Evidence map›Paper›PMID 27115767›Full record

ArticleHernia : the journal of hernias and abdominal wall surgery2017

Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia.

E Mihailov, T Nikopensius, A Reigo, C Nikkolo, M Kals, K Aruaas, L Milani, H Seepter, A Metspalu

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Hernia : the journal of hernias and abdominal wall surgery, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 27% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
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.

E MihailovEstonian Genome Center, University of Tartu, 23b Riia Street, 51010, Tartu, Estonia. evelin.mihailov@ut.ee.
T NikopensiusEstonian Genome Center, University of Tartu, 23b Riia Street, 51010, Tartu, Estonia.
A ReigoEstonian Genome Center, University of Tartu, 23b Riia Street, 51010, Tartu, Estonia.
C NikkoloSurgery Clinic, Tartu University Hospital, 8 Puusepa Street, 51014, Tartu, Estonia.
M KalsEstonian Genome Center, University of Tartu, 23b Riia Street, 51010, Tartu, Estonia.
K AruaasInstitute of Molecular and Cell Biology, University of Tartu, 23 Riia Street, 51010, Tartu, Estonia.
L MilaniEstonian Genome Center, University of Tartu, 23b Riia Street, 51010, Tartu, Estonia.
H SeepterSurgery Clinic, Tartu University Hospital, 8 Puusepa Street, 51014, Tartu, Estonia.
A MetspaluEstonian Genome Center, University of Tartu, 23b Riia Street, 51010, Tartu, Estonia.
University of Tartu · EETartu University Hospital · EE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeInguinal hernia repair is one of the most common procedures in general surgery. Males are seven times more likely than females to develop a hernia and have a 27 % lifetime 'risk' of inguinal hernia repair. Several studies have demonstrated that a positive family history is an important risk factor for the development of primary inguinal hernia, which indicates that genetic factors may play important roles in the etiology of the disease. So far, the contribution of genetic factors and underlying mechanisms for inguinal hernia remain largely unknown. The aim of this study was to investigate a multiplex Estonian family with inguinal hernia across four generations.

methodsThe whole-exome sequencing was carried out in three affected family members and subsequent mutation screening using Sanger sequencing was performed in ten family members (six affected and four unaffected).

resultsWhole-exome sequencing in three affected family members revealed a heterozygous missense mutation c.88880A>C (p.Lys29627Thr; RefSeq NM_001256850.1) in the highly conserved myosin-binding A-band of the TTN gene. Sanger sequencing demonstrated that this mutation cosegregated with the disease in this family and was not present in ethnically matched control subjects.

conclusionWe report that missense variant in the A-band of TTN is the strongest candidate mutation for autosomal-dominant inguinal hernia with incomplete penetrance.

Indexed as

ExomeGenome-Wide Association StudyAdultAgedAged, 80 and overConnectinFemaleGenetic LinkageHernia, InguinalHumansMaleMiddle AgedMutation, MissensePedigreeSequence Analysis, DNAConnectinTTN protein, humanGeneticsInguinal herniaTitinWhole-exome sequencing

Identifiers

PMID27115767
PMCPMC5281683
OpenAlexW2471770388

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.