Evidence map›Paper›PMID 35741759›Full record

ArticleGenes2022

New Genetic Variants in

Sini Skarp, Johanna Korvala, Jouko Kotimäki, Martti Sorri, Minna Männikkö, Elina Hietikko

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.1field-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

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Genetic contributions to familial Ménière's disease: a systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026
    Review
  2. Review
  3. The Impact of Genetic Factors in Ménière's Disease.International journal of molecular sciences · 2026
    Review
  4. Article
  5. Article
  6. Review
  7. Review
  8. 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

6 authors at 3 institutions in 1 country.

Sini SkarpResearch Unit of Biomedicine, Faculty of Medicine, University of Oulu, 90220 Oulu, Finland.ORCID 0000-0003-2336-4221
Johanna KorvalaUniversity of Oulu Graduate School, University of Oulu, 90220 Oulu, Finland.
Jouko KotimäkiDepartment of Otorhinolaryngology, Kainuu Central Hospital, 87300 Kajaani, Finland.
Martti SorriDepartment of Otorhinolaryngology and Head and Neck Surgery, Oulu University Hospital, 90220 Oulu, Finland.
Minna MännikköInfrastructure for Population Studies, Northern Finland Birth Cohorts, Faculty of Medicine, University of Oulu, 90220 Oulu, Finland.
Elina HietikkoCenter for Life-Course Health Research, Faculty of Medicine, University of Oulu, Finland and Oulu City Hospital, 90220 Oulu, Finland.
University of Oulu · FIOulu University Hospital · FIKajaani University of Applied Sciences · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The objective was to study the genetic etiology of Ménière's disease (MD) using next-generation sequencing in three families with three cases of MD. Whole exome sequencing was used to identify rare genetic variants co-segregating with MD in Finnish families. In silico estimations and population databases were used to estimate the frequency and pathogenicity of the variants. Variants were validated and genotyped from additional family members using capillary sequencing. A geneMANIA analysis was conducted to investigate the functional pathways and protein interactions of candidate genes. Seven rare variants were identified to co-segregate with MD in the three families: one variant in the

Indexed as

Cytochrome P-450 CYP2B6GABA Plasma Membrane Transport ProteinsMeniere DiseaseExome SequencingHumansNerve Tissue ProteinsOxidative StressCYP2B6 protein, humanCytochrome P-450 CYP2B6GABA Plasma Membrane Transport ProteinsNerve Tissue ProteinsSLC6A1 protein, humangeneticsMénière’s diseasewhole exome sequencing

Identifiers

PMID35741759
PMCPMC9222295
OpenAlexW4281682509

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.