作者
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 PD Inusa, Mario Falchi, Siana Nkya, Julie Makani, Hafsat R Ahmad, Obiageli Nnodu, John Strouboulis, Stephan Menzel
发表日期
2024/5/15
期刊
Human Molecular Genetics
卷号
33
期号
10
页码范围
919-929
出版商
Oxford University Press
简介
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. Association signals were detected for BCL11A (lead SNP rs6706648, β = −0.39, P = 4.96 × 10−34) and HBS1L-MYB (lead SNP rs61028892, β = 0.73, P = 1.18 × 10−9), whereas the variant allele for Xmn1-HBG2 was found to be very rare. In addition …
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OO Ojewunmi, TA Adeyemo, AI Oyetunji, B Inyang… - Human Molecular Genetics, 2024