A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15

S Menzel, C Garner, I Gut, F Matsuda, M Yamaguchi… - Nature …, 2007 - nature.com
S Menzel, C Garner, I Gut, F Matsuda, M Yamaguchi, S Heath, M Foglio, D Zelenika…
Nature genetics, 2007nature.com
F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that
accounts for substantial phenotypic diversity of sickle cell disease and β thalassemia. We
applied a genome-wide association mapping strategy to individuals with contrasting
extreme trait values and mapped a new F cell quantitative trait locus to BCL11A, which
encodes a zinc-finger protein, on chromosome 2p15. The 2p15 BCL11A quantitative trait
locus accounts for 15.1% of the trait variance.
Abstract
F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that accounts for substantial phenotypic diversity of sickle cell disease and β thalassemia. We applied a genome-wide association mapping strategy to individuals with contrasting extreme trait values and mapped a new F cell quantitative trait locus to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15. The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance.
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