Evidence map›Paper›PMID 25060954›Full record

SynthesisHuman molecular genetics2014

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.

Lisa E Wolber, Giorgia Girotto, Annalisa Buniello, Dragana Vuckovic, Nicola Pirastu, Beatriz Lorente-Cánovas, Igor Rudan, Caroline Hayward, Ozren Polasek, Marina Ciullo and 8 more

Open access · hybridAbstract readMeta-Analysis
In one paragraph

Synthesis in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 4 pooled it
0.8field-weighted citation impact, top 32% 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

20 citing papers in PubMed, 4 syntheses or guidelines pooled it, 45 citations in OpenAlex.

  1. Pooled it
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  4. Pooled it
  5. Article
  6. Review
  7. Article
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  11. Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.Proceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  12. Review
  13. Article
  14. Characterization of the transcriptomes ofAmerican journal of stem cells · 2020
    Article
  15. Article
  16. Article
  17. Age-Related Hearing Loss.Cold Spring Harbor perspectives in medicine · 2019
    Review
  18. Article
  19. Article
  20. 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

18 authors at 5 institutions in 3 countries.

Lisa E WolberDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Giorgia GirottoMedical Genetics, Department of Reproductive Sciences, Development and Public Health, IRCCS-Burlo Garofolo Children Hospital, University of Trieste, Trieste 34100, Italy.
Annalisa BunielloWolfson Centre for Age-Related Diseases, King's College London, London SE1 1UL, UK.
Dragana VuckovicMedical Genetics, Department of Reproductive Sciences, Development and Public Health, IRCCS-Burlo Garofolo Children Hospital, University of Trieste, Trieste 34100, Italy.
Nicola PirastuMedical Genetics, Department of Reproductive Sciences, Development and Public Health, IRCCS-Burlo Garofolo Children Hospital, University of Trieste, Trieste 34100, Italy.
Beatriz Lorente-CánovasWolfson Centre for Age-Related Diseases, King's College London, London SE1 1UL, UK.
Igor RudanCentre for Population Health Sciences, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, UK.
Caroline HaywardMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
Ozren PolasekDepartment of Public Health, Faculty of Medicine, University of Split, Split 21000, Croatia.
Marina CiulloInstitute of Genetics and Biophysics "A. Buzzati-Traverso" CNR, Naples 80131, Italy and.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Claire StevesDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Maria Pina ConcasInstitute of Population Genetics, National Research Council of Italy, Sassari, Italy.
Massilimiliano CoccaMedical Genetics, Department of Reproductive Sciences, Development and Public Health, IRCCS-Burlo Garofolo Children Hospital, University of Trieste, Trieste 34100, Italy.
Tim D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK.
Paolo GaspariniMedical Genetics, Department of Reproductive Sciences, Development and Public Health, IRCCS-Burlo Garofolo Children Hospital, University of Trieste, Trieste 34100, Italy.
Karen P SteelWolfson Centre for Age-Related Diseases, King's College London, London SE1 1UL, UK.
Frances M K WilliamsDepartment of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK, frances.williams@kcl.ac.uk.
King's College London · GBUniversity of Edinburgh · GBInstitute of Genetics and Biophysics · ITNational Research Council · ITUniversity of Split · HR

Funding

Medical Research Council G0300212Medical Research Council MC_PC_U127561128Medical Research Council MC_QA137918Wellcome Trust 098051Wellcome Trust 100669
6 · The paper itself

Abstract

Hearing function is known to be heritable, but few significant and reproducible associations of genetic variants have been identified to date in the adult population. In this study, genome-wide association results of hearing function from the G-EAR consortium and TwinsUK were used for meta-analysis. Hearing ability in eight population samples of Northern and Southern European ancestry (n = 4591) and the Silk Road (n = 348) was measured using pure-tone audiometry and summarized using principal component (PC) analysis. Genome-wide association analyses for PC1-3 were conducted separately in each sample assuming an additive model adjusted for age, sex and relatedness of subjects. Meta-analysis was performed using 2.3 million single-nucleotide polymorphisms (SNPs) tested against each of the three PCs of hearing ability in 4939 individuals. A single SNP lying in intron 6 of the salt-inducible kinase 3 (SIK3) gene was found to be associated with hearing PC2 (P = 3.7×10(-8)) and further supported by whole-genome sequence in a subset. To determine the relevance of this gene in the ear, expression of the Sik3 protein was studied in mouse cochlea of different ages. Sik3 was expressed in murine hair cells during early development and in cells of the spiral ganglion during early development and adulthood. Our results suggest a developmental role of Sik3 in hearing and may be required for the maintenance of adult auditory function.

Indexed as

Age FactorsAnimalsCochleaGenome-Wide Association StudyHearingHumansMice, Inbred C57BLPolymorphism, Single NucleotideProtein KinasesWhite PeopleProtein KinasesSIK3 protein, human

Identifiers

PMID25060954
PMCPMC4222365
OpenAlexW2142564809

What OpenQuestion holds

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LicenceCC BY
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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.