The genetics of platelet count and volume in humans
The last decade has witnessed an explosion in the depth, variety, and amount of human genetic data that can be generated. This revolution in technical and analytical capacities has enabled the genetic investigation of human traits and disease in thousands to now millions of participants. Investigato...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2018-02-01
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| Series: | Platelets |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/09537104.2017.1317732 |
| _version_ | 1797684308079542272 |
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| author | John D. Eicher Guillaume Lettre Andrew D. Johnson |
| author_facet | John D. Eicher Guillaume Lettre Andrew D. Johnson |
| author_sort | John D. Eicher |
| collection | DOAJ |
| description | The last decade has witnessed an explosion in the depth, variety, and amount of human genetic data that can be generated. This revolution in technical and analytical capacities has enabled the genetic investigation of human traits and disease in thousands to now millions of participants. Investigators have taken advantage of these advancements to gain insight into platelet biology and the platelet’s role in human disease. To do so, large human genetics studies have examined the association of genetic variation with two quantitative traits measured in many population and patient based cohorts: platelet count (PLT) and mean platelet volume (MPV). This article will review the many human genetic strategies—ranging from genome-wide association study (GWAS), Exomechip, whole exome sequencing (WES), to whole genome sequencing (WGS)—employed to identify genes and variants that contribute to platelet traits. Additionally, we will discuss how these investigations have examined and interpreted the functional implications of these newly identified genetic factors and whether they also impart risk to human disease. The depth and size of genetic, phenotypic, and other -omic data are primed to continue their growth in the coming years and provide unprecedented opportunities to gain critical insights into platelet biology and how platelets contribute to disease. |
| first_indexed | 2024-03-12T00:27:47Z |
| format | Article |
| id | doaj.art-fe4d8bab42b148dd97ce2cbaddbfc894 |
| institution | Directory Open Access Journal |
| issn | 0953-7104 1369-1635 |
| language | English |
| last_indexed | 2024-03-12T00:27:47Z |
| publishDate | 2018-02-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj.art-fe4d8bab42b148dd97ce2cbaddbfc8942023-09-15T10:31:57ZengTaylor & Francis GroupPlatelets0953-71041369-16352018-02-0129212513010.1080/09537104.2017.13177321317732The genetics of platelet count and volume in humansJohn D. Eicher0Guillaume Lettre1Andrew D. Johnson2National Heart Lung and Blood Institute, The Framingham Heart StudyUniversité de MontréalNational Heart Lung and Blood Institute, The Framingham Heart StudyThe last decade has witnessed an explosion in the depth, variety, and amount of human genetic data that can be generated. This revolution in technical and analytical capacities has enabled the genetic investigation of human traits and disease in thousands to now millions of participants. Investigators have taken advantage of these advancements to gain insight into platelet biology and the platelet’s role in human disease. To do so, large human genetics studies have examined the association of genetic variation with two quantitative traits measured in many population and patient based cohorts: platelet count (PLT) and mean platelet volume (MPV). This article will review the many human genetic strategies—ranging from genome-wide association study (GWAS), Exomechip, whole exome sequencing (WES), to whole genome sequencing (WGS)—employed to identify genes and variants that contribute to platelet traits. Additionally, we will discuss how these investigations have examined and interpreted the functional implications of these newly identified genetic factors and whether they also impart risk to human disease. The depth and size of genetic, phenotypic, and other -omic data are primed to continue their growth in the coming years and provide unprecedented opportunities to gain critical insights into platelet biology and how platelets contribute to disease.http://dx.doi.org/10.1080/09537104.2017.1317732plateletgeneticspltmpvgwasthrombocytopenia |
| spellingShingle | John D. Eicher Guillaume Lettre Andrew D. Johnson The genetics of platelet count and volume in humans Platelets platelet genetics plt mpv gwas thrombocytopenia |
| title | The genetics of platelet count and volume in humans |
| title_full | The genetics of platelet count and volume in humans |
| title_fullStr | The genetics of platelet count and volume in humans |
| title_full_unstemmed | The genetics of platelet count and volume in humans |
| title_short | The genetics of platelet count and volume in humans |
| title_sort | genetics of platelet count and volume in humans |
| topic | platelet genetics plt mpv gwas thrombocytopenia |
| url | http://dx.doi.org/10.1080/09537104.2017.1317732 |
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