Literature DB >> 21057501

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.

Geneviève Galarneau1, Cameron D Palmer, Vijay G Sankaran, Stuart H Orkin, Joel N Hirschhorn, Guillaume Lettre.   

Abstract

We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB in HbF production.

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Year:  2010        PMID： 21057501      PMCID： PMC3740938          DOI： 10.1038/ng.707

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  14 in total

1.  Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.

Authors:  Nadia Solovieff; Jacqueline N Milton; Stephen W Hartley; Richard Sherva; Paola Sebastiani; Daniel A Dworkis; Elizabeth S Klings; Lindsay A Farrer; Melanie E Garrett; Allison Ashley-Koch; Marilyn J Telen; Supan Fucharoen; Shau Yin Ha; Chi-Kong Li; David H K Chui; Clinton T Baldwin; Martin H Steinberg
Journal:  Blood       Date:  2009-12-16       Impact factor: 22.113

2.  Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients.

Authors:  D Labie; J Pagnier; C Lapoumeroulie; F Rouabhi; O Dunda-Belkhodja; P Chardin; C Beldjord; H Wajcman; M E Fabry; R L Nagel
Journal:  Proc Natl Acad Sci U S A       Date:  1985-04       Impact factor: 11.205

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

Authors:  Guillaume Lettre; Vijay G Sankaran; Marcos André C Bezerra; Aderson S Araújo; Manuela Uda; Serena Sanna; Antonio Cao; David Schlessinger; Fernando F Costa; Joel N Hirschhorn; Stuart H Orkin
Journal:  Proc Natl Acad Sci U S A       Date:  2008-07-30       Impact factor: 11.205

4.  Developmental and species-divergent globin switching are driven by BCL11A.

Authors:  Vijay G Sankaran; Jian Xu; Tobias Ragoczy; Gregory C Ippolito; Carl R Walkley; Shanna D Maika; Yuko Fujiwara; Masafumi Ito; Mark Groudine; M A Bender; Philip W Tucker; Stuart H Orkin
Journal:  Nature       Date:  2009-08-05       Impact factor: 49.962

Review 5.  Finding the missing heritability of complex diseases.

Authors:  Teri A Manolio; Francis S Collins; Nancy J Cox; David B Goldstein; Lucia A Hindorff; David J Hunter; Mark I McCarthy; Erin M Ramos; Lon R Cardon; Aravinda Chakravarti; Judy H Cho; Alan E Guttmacher; Augustine Kong; Leonid Kruglyak; Elaine Mardis; Charles N Rotimi; Montgomery Slatkin; David Valle; Alice S Whittemore; Michael Boehnke; Andrew G Clark; Evan E Eichler; Greg Gibson; Jonathan L Haines; Trudy F C Mackay; Steven A McCarroll; Peter M Visscher
Journal:  Nature       Date:  2009-10-08       Impact factor: 49.962

6.  Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

Authors:  Manuela Uda; Renzo Galanello; Serena Sanna; Guillaume Lettre; Vijay G Sankaran; Weimin Chen; Gianluca Usala; Fabio Busonero; Andrea Maschio; Giuseppe Albai; Maria Grazia Piras; Natascia Sestu; Sandra Lai; Mariano Dei; Antonella Mulas; Laura Crisponi; Silvia Naitza; Isadora Asunis; Manila Deiana; Ramaiah Nagaraja; Lucia Perseu; Stefania Satta; Maria Dolores Cipollina; Carla Sollaino; Paolo Moi; Joel N Hirschhorn; Stuart H Orkin; Gonçalo R Abecasis; David Schlessinger; Antonio Cao
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-01       Impact factor: 11.205

7.  A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

Authors:  Stephan Menzel; Chad Garner; Ivo Gut; Fumihiko Matsuda; Masao Yamaguchi; Simon Heath; Mario Foglio; Diana Zelenika; Anne Boland; Helen Rooks; Steve Best; Tim D Spector; Martin Farrall; Mark Lathrop; Swee Lay Thein
Journal:  Nat Genet       Date:  2007-09-02       Impact factor: 38.330

8.  Heritability of cardiovascular and personality traits in 6,148 Sardinians.

Authors:  Giuseppe Pilia; Wei-Min Chen; Angelo Scuteri; Marco Orrú; Giuseppe Albai; Mariano Dei; Sandra Lai; Gianluca Usala; Monica Lai; Paola Loi; Cinzia Mameli; Loredana Vacca; Manila Deiana; Nazario Olla; Marco Masala; Antonio Cao; Samer S Najjar; Antonio Terracciano; Timur Nedorezov; Alexei Sharov; Alan B Zonderman; Gonçalo R Abecasis; Paul Costa; Edward Lakatta; David Schlessinger
Journal:  PLoS Genet       Date:  2006-07-10       Impact factor: 5.917

9.  Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.

