Evidence map›Paper›PMID 36114336›Full record

ArticleScientific reports2022

Impact of EFEMP1 on the survival outcome of biliary atresia in Thai infants.

Wison Laochareonsuk, Kanita Kayasut, Komwit Surachat, Piyawan Chiengkriwate, Surasak Sangkhathat

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

Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 17% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Genetic background and biliary atresia.World journal of pediatric surgery · 2025
    Review
  4. Review
  5. Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.Pediatrics international : official journal of the Japan Pediatric Society
    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

5 authors at 1 institution in 1 country.

Wison LaochareonsukDepartment of Surgery and Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Hat Yai, 90110, Songkhla, Thailand.
Kanita KayasutDepartment of Pathology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
Komwit SurachatDepartment of Biomedical Science and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
Piyawan ChiengkriwateDepartment of Surgery, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
Surasak SangkhathatDepartment of Surgery and Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Hat Yai, 90110, Songkhla, Thailand. surasak.sa@psu.ac.th.
Prince of Songkla University · TH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies (GWASs) have identified a genetic associated between EFEMP1 and biliary atresia (BA). To examine the susceptibility of single nucleotide polymorphisms (SNPs) in EFEMP1 in Thai BA patients, we performed an analysis of the genetic associations and biological interactions with previously reported key SNPs in ADD3, a key gene associated with BA. The study also used high-throughput sequencing to detect novel variants in both genes. In addition, the clinical impact of EFEMP1 SNPs in terms of survival association was also evaluated. The genotypes of 60 BA patients and 179 controls were evaluated using a TaqMan genotyping assay for rs2501577 and rs17095355 in ADD3 and rs6761893 and rs727878 in EFEMP1. The genotype frequencies were analyzed together with the SNP-SNP interactions. Fine mapping by whole-exome sequencing was performed to identify deleterious variants within both genes, and the survival analysis results were analyzed with the EFEMP1 SNPs. The recessive genotypes of rs2501577, rs17095355 and rs6761893 showed significantly higher frequencies in the BA patients than the controls, and a logistic regression showed that minor alleles of those SNPs increased the BA risk by ORs of 1.86, 1.67, and 1.84, respectively. Moreover, the SNP-SNP interference suggested that a combination of recessive alleles from the 2 genes resulted in an additive risk to BA. In addition, rare missense variants in the gene coding sequences were identified in 7 cases. Immunohistochemical studies revealed a pattern of ADD3 downregulation and EFEMP1 overexpression in the bile ducts of BA patients. Patients with the AA genotype of rs6761893 had significantly lower 5-year native liver survival (34.0%) than those with AT/TT (75.0%), with a log-rank p value of 0.041. Variants in EFEMP1 are associated with the occurrence of BA in Thai patients. In addition, these variants have an additive influence on BA risk when combined with ADD3 variants. Moreover, rs6761893 in EFEMP1 was indicative of survival in Thai BA patients.

Indexed as

Biliary AtresiaExtracellular Matrix ProteinsAdducinsCalmodulin-Binding ProteinsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInfantThailandADD3 protein, humanAdducinsCalmodulin-Binding ProteinsEFEMP1 protein, humanExtracellular Matrix Proteins

Identifiers

PMID36114336
PMCPMC9481615
OpenAlexW4296067089

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.