Brief Communication abstract


Nature Genetics 39, 1197 - 1199 (2007)
Published online: 2 September 2007 | doi:10.1038/ng2108

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

Stephan Menzel1, Chad Garner2, Ivo Gut3, Fumihiko Matsuda3, Masao Yamaguchi3, Simon Heath3, Mario Foglio3, Diana Zelenika3, Anne Boland3, Helen Rooks1, Steve Best1, Tim D Spector4, Martin Farrall5, Mark Lathrop3 & Swee Lay Thein1,6

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F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that accounts for substantial phenotypic diversity of sickle cell disease and beta thalassemia. We applied a genome-wide association mapping strategy to individuals with contrasting extreme trait values and mapped a new F cell quantitative trait locus to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15. The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance.

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  1. King's College London School of Medicine, Division of Gene and Cell Based Therapy, King's Denmark Hill Campus, London SE5 9PJ, UK.
  2. University of California at Irvine, Epidemiology Division, Department of Medicine, Irvine, California 92697-7550, USA.
  3. Centre National de Génotypage, Institut Génomique, Commissariat à l'Energie Atomique, 91006 Evry, France.
  4. King's College London School of Medicine, Division of Genetics and Molecular Medicine, St. Thomas' Hospital, London SE1 7EH, UK.
  5. The Wellcome Trust Centre for Human Genetics, Department of Cardiovascular Medicine, University of Oxford, Headington, Oxford OX3 7BN, UK.
  6. King's College Hospital, Department of Haematological Medicine, Denmark Hill, London SE5 9RS, UK.

Correspondence to: Swee Lay Thein1,6 e-mail: sl.thein@kcl.ac.uk

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