Evidence map›Paper›PMID 17513527›Full record

ArticleJournal of medical genetics2007

Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.

E Van Eyken, G Van Camp, E Fransen, V Topsakal, J J Hendrickx, K Demeester, P Van de Heyning, E Mäki-Torkko, S Hannula, M Sorri and 23 more

Open access · greenAbstract readComparative StudyMulticenter Study
In one paragraph

Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 11% 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

40 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
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  5. Review
  6. Review
  7. Article
  8. 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
  9. Article
  10. Article
  11. Pathology and mechanisms of cochlear aging.Journal of neuroscience research · 2020
    Review
  12. Article
  13. Review
  14. Review
  15. Article
  16. Age-Related Hearing Loss.Cold Spring Harbor perspectives in medicine · 2019
    Review
  17. Article
  18. Review
  19. Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.JAMA otolaryngology-- head & neck surgery · 2016
    Article
  20. The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population.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 · 2016
    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

33 authors at 11 institutions in 7 countries.

E Van EykenDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.
G Van Camp
E Fransen
V Topsakal
J J Hendrickx
K Demeester
P Van de Heyning
E Mäki-Torkko
S Hannula
M Sorri
M Jensen
A Parving
M Bille
M Baur
M Pfister
A Bonaconsa
M Mazzoli
E Orzan
A Espeso
D Stephens
K Verbruggen
J Huyghe
I Dhooge
P Huygen
H Kremer
C W R J Cremers
S Kunst
M Manninen
I Pyykkö
A Lacava
M Steffens
T F Wienker
L Van Laer
Antwerp University Hospital · BERadboud University Nijmegen · NLUniversity of Antwerp · BEBispebjerg Hospital · DKGhent University Hospital · BEUniversity of Bonn · DEUniversity of Oulu · FIUniversity of Padua · ITTampere University · FIUniversity Hospital of Wales · GBUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAge-related hearing impairment (ARHI) is the most common sensory impairment in older people, affecting 50% of those aged 80 years. The proportion of older people is increasing in the general population, and as a consequence, the number of people affected with ARHI is growing. ARHI is a complex disorder, with both environmental and genetic factors contributing to the disease. The first studies to elucidate these genetic factors were recently performed, resulting in the identification of the first two susceptibility genes for ARHI, NAT2 and KCNQ4.

methodsIn the present study, the association between ARHI and polymorphisms in genes that contribute to the defence against reactive oxygen species, including GSTT1, GSTM1 and NAT2, was tested. Samples originated from seven different countries and were combined into two test population samples, the general European population and the Finnish population. Two distinct phenotypes for ARHI were studied, Z(low) and Z(high), representing hearing in the low and high frequencies, respectively. Statistical analysis was performed for single polymorphisms (GSTM1, GSTT1, NAT2*5A, NAT2*6A, and NAT2*7A), haplotypes, and gene-environment and gene-gene interactions.

resultsWe found an association between ARHI and GSTT1 and GSTM1 in the Finnish population sample, and with NAT2*6A in the general European population sample. The latter finding replicates previously published data.

conclusionAs replication is considered the ultimate proof of true associations in the study of complex disorders, this study provides further support for the involvement of NAT2*6A in ARHI.

Indexed as

Polymorphism, Single NucleotideAgedAge of OnsetArylamine N-AcetyltransferaseEnvironmentEpistasis, GeneticEuropeFemaleFinlandGene FrequencyGlutathione TransferaseHaplotypesHearing DisordersHearing Loss, High-FrequencyHumansMaleArylamine N-Acetyltransferaseglutathione S-transferase T1Glutathione TransferaseNAT2 protein, human

Identifiers

PMID17513527
PMCPMC2597944
OpenAlexW2268626592

What OpenQuestion holds

Textmetadata
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.