Pål R. Njølstad

Aug 29, 2024 | nature.com | Pol Sole-Navais |Xiaoping Wu |Marc Vaudel |Abigail L. LaBella |Øyvind Helgeland |Christopher Flatley | +9 more

AbstractJaundice 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).

Apr 8, 2024 | nature.com | Marta R. Moksnes |Brooke Wolford |Laurent Thomas |Humaira Rasheed |Anne Lise Brantsæter |Wei Zhou | +9 more

AbstractTrace elements are important for human health but may exert toxic or adverse effects. Mechanisms of uptake, distribution, metabolism, and excretion are partly under genetic control but have not yet been extensively mapped. Here we report a comprehensive multi-element genome-wide association study of 57 essential and non-essential trace elements.

Feb 8, 2024 | nature.com | Øyvind Helgeland |Marc Vaudel |Pol Sole-Navais |Christopher Flatley |Julius Juodakis |Jonas Bacelis | +8 more

Correction to: Nature Metabolism https://doi.org/10.1038/s42255-022-00549-1, published online 21 March 2022. In the version of the article initially published, there were errors in Supplementary Table 1 where the values in the age column were incorrectly ordered (the values for Q3 were substituted for the values of Q1). The corrected Supplementary Table 1 has now been uploaded. This was an error in formatting and has no implications for the analyses, results or conclusions of the paper.

Oct 4, 2023 | nature.com | Rinki Murphy |Sarah Flanagan |Pål R. Njølstad |Kristin A. Maloney

AbstractMonogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and (2) methods for genetic testing for monogenic diabetes, summarized resources for (3) considering a gene or (4) variant as causal for monogenic diabetes, provided expert recommendations for (5) reporting of results; and reviewed (6) next steps after monogenic diabetes diagnosis and (7) challenges in precision medicine field.

Oct 4, 2023 | nature.com | Ashley Budu-Aggrey |Anna Kilanowski |Maria K Sobczyk |Suyash Shringarpure |Ruth E. Mitchell |Kadri Reis | +68 more

AbstractAtopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data.