Journal ArticleDOI
Influence of BCL11A, HBS1L-MYB, HBBP1 single nucleotide polymorphisms and the HBG2 XmnI polymorphism on Hb F levels
Papai Roy,Gargi Bhattacharya,Amrita Mandal,Uma B. Dasgupta,Debasis Banerjee,Sarmila Chandra,Manikanchan Das +6 more
TLDR
In search of genetic alterations responsible for high fetal hemoglobin (Hb F) phenotypes in the population of eastern India, 91 probands were screened for four polymorphisms by sequencing and/or restriction fragment length polymorphism (RFLP) analysis and the XmnI polymorphism showed the strongest association.Abstract:
In search of genetic alterations responsible for high fetal hemoglobin (Hb F) phenotypes in the population of eastern India, 91 probands were screened for four polymorphisms by sequencing and/or restriction fragment length polymorphism (RFLP) analysis. These are the A>G allele on the rs4895441 locus in the intergenic region between HBS1L and MYB on chromosome 6, the G>A allele on the rs4671393 locus on chromosome 2 (BCL11A gene), the A>C allele on the rs2071348 (HBBP1 gene) and the XmnI polymorphism (rs7482144, -158 position of HBG2) on chromosome 11. We found a significant association (p = 0.002 and 0.0013) of Hb F levels with rs2071348 and rs4895441, respectively. However, the polymorphism rs4671393 gene did not show significant association with Hb F levels (p = 0.0655). As is well known, the XmnI polymorphism (p <0.0001) showed the strongest association.read more
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Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry
Gaurav Thareja,Sumi Elsa John,Prashantha Hebbar,Kazem Behbehani,Thangavel Alphonse Thanaraj,Osama Alsmadi +5 more
TL;DR: The resource provides a starting point for designing large-scale genetic studies in Peninsula including Kuwait, and Persian population and positions the sequenced genome between Asian and European genomes in congruence with geographical location of the region.
Journal ArticleDOI
Decitabine improves outcomes in older patients with acute myeloid leukemia and higher blast counts.
Tapan M. Kadia,Xavier Thomas,Anna Dmoszynska,Agnieszka Wierzbowska,Mark D. Minden,Christopher Arthur,Jacques Delaunay,Farhad Ravandi,Hagop M. Kantarjian +8 more
TL;DR: Hypomethylating agents such 5-azacytidine (AZA) and decitabine (DAC) have been used as “lower-intensity” therapy in older patients with AML and may be associated with outcomes similar to intensive therapy.
Journal ArticleDOI
2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio
Bochao Danae Lin,Elena Carnero-Montoro,Jordana T. Bell,Dorret I. Boomsma,Eco J. C. de Geus,Rick Jansen,Cornelis Kluft,Massimo Mangino,Massimo Mangino,Brenda W.J.H. Penninx,Tim D. Spector,Gonneke Willemsen,Jouke-Jan Hottenga +12 more
TL;DR: It is established that two important biomarkers have a significant heritable SNP component, and a new genome-wide significant locus is identified on the HBS1L-MYB intergenic region for PLR, which replicated in a sample of 2538 British twins.
Journal ArticleDOI
Variability of hemoglobin F expression in hemoglobin EE disease: hematological and molecular analysis.
Naruwat Pakdee,Supawadee Yamsri,Goonnapa Fucharoen,Kanokwan Sanchaisuriya,Serge Pissard,Supan Fucharoen +5 more
TL;DR: Examining multiple single nucleotide polymorphisms in the β-globin gene cluster, BCL11A and HBS1L-MYB genes determined their associations with Hb F levels in Hb E disorder and demonstrated that multiple genetic modifying factors including T allele of (G)γ-XmnI polymorphism, G allele of HBS 1L- MYB, and C allele of BCL 11A are associated with increased HbF.
Journal ArticleDOI
Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia
Rahyssa Rodrigues Sales,André Rolim Belisário,Gabriela Faria,Fabíola Gomes Mendes,Marcelo R. Luizon,Marcos Borato Viana +5 more
TL;DR: Patients carrying HbF-boosting alleles of BCL11A and HMIP-2 were associated with milder clinical phenotypes, and higher HBF concentration may underlie this effect.
References
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Journal ArticleDOI
Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion
Fabrice Danjou,Franco Anni,Lucia Perseu,Stefania Satta,Carlo Dessì,Maria Eliana Lai,Paolo Fortina,Marcella Devoto,Renzo Galanello +8 more
TL;DR: This detailed analysis clarifies the impact of genetic modifiers on the clinical severity of the disease, measured by time to first transfusion, by determining their relative contributions in a homogeneous cohort of β0-thalassemia patients.
Journal ArticleDOI
The XmnI Gγ polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 β-thalassemia intermedia patients
Thi Khanh Tien Nguyen,Philippe Joly,Philippe Joly,Claire Bardel,Mustapha Moulsma,Nathalie Bonello-Palot,Alain Francina +6 more
TL;DR: It is suggested that the BCL11A and HBS1L-MYB loci have a minor effect on HbF level compared to the XmnI QTL in beta-thalassemia intermedia patients.
Journal ArticleDOI
Major beta-globin gene mutations in eastern India and their associated haplotypes.
Aditi Bandyopadhyay,Sanmay Bandyopadhyay,Manju Dutta Chowdhury,Uma B. Dasgupta,Uma B. Dasgupta +4 more
TL;DR: Haplotype analysis revealed a very strong linkage disequilibrium of IVS-1 pos 5 (G–C) with one particular haplotype and HbE was found to be associated with two major haplotype, which is the same as that found in the African population.
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