Evidence map›Paper›PMID 39214992›Full record

ArticleNature communications2024

Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism.

Pol Solé-Navais, Julius Juodakis, Karin Ytterberg, Xiaoping Wu, Jonathan P Bradfield, Marc Vaudel, Abigail L LaBella, Øyvind Helgeland, Christopher Flatley, Frank Geller and 13 more

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. 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

23 authors.

Pol Solé-Navais *Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden. pol.sole.navais@gu.se.ORCID 0000-0002-3326-266X
Julius Juodakis *Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.
Karin YtterbergDepartment of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.
Xiaoping WuDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.ORCID 0000-0002-7844-1397
Jonathan P BradfieldCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Marc VaudelMohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway.ORCID 0000-0003-1179-9578
Abigail L LaBellaDepartment of Bioinformatics and Genomics, College of Computing and Informatics, North Carolina Research Campus, University of North Carolina at Charlotte, Kannapolis, NC, USA.ORCID 0000-0003-0068-6703
Øyvind HelgelandMohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway.ORCID 0000-0002-5612-2985
Christopher FlatleyDepartment of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.ORCID 0000-0002-2225-0188
Frank GellerDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.ORCID 0000-0002-9238-3269
Moshe FinelDivision of Pharmaceutical Chemistry and Technology, Faculty of Pharmacy, University of Helsinki, Helsinki, Finland.
Mengqi ZhaoDepartment of Pharmaceutical Sciences, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA.ORCID 0009-0003-7345-1945
Philip LazarusDepartment of Pharmaceutical Sciences, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-2814-7461
Per MagnusCentre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.ORCID 0000-0002-6427-4735
Ole A AndreassenNORMENT Centre, University of Oslo, Oslo, Norway.ORCID 0000-0002-4461-3568
Pål R NjølstadMohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway.ORCID 0000-0003-0304-6728
Struan F A GrantCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-2025-5302
Bjarke FeenstraDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.ORCID 0000-0003-1478-649X
Louis J MugliaOffice of the President, Burroughs Wellcome Fund, Research Triangle Park, NC, USA.ORCID 0000-0002-0301-8770
Stefan JohanssonMohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway.ORCID 0000-0002-2298-7008
Ge ZhangDivision of Human Genetics, Center for the Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Bo JacobssonDepartment of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden. bo.jacobsson@obgyn.gu.se.ORCID 0000-0001-5079-2374

Funding

Integrating genomic studies of gestational duration and birth weight to understand maternal and fetal causes of adverse pregnancy outcomes and links with later diseasesR01HD101669 · NICHD · CINCINNATI CHILDRENS HOSP MED CTR · PI FREATHY, RACHEL, JACOBSSON, BO · 2021 to 2024
$2.1M
Burroughs Wellcome FundNICHD NIH HHS R01 HD101669Novo Nordisk FoundationVetenskapsrådet (Swedish Research Council) 2019-01004
6 · The paper itself

Abstract

Jaundice affects almost all neonates in their first days of life and is caused by the accumulation of bilirubin. Although the core biochemistry of bilirubin metabolism is well understood, it is not clear why some neonates experience more severe jaundice and require treatment with phototherapy. Here, we present the first genome-wide association study of neonatal jaundice to date in nearly 30,000 parent-offspring trios from Norway (cases ≈ 2000). The alternate allele of a common missense variant affecting the sequence of UGT1A4 reduces the susceptibility to jaundice five-fold, which replicated in separate cohorts of neonates of African American and European ancestries. eQTL colocalization analyses indicate that the association may be driven by regulation of UGT1A1 in the intestines, but not in the liver. Our results reveal marked differences in the genetic variants involved in neonatal jaundice compared to those regulating bilirubin levels in adults, suggesting distinct genetic mechanisms for the same biological pathways.

Indexed as

BilirubinGenome-Wide Association StudyGlucuronosyltransferaseJaundice, NeonatalAdultAllelesFemaleGenetic Predisposition to DiseaseHumansInfant, NewbornLiverMaleMutation, MissenseNorwayPolymorphism, Single NucleotideQuantitative Trait LociBilirubinGlucuronosyltransferaseUGT1A1 Enzyme

Identifiers

PMID39214992
PMCPMC11364559

What Socratic 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 Socratic graph.