Evidence map›Paper›PMID 19221038›Full record

ArticleBlood2009

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function.

Nicole Soranzo, Augusto Rendon, Christian Gieger, Chris I Jones, Nicholas A Watkins, Stephan Menzel, Angela Döring, Jonathan Stephens, Holger Prokisch, Wendy Erber and 19 more

Open access · bronzeAbstract readMulticenter StudyTwin Study
In one paragraph

Article in Blood, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 8 pooled it
7.7field-weighted citation impact, top 2% 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

56 citing papers in PubMed, 8 syntheses or guidelines pooled it, 119 citations in OpenAlex.

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  9. Article
  10. Heterogeneity of platelets and their responses.Research and practice in thrombosis and haemostasis · 2024
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  19. Prevalence of Low Platelet Count and Identification of Associating Determinants and Genetic Polymorphism in Healthy Individuals of Upper Assam, India.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2019
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  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

29 authors at 12 institutions in 2 countries.

Nicole SoranzoHuman Genetics Department, Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom. ns6@sanger.ac.uk
Augusto Rendon
Christian Gieger
Chris I Jones
Nicholas A Watkins
Stephan Menzel
Angela Döring
Jonathan Stephens
Holger Prokisch
Wendy Erber
Simon C Potter
Sarah L Bray
Philippa Burns
Jennifer Jolley
Mario Falchi
Brigitte Kühnel
Jeanette Erdmann
Heribert Schunkert
Nilesh J Samani
Thomas Illig
Stephen F Garner
Angela Rankin
Christa Meisinger
John R Bradley
Swee Lay Thein
Alison H Goodall
Tim D Spector
Panos Deloukas
Willem H Ouwehand
National Health Service · GBHelmholtz Zentrum München · DEKing's College London · GBNHS Blood and Transplant · GBWellcome Sanger Institute · GBUniversity of Leicester · GBUniversity of Lübeck · DEImperial College London · GBMRC Biostatistics Unit · GBTechnical University of Munich · DEUniversity of Cambridge · GBUniversity of Reading · GB

Funding

Medical Research Council G0000111Wellcome Trust 072856Wellcome Trust 077011Wellcome Trust 079771Wellcome Trust 082597Wellcome Trust 084183
6 · The paper itself

Abstract

Mean platelet volume (MPV) and platelet count (PLT) are highly heritable and tightly regulated traits. We performed a genome-wide association study for MPV and identified one SNP, rs342293, as having highly significant and reproducible association with MPV (per-G allele effect 0.016 +/- 0.001 log fL; P < 1.08 x 10(-24)) and PLT (per-G effect -4.55 +/- 0.80 10(9)/L; P < 7.19 x 10(-8)) in 8586 healthy subjects. Whole-genome expression analysis in the 1-MB region showed a significant association with platelet transcript levels for PIK3CG (n = 35; P = .047). The G allele at rs342293 was also associated with decreased binding of annexin V to platelets activated with collagen-related peptide (n = 84; P = .003). The region 7q22.3 identifies the first QTL influencing platelet volume, counts, and function in healthy subjects. Notably, the association signal maps to a chromosome region implicated in myeloid malignancies, indicating this site as an important regulatory site for hematopoiesis. The identification of loci regulating MPV by this and other studies will increase our insight in the processes of megakaryopoiesis and proplatelet formation, and it may aid the identification of genes that are somatically mutated in essential thrombocytosis.

Indexed as

Blood PlateletsPolymorphism, Single NucleotideAdultAgedChromosome MappingChromosomes, Human, Pair 7Cohort StudiesFemaleGene Expression RegulationGenome, HumanHematologic NeoplasmsHumansMaleMiddle AgedPlatelet CountQuantitative Trait Loci

Identifiers

PMID19221038
PMCPMC2714088
OpenAlexW2049837425

What OpenQuestion holds

Textmetadata
LicenceTDM
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.