Hakon Hakonarson

Nov 20, 2024 | nature.com | Kimberley Burrows |Anni Heiskala |Mathilde Boissel |Yee-Ming Chan |Philippe Froguel |Hakon Hakonarson | +8 more

AbstractGenetic effects on changes in human traits over time are understudied and may have important pathophysiological impact. We propose a framework that enables data quality control, implements mixed models to evaluate trajectories of change in traits, and estimates phenotypes to identify age-varying genetic effects in GWAS.

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).

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.

Jul 11, 2023 | nature.com | Carolina Gracia-Diaz |Qian Yang |Natalia Padilla |Elisa A. Waxman |Dong Li |Paul Mark | +14 more

AbstractGenetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex.