Liam D Cato, Rick Li, Henry Y Lu, Fulong Yu, Mariel Wissman, Baraka S Mkumbe, Supachai Ekwattanakit, Patrick Deelen, Liberata Mwita, Raphael Zozimus Sangeda, Thidarat Suksangpleng, Suchada Riolueang, Paola G Bronson, Dirk S Paul, Emily Kawabata, William J Astle, Francois Aguet, Kristin Ardlie, Aitzkoa Lopez de Lapuente Portilla, Guolian Kang, Yingze Zhang, Seyed Mehdi Nouraie, Victor R Gordeuk, Mark T Gladwin, Melanie E Garrett, Allison Ashley-Koch, Marilyn J Telen, Brian Custer, Shannon Kelly, Carla Dinardo, Ester Cerdeira Sabino, Paula Loureiro, Anna Barbara Carneiro-Proietti, Claudia Maximo, Adriana Mendez, Angelika Hammerer-Lercher, Vivien A Sheehan, Mitchell J Weiss, Lude Franke, Bjorn Nilsson, Adam S Butterworth, Vip Viprakasit, Siana Nkya, Vijay G Sankaran
Human genetic variation has enabled the identification of several key regulators of fetal-to-adult hemoglobin switching, including BCL11A, resulting in therapeutic advances. However, despite the progress made, limited further insights have been obtained to provide a fuller accounting of how genetic variation contributes to the global mechanisms of fetal hemoglobin (HbF) gene regulation. Here, we have conducted a multi-ancestry genome-wide association study of 28,279 individuals from several cohorts spanning 5 continents to define the architecture of human genetic variation impacting HbF...
March 28, 2023: medRxiv