Brief Communication abstract


Nature Genetics 41, 1170 - 1172 (2009)
Published online: 11 October 2009 | doi:10.1038/ng.462

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

John C Chambers1,13, Weihua Zhang1,13, Yun Li2, Joban Sehmi3, Mark N Wass4, Delilah Zabaneh1, Clive Hoggart1, Henry Bayele5, Mark I McCarthy6, Leena Peltonen7, Nelson B Freimer8, Surjit K Srai5, Patrick H Maxwell9, Michael J E Sternberg4, Aimo Ruokonen10, Gonçalo Abecasis2, Marjo-Riitta Jarvelin1,11,12, James Scott3,13, Paul Elliott1,13 & Jaspal S Kooner3,13

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We carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely associated SNP (rs855791) results in nonsynonymous (V736A) change in the serine protease domain of TMPRSS6 and a blood hemoglobin concentration 0.13 (95% CI 0.09–0.17) g/dl lower per copy of allele A (P = 1.6 times 10-13). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance.

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  1. Department of Epidemiology and Public Health, Imperial College London, London, UK.
  2. Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  3. National Heart and Lung Institute, London, UK.
  4. Structural Bioinformatics Group, Imperial College London, London, UK.
  5. Department of Structural & Molecular Biology, University College London, London, UK.
  6. Oxford Centre for Diabetes, Endocrinology and Metabolism and Oxford NIHR Biomedical Research Centre, Oxford, UK.
  7. Wellcome Trust Sanger Institute, Cambridge, UK.
  8. Center for Neurobehavioral Genetics, University of California, Los Angeles, California, USA.
  9. Division of Medicine, University College of London, London, UK.
  10. Department of Clinical Chemistry, University Hospital Oulu, Oulu, Finland.
  11. Institute of Health Sciences, Oulu, Finland.
  12. Biocenter Oulu, University of Oulu, Oulu, Finland.
  13. These authors contributed equally to this work.

Correspondence to: John C Chambers1,13 e-mail: john.chambers@ic.ac.uk

Correspondence to: Jaspal S Kooner3,13 e-mail: j.kooner@ic.ac.uk



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