Evidence map›Paper›PMID 30563518›Full record

ArticleBMC medical genomics2018

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.

Sophia R Cameron-Christie, Justin Wilde, Andrew Gray, Rick Tankard, Melanie Bahlo, David Markie, Helen M Evans, Stephen P Robertson

Open access · goldAbstract read
In one paragraph

Article in BMC medical genomics, 2018. 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
1.4field-weighted citation impact, top 18% 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, 8 citations in OpenAlex.

  1. Review
  2. Article
  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

8 authors at 4 institutions in 2 countries.

Sophia R Cameron-ChristieDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9054, New Zealand.ORCID 0000-0001-7123-9631
Justin WildeDepartment of Paediatrics, Tauranga Hospital, Tauranga, New Zealand.
Andrew GrayDepartment of Preventive and Social Medicine, University of Otago, Dunedin, 9054, New Zealand.
Rick TankardPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC, 3052, Australia.
Melanie BahloPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC, 3052, Australia.
David MarkieDepartment of Pathology, University of Otago, Dunedin, 9054, New Zealand.
Helen M EvansPaediatric Gastroenterology and Hepatology, Starship Children's Health, 2 Park Road, Grafton, Auckland, 1023, New Zealand.
Stephen P RobertsonDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9054, New Zealand. stephen.robertson@otago.ac.nz.
University of Otago · NZThe University of Melbourne · AUStarship Children's Health · NZTauranga Hospital · NZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBiliary atresia (BA), a fibrosing disorder of the developing biliary tract leading to liver failure in infancy, has an elevated incidence in indigenous New Zealand (NZ) Māori. We investigated a high rate of BA in a group of children (n = 12) belonging to a single Māori iwi (or 'tribe', related through a remote ancestor).

methodsPopulation and geographical data was used to estimate the rate of BA in Māori sub-groups, and a pedigree linking most of the affected children was constructed from oral and documented history. Array genotyping was used to examine hypotheses about the inheritance of a possible genetic risk factor, and the history of the affected population, and Exome Sequencing to search for candidate genes.

resultsMost of these affected children (n = 7) link to a self-reported pedigree and carry a 50-fold increase in BA risk over unrelated Māori (χ

conclusionThe substantially elevated risk for development of BA in this subgroup could be mediated by genetic factors, but the iwi exhibits no properties indicative of recent or remote reproductive isolation. Resolution of any risk loci may rely on extensive genomic sequencing studies in this iwi or investigation of other mechnaisms such as copy number variation.

Indexed as

Biliary AtresiaChildExome SequencingFemaleGene FrequencyGenetic Predisposition to DiseaseGenetics, PopulationGenotypeHomozygoteHumansMaleNew ZealandPedigreePolymorphism, Single NucleotideRiskBiliary atresiaExome sequencingPaediatric diseasePopulation genetics

Identifiers

PMID30563518
PMCPMC6299523
OpenAlexW2904246627

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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.