Evidence map›Paper›PMID 25753578›Full record

ArticleScientific reports2015

Novel genetic variants in differentiated thyroid cancer and assessment of the cumulative risk.

Gisella Figlioli, Bowang Chen, Rossella Elisei, Cristina Romei, Chiara Campo, Monica Cipollini, Alfonso Cristaudo, Franco Bambi, Elisa Paolicchi, Per Hoffmann and 11 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.8field-weighted citation impact, top 14% 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

15 citing papers in PubMed, 28 citations in OpenAlex.

  1. Trial
  2. Review
  3. Article
  4. Genetic susceptibility to hereditary non-medullary thyroid cancer.Hereditary cancer in clinical practice · 2022
    Review
  5. Article
  6. Assessing thyroid cancer risk using polygenic risk scores.Proceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  7. Article
  8. Article
  9. Identification of Rare Variants Predisposing to Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2019
    Article
  10. Review
  11. Review
  12. Article
  13. Article
  14. Article
  15. 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

21 authors at 7 institutions in 5 countries.

Gisella Figlioli1] Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany [2] Department of Biology, University of Pisa, Pisa, Italy.
Bowang ChenMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Rossella EliseiDepartment of Endocrinology and Metabolism, University of Pisa, Pisa, Italy.
Cristina RomeiDepartment of Endocrinology and Metabolism, University of Pisa, Pisa, Italy.
Chiara Campo1] Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany [2] Department of Biology, University of Pisa, Pisa, Italy.
Monica CipolliniDepartment of Biology, University of Pisa, Pisa, Italy.
Alfonso CristaudoDepartment of Endocrinology and Metabolism, University of Pisa, Pisa, Italy.
Franco BambiBlood Centre, Azienda Ospedaliero Universitaria A. Meyer, Firenze, Italy.
Elisa PaolicchiDepartment of Biology, University of Pisa, Pisa, Italy.
Per Hoffmann1] Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany [2] Institute of Human Genetics, University of Bonn, Bonn, Germany [3] Division of Medical Genetics, University Hospital Basel; Department of Biomedicine, University of Basel, Basel, Switzerland.
Stefan Herms1] Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany [2] Institute of Human Genetics, University of Bonn, Bonn, Germany [3] Division of Medical Genetics, University Hospital Basel; Department of Biomedicine, University of Basel, Basel, Switzerland.
Michał KalembaDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Dorota KulaDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Susana Pastor1] Grup de Mutagènesi, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, Cerdanyola del Vallés, Barcelona, Spain [2] CIBER Epidemiologia y Salud Pública, ISCIII, Madrid, Spain.
Ricard Marcos1] Grup de Mutagènesi, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, Cerdanyola del Vallés, Barcelona, Spain [2] CIBER Epidemiologia y Salud Pública, ISCIII, Madrid, Spain.
Antonia Velázquez1] Grup de Mutagènesi, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, Cerdanyola del Vallés, Barcelona, Spain [2] CIBER Epidemiologia y Salud Pública, ISCIII, Madrid, Spain.
Barbara JarząbDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, Poland.
Stefano LandiDepartment of Biology, University of Pisa, Pisa, Italy.
Kari Hemminki1] Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany [2] Center for Primary Health Care Research, Clinical Research Center, Lund University, Malmö, Sweden.
Federica GemignaniDepartment of Biology, University of Pisa, Pisa, Italy.
Asta Försti1] Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany [2] Center for Primary Health Care Research, Clinical Research Center, Lund University, Malmö, Sweden.
University of Pisa · ITGerman Cancer Research Center · DEThe Maria Sklodowska-Curie National Research Institute of Oncology · PLUniversitat Autònoma de Barcelona · ESUniversity of Bonn · DELund University · SEMeyer Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A genome-wide association study (GWAS) performed on a high-incidence Italian population followed by replications on low-incidence cohorts suggested a strong association of differentiated thyroid cancer (DTC) with single nucleotide polymorphisms (SNPs) at 9q22.33, 2q35, 20q11.22-q12 and 14q24.3. Moreover, six additional susceptibility loci were associated with the disease only among Italians. The present study had two aims, first to identify loci involved in DTC risk and then to assess the cumulative effect of the SNPs identified so far in the Italian population. The combined analysis of the previous GWAS and the present Italian study provided evidence of association with rs7935113 (GALNTL4, OR = 1.36, 95%CI 1.20-1.53, p-value = 7.41 × 10(-7)) and rs1203952 (FOXA2, OR = 1.29, 95%CI 1.16-1.44, p-value = 4.42 × 10(-6)). Experimental ENCODE and eQTL data suggested that both SNPs may influence the closest genes expression through a differential recruitment of transcription factors. The assessment of the cumulative risk of eleven SNPs showed that DTC risk increases with an increasing number of risk alleles (p-trend = 3.13 × 10(-47)). Nonetheless, only a small fraction (about 4% on the disease liability scale) of DTC is explained by these SNPs. These data are consistent with a polygenic model of DTC predisposition and highlight the importance of association studies in the discovery of the disease hereditability.

Indexed as

Genome-Wide Association StudyAllelesGenetic Predisposition to DiseaseGenetics, PopulationGenotypeHepatocyte Nuclear Factor 3-betaHumansItalyN-AcetylgalactosaminyltransferasesPolymorphism, Single NucleotideRisk FactorsThyroid NeoplasmsFOXA2 protein, humanHepatocyte Nuclear Factor 3-betaN-Acetylgalactosaminyltransferases

Identifiers

PMID25753578
PMCPMC4354074
OpenAlexW2066293964

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.