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Cited by 561

The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.

DNA polymorphisms at the BCL11A , HBS1L-MYB , and β- globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

Open access
Lettre, Guillaume, Sankaran, Vijay G., Bezerra, Marcos André C., Araújo, Aderson S., Uda, Manuela, Sanna, Serena, Cao, Antonio, Schlessinger, David, Costa, Fernando F., Hirschhorn, Joel N., Orkin, Stuart H.·2008·Proceedings of the National Academy of Sciences
DOI 10.1073/pnas.0804799105
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Abstract

Sickle cell disease (SCD) is a debilitating monogenic blood disorder with a highly variable phenotype characterized by severe pain crises, acute clinical events, and early mortality. Interindividual variation in fetal hemoglobin (HbF) expression is a known and potentially heritable modifier of SCD severity. High HbF levels are correlated with reduced morbidity and mortality. Common single nucleotide polymorphisms (SNPs) at the BCL11A and HBS1L-MYB loci have been implicated previously in HbF level variation in nonanemic European populations. We recently demonstrated an association between a BCL11A SNP and HbF levels in one SCD cohort [Uda M, et al. (2008) Proc Natl Acad Sci USA 105:1620–1625]. Here, we genotyped additional BCL11A SNPs, HBS1L-MYB SNPs, and an SNP upstream of G γ- globin ( HBG2 ; the Xmn I polymorphism), in two independent SCD cohorts: the African American Cooperative Study of Sickle Cell Disease (CSSCD) and an SCD cohort from Brazil. We studied the effect of these SNPs on HbF levels and on a measure of SCD-related morbidity (pain crisis rate). We strongly replicated the association between these SNPs and HbF level variation (in the CSSCD, P values range from 0.04 to 2 × 10 −42 ). Together, common SNPs at the BCL11A , HBS1L-MYB , and β- globin ( HBB ) loci account for >20% of the variation in HbF levels in SCD patients. We also have shown that HbF-associated SNPs associate with pain crisis rate in SCD patients. These results provide a clear example of inherited common sequence variants modifying the severity of a monogenic disease.

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Metadata

Authors
Lettre, G., Sankaran, V. G., Bezerra, M. A. C., Araújo, A. S., Uda, M., Sanna, S., Cao, A., Schlessinger, D., Costa, F. F., Hirschhorn, J. N., & Orkin, S. H.
Venue
Proceedings of the National Academy of Sciences
Publisher
Proceedings of the National Academy of Sciences
Published
2008-08-19
Volume
105
Issue
33
Pages
11869-11874
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
DOI
10.1073/pnas.0804799105
OpenAlex
W2070879341
Cited by
561
References
33
FWCI
15.37
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: DNA polymorphisms at the BCL11A , HBS1L-MYB , and β- globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. https://app.cochat.ai/papers/10.1073/pnas.0804799105
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Lettre, G., Sankaran, V. G., Bezerra, M. A. C., Araújo, A. S., Uda, M., Sanna, S., Cao, A., Schlessinger, D., Costa, F. F., Hirschhorn, J. N., & Orkin, S. H. (2008). DNA polymorphisms at the BCL11A , HBS1L-MYB , and β- globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0804799105

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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