Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-12

AUTHORS

Geneviève Galarneau, Cameron D Palmer, Vijay G Sankaran, Stuart H Orkin, Joel N Hirschhorn, Guillaume Lettre

ABSTRACT

We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB in HbF production. More... »

PAGES

1049

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.707

DOI

http://dx.doi.org/10.1038/ng.707

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004754761

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21057501


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