNT16b 3'UTR and rs570754792 in the SOST TATA box) were found only present in three women each, all with BMD below the mean of the cohort. Our results reinforce the higher importance of regulatory versus coding variants in these Wnt pathway genes and open new ways for functional studies of the relevant variants.

Indexed as

Polymorphism, Single Nucleotide3' Untranslated RegionsAdaptor Proteins, Signal TransducingBone DensityBone Morphogenetic ProteinsCytokinesFemaleGenetic MarkersGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntercellular Signaling Peptides and ProteinsMutation, MissenseNeoplasm ProteinsOsteoporosisPostmenopause3' Untranslated RegionsAdaptor Proteins, Signal TransducingBone Morphogenetic ProteinsCytokinesDKK1 protein, humanFAM3C protein, humanGenetic MarkersIntercellular Signaling Peptides and ProteinsNeoplasm ProteinsSOST protein, humanWNT16 protein, humanWnt Proteins

Identifiers

PMID30026596
PMCPMC6053384
OpenAlexW2883877804

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.