Oyesola O Ojewunmi, Titilope A Adeyemo, Ajoke I Oyetunji, Bassey Inyang, Afolashade Akinrindoye, Baraka S Mkumbe, Kate Gardner, Helen Rooks, John Brewin, Hamel Patel, Sang Hyuck Lee, Raymond Chung, Sara Rashkin, Guolian Kang, Reuben Chianumba, Raphael Sangeda, Liberata Mwita, Hezekiah Isa, Uche-Nnebe Agumadu, Rosemary Ekong, Jamilu A Faruk, Bello Y Jamoh, Niyi M Adebiyi, Ismail A Umar, Abdulaziz Hassan, Christopher Grace, Anuj Goel, Baba P D Inusa, Mario Falchi, Siana Nkya, Julie Makani, Hafsat R Ahmad, Obiageli Nnodu, John Strouboulis, Stephan Menzel
The clinical severity of sickle cell disease (SCD) is strongly influenced by the level of fetal haemoglobin (HbF) persistent in each patient. Three major HbF loci (BCL11A, HBS1L-MYB, and Xmn1-HBG2) have been reported, but a considerable hidden heritability remains. We conducted a genome-wide association study for HbF levels in 1006 Nigerian patients with SCD (HbSS/HbSβ0), followed by a replication and meta-analysis exercise in four independent SCD cohorts (3,582 patients). To dissect association signals at the major loci, we performed stepwise conditional and haplotype association analyses and included public functional annotation datasets...
February 10, 2024: Human Molecular Genetics