Genetic study links BACH2 and NRF2 to fetal haemoglobin activation
A multi-ancestry genome-wide association study of 28,279 people yielded 91 conditionally independent associations with fetal haemoglobin levels across 12 genomic regions, the authors report in Nature. The variant rs1010474-C lowers BACH2 expression. Inhibiting BACH2 directly also raised fetal haemoglobin expression, according to the paper, and loss of BACH2 let NRF2 occupy more chromatin at the gamma-globin genes. Selective edits to overlapping BACH2 and NRF2 motifs activated or repressed gamma-globin, independently of BCL11A.
Teams developing fetal haemoglobin therapies have new regulators to study. The findings are genetic and mechanistic. They are not a treatment.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].