Evidence map›Paper›PMID 19820698›Full record

ArticleNature genetics2009

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

John C Chambers, Weihua Zhang, Yun Li, Joban Sehmi, Mark N Wass, Delilah Zabaneh, Clive Hoggart, Henry Bayele, Mark I McCarthy, Leena Peltonen and 10 more

Open access · greenAbstract read
In one paragraph

Article in Nature genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 122 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
122citing papers in PubMed, 6 pooled it
10.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

122 citing papers in PubMed, 6 syntheses or guidelines pooled it, 251 citations in OpenAlex.

  1. Pooled it
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  7. Trial
  8. The Association ofNutrients · 2019
    Trial
  9. Genetic factors associated with iron storage in Australian blood donors.Blood transfusion = Trasfusione del sangue · 2018
    Trial
  10. Trial
  11. Trial
  12. Review
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Iron Deficiency Anemia.Advances in experimental medicine and biology · 2025
    Review
  19. Article
  20. Activation of Intestinal HIF2α Ameliorates Iron-Refractory Anemia.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024
    Article

62 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors at 8 institutions in 3 countries.

John C ChambersDepartment of Epidemiology and Public Health, Imperial College London, London, UK. john.chambers@ic.ac.uk
Weihua Zhang
Yun Li
Joban Sehmi
Mark N Wass
Delilah Zabaneh
Clive Hoggart
Henry Bayele
Mark I McCarthy
Leena Peltonen
Nelson B Freimer
Surjit K Srai
Patrick H Maxwell
Michael J E Sternberg
Aimo Ruokonen
Gonçalo Abecasis
Marjo-Riitta Jarvelin
James Scott
Paul Elliott
Jaspal S Kooner
Imperial College London · GBUniversity College London · GBUniversity of Michigan · USOulu University Hospital · FIOxford Centre for Diabetes, Endocrinology and Metabolism · GBPublic Health England · GBUniversity of California, Los Angeles · USWellcome Sanger Institute · GB

Funding

Genetics of cardiovascular risk factors in large founder population birth controlR01HL087679 · NHLBI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HIRSCHHORN, JOEL N · 2007 to 2009
$4.0M
Whole Genome Assoc. Analysis Strategies for Multi. PhenotypesRL1MH083268 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FREIMER, NELSON B. · 2007 to 2011
$2.1M
Biotechnology and Biological Sciences Research Council BB/F020481/1British Heart FoundationMedical Research Council G0500539Medical Research Council G0600705Medical Research Council G0601966Medical Research Council G0700931Medical Research Council G0801056NHLBI NIH HHS 5R01HL087679-02NHLBI NIH HHS R01 HL087679NIMH NIH HHS 1RL1MH083268-01NIMH NIH HHS RL1 MH083268Wellcome TrustWellcome Trust GR069224
6 · The paper itself

Abstract

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 x 10(-13)). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideBinding SitesBiocatalysisHemoglobinsHumansMembrane ProteinsModels, MolecularProtein Structure, TertiarySerine EndopeptidasesWhite PeopleHemoglobinsMembrane ProteinsSerine EndopeptidasesTMPRSS6 protein, human

Identifiers

PMID19820698
PMCPMC3178047
OpenAlexW1995768948

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.