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, Moshe Finel, Mengqi Zhao, Philip Lazarus, Hakon Hakonarson, Per Magnus, Ole A. Andreassen, Pål R. Njølstad, Struan F. A. Grant, Bjarke Feenstra, Louis J. Muglia, Stefan Johansson, Ge Zhang and Bo Jacobsson ()
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Pol Solé-Navais: University of Gothenburg
Julius Juodakis: University of Gothenburg
Karin Ytterberg: University of Gothenburg
Xiaoping Wu: Statens Serum Institut
Jonathan P. Bradfield: Children’s Hospital of Philadelphia
Marc Vaudel: University of Bergen
Abigail L. LaBella: University of North Carolina at Charlotte
Øyvind Helgeland: University of Bergen
Christopher Flatley: University of Gothenburg
Frank Geller: Statens Serum Institut
Moshe Finel: University of Helsinki
Mengqi Zhao: Washington State University
Philip Lazarus: Washington State University
Hakon Hakonarson: Children’s Hospital of Philadelphia
Per Magnus: Norwegian Institute of Public Health
Ole A. Andreassen: University of Oslo
Pål R. Njølstad: University of Bergen
Struan F. A. Grant: Children’s Hospital of Philadelphia
Bjarke Feenstra: Statens Serum Institut
Louis J. Muglia: Burroughs Wellcome Fund
Stefan Johansson: University of Bergen
Ge Zhang: Cincinnati Children’s Hospital Medical Center
Bo Jacobsson: University of Gothenburg

Nature Communications, 2024, vol. 15, issue 1, 1-11

Abstract: 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.

Date: 2024
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DOI: 10.1038/s41467-024-51947-w

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