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
Citations
More filters
Journal ArticleDOI
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
More filters
Journal ArticleDOI
A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E
Manit Nuinoon,Wattanan Makarasara,Taisei Mushiroda,Iswari Setianingsih,Pustika Amalia Wahidiyat,Orapan Sripichai,Natsuhiko Kumasaka,Atsushi Takahashi,Saovaros Svasti,Thongperm Munkongdee,Surakameth Mahasirimongkol,Chayanon Peerapittayamongkol,Vip Viprakasit,Naoyuki Kamatani,Pranee Winichagoon,Michiaki Kubo,Yusuke Nakamura,Suthat Fucharoen +17 more
TL;DR: It is revealed that all the three reported loci and the α-globin gene locus are the best and common predictors of the disease severity in β-thalassemia.
Journal ArticleDOI
cMYB is involved in the regulation of fetal hemoglobin production in adults
Jie Jiang,Jie Jiang,Steve Best,Stephan Menzel,Nicholas Silver,Nicholas Silver,Mei I Lai,Mei I Lai,Gabriela L. Surdulescu,Gabriela L. Surdulescu,Tim D. Spector,Swee Lay Thein +11 more
TL;DR: Observations suggest that differences in the intrinsic levels of cMYB may account for some of the variation in adult HbF levels, and the possible mechanism of c MYB influencing gamma- to beta-globin switching is discussed.
Journal Article
cMYB is involved in the regulation of fetal hemoglobin production in adults. Commentary
Susan P. Perrine,Jie Jiang,Steve Best,Stephan Menzel,Nicholas Silver,Mei I Lai,Gabriela L. Surdulescu,Tim D. Spector,Swee Lay Thein +8 more
TL;DR: In this article, a quantitative trait locus (QTL) controlling HbF levels has been mapped to chromosome 6q23 in an Asian-Indian kindred with β thalassemia and heterocellular hereditary persistence of fetal hemoglobin (HPFH).
Journal ArticleDOI
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification
TL;DR: Sequence analysis of the breakpoint regions of the Chinese deletion and the Turkish rearrangement indicates that, in each case, the mutation is likely to have arisen from a single origin, supported by the evident geographical clustering of the various deletions described here.
Journal ArticleDOI
A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
John J. Farrell,Richard Sherva,Zhi-yi Chen,Hong-Yuan Luo,Benjamin F. Chu,Shau Yin Ha,Chi Kong Li,Acw Lee,Rever Chak-ho Li,Chi Keung Li,Hui Leung Yuen,Jason C. C. So,Edmond S. K. Ma,Li Chong Chan,Vivian Chan,Paola Sebastiani,Lindsay A. Farrer,Clinton T. Baldwin,Martin H. Steinberg,David H.K. Chui +19 more
TL;DR: By genome-wide association study, it is confirmed that HBS1L-MYB intergenic polymorphisms (HMIP) and BCL11A polymorphisms are highly associated with HbF in Chinese β-thalassemia heterozygotes and 3-bp deletion polymorphism is probably the most significant functional motif accounting for HMIP modulation of Hbf in all 3 populations.
Related Papers (5)
A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E
Manit Nuinoon,Wattanan Makarasara,Taisei Mushiroda,Iswari Setianingsih,Pustika Amalia Wahidiyat,Orapan Sripichai,Natsuhiko Kumasaka,Atsushi Takahashi,Saovaros Svasti,Thongperm Munkongdee,Surakameth Mahasirimongkol,Chayanon Peerapittayamongkol,Vip Viprakasit,Naoyuki Kamatani,Pranee Winichagoon,Michiaki Kubo,Yusuke Nakamura,Suthat Fucharoen +17 more