期刊
NATURE GENETICS
卷 42, 期 12, 页码 1049-1051出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.707
关键词
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资金
- Fondation de l'Institut de Cardiologie de Montreal
- Doris Duke Charitable Foundation
- National Heart, Lung, and Blood Institute [N01-HV-48194]
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 beta-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.
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