Evidence map›Paper›PMID 27280446›Full record

SynthesisPloS one2016

Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.

Stela McLachlan, Claudia Giambartolomei, Jon White, Pimphen Charoen, Andrew Wong, Chris Finan, Jorgen Engmann, Tina Shah, Micha Hersch, Clara Podmore and 19 more

Erratum issuedAbstract readMeta-Analysis
In one paragraph

Synthesis in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
–field-weighted citation impact
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

16 citing papers in PubMed.

  1. Relationship of Genetic Variability (Health science reports · 2026
    Article
  2. Article
  3. COVID-19 Mortality in the Colorado Center for Personalized Medicine Biobank.International journal of environmental research and public health · 2023
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Genetic control of erythropoiesis.Current opinion in hematology · 2017
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

29 authors.

Stela McLachlanCentre for Population Health Sciences, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, United Kingdom.
Claudia GiambartolomeiDepartment of Psychiatry, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, The Leon and Norma Hess Center for Science and Medicine, New York, New York, United States of America.
Jon WhiteUniversity College London Genetics Institute, Department of Genetics, Environment and Evolution, London, United Kingdom.ORCID http://orcid.org/0000-0003-2666-561X
Pimphen CharoenDepartment of Non-communicable Disease Epidemiology, Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, United Kingdom.
Andrew WongMRC Unit for Lifelong Health and Ageing at UCL, London, United Kingdom.
Chris FinanInstitute of Cardiovascular Science, University College London, London, United Kingdom.
Jorgen EngmannGenetic Epidemiology Group, Institute of Cardiovascular Science, University College London, London, United Kingdom.
Tina ShahGenetic Epidemiology Group, Institute of Cardiovascular Science, University College London, London, United Kingdom.
Micha HerschDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Clara PodmoreMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, United Kingdom.ORCID http://orcid.org/0000-0002-2452-8067
Alana CavadinoCentre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, United Kingdom.
Barbara J JefferisDepartment of Primary Care & Population Health, UCL Institute of Epidemiology & Health Care, University College London, London, United Kingdom.
Caroline E DaleFarr Institute of Health Informatics Research, Department of Epidemiology & Public Health, University College London, London, United Kingdom.
Elina HypponenPopulation, Policy and Practice, UCL Institute of Child Health, University College London, London, United Kingdom.
Richard W MorrisDepartment of Primary Care & Population Health, UCL Institute of Epidemiology & Health Care, University College London, London, United Kingdom.
Juan P CasasInstitute of Health Informatics, University College London, London, United Kingdom.
Meena KumariInstitute for Social and Economic Research, University of Essex, Colchester, United Kingdom.
Yoav Ben-ShlomoSchool of Social and Community Medicine, University of Bristol, Bristol, United Kingdom.
Tom R GauntMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom.
Fotios DrenosMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom.
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, United Kingdom.
Diana KuhMRC Unit for Lifelong Health and Ageing at UCL, London, United Kingdom.
Mika KivimakiDepartment of Epidemiology & Public Health, UCL Institute of Epidemiology & Health Care, University College London, London, United Kingdom.
Rico RueediDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Gerard WaeberDepartment of Internal Medicine, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland.
Aroon D HingoraniInstitute of Cardiovascular Science, University College London, London, United Kingdom.
Jacqueline F PriceCentre for Population Health Sciences, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, United Kingdom.
Ann P WalkerCentre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, London, United Kingdom.ORCID http://orcid.org/0000-0002-8485-3494
UCLEB Consortium

Funding

Socio-economic status and heterogeneity in agingR01AG013196 · NIA · UNIVERSITY OF LONDON INST OF NEUROLOGY · PI MARMOT, MICHAEL G, SINGH-MANOUX, ARCHANA · 1996 to 2013
$3.5M
Socioeconomic gradient in CHD in early old ageR01HL036310 · NHLBI · UNIVERSITY OF LONDON · PI KIVIMAKI, MIKA J, MARMOT, MICHAEL G · 1986 to 2012
$3.1M
British Heart Foundation PG/13/66/30442British Heart Foundation RG/07/008/23674British Heart Foundation RG/08/013/25942British Heart Foundation RG/10/12/28456British Heart Foundation RG/13/16/30528British Heart Foundation RG/13/2/30098Diabetes UK 10/0003985Medical Research Council G0000934Medical Research Council G0500877Medical Research Council G1001799Medical Research Council K013351Medical Research Council MC_UU_12013/5Medical Research Council MC_UU_12015/1Medical Research Council MC_UU_12019/1Medical Research Council MR/K006584/1Medical Research Council MR/K013351/1NHLBI NIH HHS R01 HL036310NIA NIH HHS R01 AG013196Wellcome Trust
6 · The paper itself

Abstract

Red blood cell (RBC) traits are routinely measured in clinical practice as important markers of health. Deviations from the physiological ranges are usually a sign of disease, although variation between healthy individuals also occurs, at least partly due to genetic factors. Recent large scale genetic studies identified loci associated with one or more of these traits; further characterization of known loci and identification of new loci is necessary to better understand their role in health and disease and to identify potential molecular mechanisms. We performed meta-analysis of Metabochip association results for six RBC traits-hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV) and red blood cell count (RCC)-in 11 093 Europeans from seven studies of the UCL-LSHTM-Edinburgh-Bristol (UCLEB) Consortium. We identified 394 non-overlapping SNPs in five loci at genome-wide significance: 6p22.1-6p21.33 (with HFE among others), 6q23.2 (with HBS1L among others), 6q23.3 (contains no genes), 9q34.3 (only ABO gene) and 22q13.1 (with TMPRSS6 among others), replicating previous findings of association with RBC traits at these loci and extending them by imputation to 1000 Genomes. We further characterized associations between ABO SNPs and three traits: hemoglobin, hematocrit and red blood cell count, replicating them in an independent cohort. Conditional analyses indicated the independent association of each of these traits with ABO SNPs and a role for blood group O in mediating the association. The 15 most significant RBC-associated ABO SNPs were also associated with five cardiometabolic traits, with discordance in the direction of effect between groups of traits, suggesting that ABO may act through more than one mechanism to influence cardiometabolic risk.

Indexed as

ABO Blood-Group SystemDNA ReplicationErythrocytesEthnicityEuropeGenome-Wide Association StudyHumansPolymorphism, Single NucleotideQuantitative Trait LociABO Blood-Group System

Identifiers

PMID27280446
PMCPMC4900668

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.