Ontology highlight
ABSTRACT:
SUBMITTER: Bauer DE
PROVIDER: S-EPMC4018826 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Bauer Daniel E DE Kamran Sophia C SC Lessard Samuel S Xu Jian J Fujiwara Yuko Y Lin Carrie C Shao Zhen Z Canver Matthew C MC Smith Elenoe C EC Pinello Luca L Sabo Peter J PJ Vierstra Jeff J Voit Richard A RA Yuan Guo-Cheng GC Porteus Matthew H MH Stamatoyannopoulos John A JA Lettre Guillaume G Orkin Stuart H SH
Science (New York, N.Y.) 20131001 6155
Genome-wide association studies (GWASs) have ascertained numerous trait-associated common genetic variants, frequently localized to regulatory DNA. We found that common genetic variation at BCL11A associated with fetal hemoglobin (HbF) level lies in noncoding sequences decorated by an erythroid enhancer chromatin signature. Fine-mapping uncovers a motif-disrupting common variant associated with reduced transcription factor (TF) binding, modestly diminished BCL11A expression, and elevated HbF. Th ...[more]