Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.
作者信息
Bae Harold T, Baldwin Clinton T, Sebastiani Paola, Telen Marilyn J, Ashley-Koch Allison, Garrett Melanie, Hooper W Craig, Bean Christopher J, Debaun Michael R, Arking Dan E, Bhatnagar Pallav, Casella James F, Keefer Jeffrey Renn, Barron-Casella Emily, Gordeuk Victor, Kato Gregory J, Minniti Caterina, Taylor James, Campbell Andrew, Luchtman-Jones Lori, Hoppe Carolyn, Gladwin Mark T, Zhang Yingze, Steinberg Martin H
出版信息
Blood. 2012 Aug 30;120(9):1961-2. doi: 10.1182/blood-2012-06-432849.
Abstract
摘要
相似文献
1
Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.
Blood. 2012 Aug 30;120(9):1961-2. doi: 10.1182/blood-2012-06-432849.
2
Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon.
PLoS One. 2014 Mar 25;9(3):e92506. doi: 10.1371/journal.pone.0092506. eCollection 2014.
3
Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.
BMC Genomics. 2014 Feb 6;15:108. doi: 10.1186/1471-2164-15-108.
4
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11869-74. doi: 10.1073/pnas.0804799105. Epub 2008 Jul 30.
5
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.
J Clin Lab Anal. 2018 Jan;32(1). doi: 10.1002/jcla.22207. Epub 2017 Mar 23.
6
Association between BCL11A, HSB1L-MYB, and XmnI γG-158 (C/T) gene polymorphism and hemoglobin F level in Egyptian sickle cell disease patients.
Ann Hematol. 2020 Oct;99(10):2279-2288. doi: 10.1007/s00277-020-04187-z. Epub 2020 Aug 9.
7
BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.
Blood Cells Mol Dis. 2015 Mar;54(3):224-30. doi: 10.1016/j.bcmd.2015.01.001. Epub 2015 Jan 30.
8
BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.
Blood Cells Mol Dis. 2008 Nov-Dec;41(3):255-258. doi: 10.1016/j.bcmd.2008.06.007. Epub 2008 Aug 8.
9
DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil.
Blood Cells Mol Dis. 2014 Dec;53(4):176-9. doi: 10.1016/j.bcmd.2014.07.006. Epub 2014 Jul 30.
10
Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans.
Am J Hematol. 2012 Feb;87(2):217-9. doi: 10.1002/ajh.22221. Epub 2011 Dec 3.
引用本文的文献
1
FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries.
Nat Commun. 2025 Mar 1;16(1):2092. doi: 10.1038/s41467-025-57413-5.
2
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Adv Sci (Weinh). 2025 Mar;12(9):e2410992. doi: 10.1002/advs.202410992. Epub 2024 Dec 31.
3
Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.
Int J Mol Sci. 2024 Oct 23;25(21):11408. doi: 10.3390/ijms252111408.
4
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
JAMA Netw Open. 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484.
5
Prevalence and Impact of HMOX1 Polymorphism (rs2071746: A > T) in Indian Sickle Cell Disease Patients.
J Lab Physicians. 2023 Jun 19;15(4):583-589. doi: 10.1055/s-0043-1770068. eCollection 2023 Dec.
6
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.
Front Genet. 2022 Jul 25;13:920390. doi: 10.3389/fgene.2022.920390. eCollection 2022.
7
Fetal hemoglobin modulates neurocognitive performance in sickle cell anemia.
Curr Res Transl Med. 2022 Jul;70(3):103335. doi: 10.1016/j.retram.2022.103335. Epub 2022 Mar 15.
8
Childhood stroke.
Nat Rev Dis Primers. 2022 Feb 24;8(1):12. doi: 10.1038/s41572-022-00337-x.
9
A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.
Blood Adv. 2021 Jul 27;5(14):2839-2851. doi: 10.1182/bloodadvances.2021004634.
10
Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation.
Genome Med. 2021 Mar 10;13(1):41. doi: 10.1186/s13073-021-00857-3.
本文引用的文献
1
Genetic modifiers of sickle cell disease.
Am J Hematol. 2012 Aug;87(8):795-803. doi: 10.1002/ajh.23232. Epub 2012 May 28.
2
Methods for meta-analyses of genome-wide association studies: critical assessment of empirical evidence.
Am J Epidemiol. 2012 Apr 15;175(8):739-49. doi: 10.1093/aje/kwr385. Epub 2012 Mar 16.
3
Fetal hemoglobin in sickle cell anemia.
Blood. 2011 Jul 7;118(1):19-27. doi: 10.1182/blood-2011-03-325258. Epub 2011 Apr 13.
4
Missing heritability and strategies for finding the underlying causes of complex disease.
Nat Rev Genet. 2010 Jun;11(6):446-50. doi: 10.1038/nrg2809.
5
Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.
Blood. 2010 Mar 4;115(9):1815-22. doi: 10.1182/blood-2009-08-239517. Epub 2009 Dec 16.
6
The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells.
Blood. 2009 Aug 6;114(6):1254-62. doi: 10.1182/blood-2009-03-210146. Epub 2009 Jun 15.
Zotero 插件