Authors:  Swee Lay Thein; Stephan Menzel; Xu Peng; Steve Best; Jie Jiang; James Close; Nicholas Silver; Ageliki Gerovasilli; Chen Ping; Masao Yamaguchi; Karin Wahlberg; Pinar Ulug; Tim D Spector; Chad Garner; Fumihiko Matsuda; Martin Farrall; Mark Lathrop
Journal:  Proc Natl Acad Sci U S A       Date:  2007-06-25       Impact factor: 11.205

10.  Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.

Authors:  Sergey Nejentsev; Neil Walker; David Riches; Michael Egholm; John A Todd
Journal:  Science       Date:  2009-03-05       Impact factor: 47.728
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  117 in total

1.  Beta-thalassemia: from genotype to phenotype.

Authors:  Fabrice Danjou; Franco Anni; Renzo Galanello
Journal:  Haematologica       Date:  2011-11       Impact factor: 9.941

2.  Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.

Authors:  Fabrice Danjou; Franco Anni; Lucia Perseu; Stefania Satta; Carlo Dessì; Maria Eliana Lai; Paolo Fortina; Marcella Devoto; Renzo Galanello
Journal:  Haematologica       Date:  2012-01-22       Impact factor: 9.941

Review 3.  Genetic modifiers of sickle cell disease.

Authors:  Martin H Steinberg; Paola Sebastiani
Journal:  Am J Hematol       Date:  2012-05-28       Impact factor: 10.047

Review 4.  Applications of high-throughput DNA sequencing to benign hematology.

Authors:  Vijay G Sankaran; Patrick G Gallagher
Journal:  Blood       Date:  2013-09-10       Impact factor: 22.113

5.  Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries.

Authors:  Mélissa Beaudoin; Rajat M Gupta; Hong-Hee Won; Ken Sin Lo; Ron Do; Christopher A Henderson; Claire Lavoie-St-Amour; Simon Langlois; Daniel Rivas; Stephanie Lehoux; Sekar Kathiresan; Jean-Claude Tardif; Kiran Musunuru; Guillaume Lettre
Journal:  Arterioscler Thromb Vasc Biol       Date:  2015-04-02       Impact factor: 8.311

Review 6.  Fetal hemoglobin in sickle cell anemia.

Authors:  Idowu Akinsheye; Abdulrahman Alsultan; Nadia Solovieff; Duyen Ngo; Clinton T Baldwin; Paola Sebastiani; David H K Chui; Martin H Steinberg
Journal:  Blood       Date:  2011-04-13       Impact factor: 22.113

7.  BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

Authors:  Anindita Basak; Miroslava Hancarova; Jacob C Ulirsch; Tugce B Balci; Marie Trkova; Michal Pelisek; Marketa Vlckova; Katerina Muzikova; Jaroslav Cermak; Jan Trka; David A Dyment; Stuart H Orkin; Mark J Daly; Zdenek Sedlacek; Vijay G Sankaran
Journal:  J Clin Invest       Date:  2015-05-04       Impact factor: 14.808

8.  Metformin induces FOXO3-dependent fetal hemoglobin production in human primary erythroid cells.

Authors:  Yankai Zhang; Alireza Paikari; Pavel Sumazin; Carly C Ginter Summarell; Jacy R Crosby; Eric Boerwinkle; Mitchell J Weiss; Vivien A Sheehan
Journal:  Blood       Date:  2018-06-08       Impact factor: 22.113

9.  A genetic score for the prediction of beta-thalassemia severity.

Authors:  Fabrice Danjou; Marcella Francavilla; Franco Anni; Stefania Satta; Franca-Rosa Demartis; Lucia Perseu; Matteo Manca; Maria Carla Sollaino; Laura Manunza; Elisabetta Mereu; Giuseppe Marceddu; Serge Pissard; Philippe Joly; Isabelle Thuret; Raffaella Origa; Joseph Borg; Gian Luca Forni; Antonio Piga; Maria Eliana Lai; Catherine Badens; Paolo Moi; Renzo Galanello
Journal:  Haematologica       Date:  2014-12-05       Impact factor: 9.941

10.  Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization.

Authors:  Daniel E Sabath; Michael A Bender; Vijay G Sankaran; Esther Vamos; Alex Kentsis; Hye-Son Yi; Harvey A Greisman
Journal:  J Mol Diagn       Date:  2015-11-21       Impact factor: 5.568
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