Literature DB >> 18839276

Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E.

Riyaz A Pandit1,2, Saovaros Svasti1,3, Orapan Sripichai1,3, Thongperm Munkongdee1,4, Kanokporn Triwitayakorn2, Pranee Winichagoon1, Suthat Fucharoen1,4, Chayanon Peerapittayamongkol5.   

Abstract

Increase in fetal hemoglobin (Hb F) reduces globin chain imbalance in beta-thalassemia, consequently improving symptoms. QTL mapping together with previous genome-wide association study involving approximately 110,000 gene-based SNPs in mild and severe beta(0)-thalassemia/Hb E patients revealed SNPs in HBS1L significantly associated with severity and Hb F levels. Given its potential as binding site for transcription factor activator protein 4, HBS1L exon 1 C32T polymorphism was genotyped in 455 cases, providing for the first time evidence that C allele is associated with elevated Hb F level among beta(0)-thalassemia/Hb E patients with XmnI-(G)gamma-/-and XmnI-(G)gamma+/-polymorphisms.

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18839276     DOI： 10.1007/s12185-008-0167-3

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


  20 in total

1.  Estimating transcription factor bindability on DNA.

Authors:  T Tsunoda; T Takagi
Journal:  Bioinformatics       Date:  1999 Jul-Aug       Impact factor: 6.937

2.  Functional cooperation between multiple regulatory elements in the untranslated exon 1 stimulates the basal transcription of the human GnRH-II gene.

Authors:  Chi Keung Cheng; Ruby L C Hoo; Billy K C Chow; Peter C K Leung
Journal:  Mol Endocrinol       Date:  2003-03-27

3.  Transcription factor AP-4 contains multiple dimerization domains that regulate dimer specificity.

Authors:  Y F Hu; B Lüscher; A Admon; N Mermod; R Tjian
Journal:  Genes Dev       Date:  1990-10       Impact factor: 11.361

4.  Pathophysiology of beta thalassemia--a guide to molecular therapies.

Authors:  Swee Lay Thein
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2005

5.  Nondeletional type of hereditary persistence of fetal haemoglobin: molecular characterization of three unrelated Thai HPFH.

Authors:  P Winichagoon; S Fucharoen; P Wilairat; K Chihara; Y Fukumaki
Journal:  Br J Haematol       Date:  1994-08       Impact factor: 6.998

6.  Exon-I is involved in positive as well as negative regulation of human angiotensinogen gene expression.

Authors:  Y Cui; C S Narayanan; J Zhou; A Kumar
Journal:  Gene       Date:  1998-12-11       Impact factor: 3.688

7.  Why are hemoglobin F levels increased in HbE/beta thalassemia?

Authors:  D C Rees; J B Porter; J B Clegg; D J Weatherall
Journal:  Blood       Date:  1999-11-01       Impact factor: 22.113

Review 8.  Clinical and hematologic aspects of hemoglobin E beta-thalassemia.

Authors:  S Fucharoen; P Winichagoon
Journal:  Curr Opin Hematol       Date:  2000-03       Impact factor: 3.284

9.  Genetic influences on F cells and other hematologic variables: a twin heritability study.

Authors:  C Garner; T Tatu; J E Reittie; T Littlewood; J Darley; S Cervino; M Farrall; P Kelly; T D Spector; S L Thein
Journal:  Blood       Date:  2000-01-01       Impact factor: 22.113

10.  The product of the mammalian orthologue of the Saccharomyces cerevisiae HBS1 gene is phylogenetically related to eukaryotic release factor 3 (eRF3) but does not carry eRF3-like activity.

Authors:  C Wallrapp; S B Verrier; G Zhouravleva; H Philippe; M Philippe; T M Gress; O Jean-Jean
Journal:  FEBS Lett       Date:  1998-12-04       Impact factor: 4.124
View more
  8 in total

1.  SRSF1 RNA Recognition Motifs Are Strong Inhibitors of HIV-1 Replication.

Authors:  Sean Paz; Michael L Lu; Hiroshi Takata; Lydie Trautmann; Massimo Caputi
Journal:  J Virol       Date:  2015-04-08       Impact factor: 5.103

2.  Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study.

Authors:  Richard Sherva; Orapan Sripichai; Kenneth Abel; Qianli Ma; Johanna Whitacre; Vach Angkachatchai; Wattanan Makarasara; Pranee Winichagoon; Saovaros Svasti; Suthat Fucharoen; Andreas Braun; Lindsay A Farrer
Journal:  BMC Med Genet       Date:  2010-03-30       Impact factor: 2.103

3.  2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio.

Authors:  Bochao Danae Lin; Elena Carnero-Montoro; Jordana T Bell; Dorret I Boomsma; Eco J de Geus; Rick Jansen; Cornelis Kluft; Massimo Mangino; Brenda Penninx; Tim D Spector; Gonneke Willemsen; Jouke-Jan Hottenga
Journal:  J Hum Genet       Date:  2017-08-03       Impact factor: 3.172

Review 4.  Hb E/beta-thalassaemia: a common & clinically diverse disorder.

Authors:  Nancy F Olivieri; Zahra Pakbaz; Elliott Vichinsky
Journal:  Indian J Med Res       Date:  2011-10       Impact factor: 2.375

5.  A machine learning heuristic to identify biologically relevant and minimal biomarker panels from omics data.

Authors:  Anna L Swan; Dov J Stekel; Charlie Hodgman; David Allaway; Mohammed H Alqahtani; Ali Mobasheri; Jaume Bacardit
Journal:  BMC Genomics       Date:  2015-01-15       Impact factor: 3.969

6.  HIV-1 transcription is regulated by splicing factor SRSF1.

Authors:  Sean Paz; Adrian R Krainer; Massimo Caputi
Journal:  Nucleic Acids Res       Date:  2014-12-16       Impact factor: 16.971

Review 7.  Single Nucleotide Polymorphisms in XMN1-HBG2, HBS1L-MYB, and BCL11A and Their Relation to High Fetal Hemoglobin Levels That Alleviate Anemia.

Authors:  Siti Nur Nabeela A'ifah Mohammad; Salfarina Iberahim; Wan Suriana Wan Ab Rahman; Mohd Nazri Hassan; Hisham Atan Edinur; Maryam Azlan; Zefarina Zulkafli
Journal:  Diagnostics (Basel)       Date:  2022-06-02

8.  Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.

Authors:  Liron Ganel; Lei Chen; Ryan Christ; Jagadish Vangipurapu; Erica Young; Indraniel Das; Krishna Kanchi; David Larson; Allison Regier; Haley Abel; Chul Joo Kang; Alexandra Scott; Aki Havulinna; Charleston W K Chiang; Susan Service; Nelson Freimer; Aarno Palotie; Samuli Ripatti; Johanna Kuusisto; Michael Boehnke; Markku Laakso; Adam Locke; Nathan O Stitziel; Ira M Hall
Journal:  Hum Genomics       Date:  2021-06-07       Impact factor: 6.481
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.