Genetic determinants of platelet large-cell ratio, immature platelet fraction, and other platelet-related phenotypes.

January 9, 2025

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Genetic determinants of platelet large-cell ratio, immature platelet fraction, and other platelet-related phenotypes.

Publicated to:Thrombosis Research. 136 (2): 361-366 - 2015-08-01 136(2), DOI: 10.1016/j.thromres.2015.06.016

Authors: Pujol-Moix N; Vázquez-Santiago M; Morera A; Ziyatdinov A; Remacha A; Nomdedeu JF; Fontcuberta J; Soria JM; Souto JC

Affiliations

Servei de Laboratori d'Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: aremacha@santpau.cat. - Author

Servei de Laboratori d'Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: jnomdedeu@santpau.cat. - Author

Unit of Genomics of Complex Diseases, Sant Pau Institute of Biomedical Research (IIB-Sant Pau), Barcelona, Spain. Electronic address: AZiyatdinov@santpau.cat. - Author

Unit of Genomics of Complex Diseases, Sant Pau Institute of Biomedical Research (IIB-Sant Pau), Barcelona, Spain. Electronic address: JSoria@santpau.cat. - Author

Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: ambnesi@gmail.com. - Author

Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: JFontcuberta@santpau.cat. - Author

Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: JSouto@santpau.cat. - Author

Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: mvazquezs@santpau.cat. - Author

Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Medicine, Universitat Autònoma de Barcelona, Spain. Electronic address: npujolmoix@gmail.com. - Author

Abstract

IntroductionPlatelets play a significant role in arterial thrombosis and are involved also in venous thrombosis. The genetic determinants of several platelet-related phenotypes have been studied previously. However, to the best of our knowledge, the genetic determinants of other platelet phenotypes have not been reported such as platelet-large-cell ratio (P-LCR) index, immature platelet fraction (IPF) parameters and overall platelet function measured through the PFA-100 system.Materials and methodsAs part of the GAIT-2 (Genetic Analysis of Idiopathic Thrombophilia 2) Project, 935 individuals from 35 large Spanish families, ascertained through a proband with thrombophilia, were studied. Using variance component methods, implemented in the SOLAR package, the heritability of the following sets of platelet-related phenotypes was determined: platelet count and indices, IPF, and platelet function.Results and conclusionsHigh heritabilities of the platelet count and index phenotypes (from 0.41 to 0.64) were found, especially for those related to platelet volume. The heritabilities of the IPF phenotypes, as a measure of platelet turnover, were the highest (from 0.65 to 0.69). The heritabilities of the platelet function phenotypes were high also (0.45 and 0.62). The covariate age influenced all of the platelet phenotypes. Smoking influenced the platelet indices related to platelet volume and all the IPF phenotypes. Venous thrombosis showed a heritability of 0.67. We did not find a genetic correlation between any of the platelet-related phenotypes and venous thrombosis. The high heritabilities found for all of the platelet phenotypes provid promising data for the identification of new genes that underly these phenotypes.

Keywords

AdolescentAdultBlood plateletsFemaleGenetic association studiesGenetic predisposition to diseaseHeritabilityHumansImmature platelet fractionMaleMean platelet volumePlatelet countPlatelet large-cell ratioPlateletsPrevalenceSpainThrombophiliaYoung adult

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The work has been published in the journal Thrombosis Research due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2015, it was in position , thus managing to position itself as a Q2 (Segundo Cuartil), in the category Hematology. Notably, the journal is positioned en el Cuartil Q3 for the agency WoS (JCR) in the category Peripheral Vascular Disease.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 5.18, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Aug 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-08-02, the following number of citations:

Europe PMC: 12

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Genetic determinants of platelet large-cell ratio, immature platelet fraction, and other platelet-related phenotypes.

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Abstract

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Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

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