Semin Thromb Hemost 2013; 39(03): 291-305
DOI: 10.1055/s-0033-1334466
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genetic Loci Associated with Platelet Traits and Platelet Disorders

Natalia Bunimov
1  Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
,
Nola Fuller
1  Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
,
Catherine P. M. Hayward
1  Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
2  Department of Medicine, McMaster University, Hamilton, Ontario, Canada
3  Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada
› Author Affiliations
Further Information

Publication History

Publication Date:
06 March 2013 (online)

Abstract

Genetic investigations have led to important advances in our knowledge of genes, proteins, and microRNA that influence circulating platelet counts, platelet size, and function. The application of genome-wide association studies (GWAS) to platelet traits has identified multiple loci with a significant association to platelet number, size, and function in aggregation and granule secretion assays. Moreover, the genes altered by disease-causing mutations have now been identified for several platelet disorders, including X-linked recessive, autosomal dominant, and autosomal recessive platelet disorders. Some mutations that cause inherited platelet disorders involve genes that GWAS have associated to platelet traits. Although disease-causing mutations in many rare and syndromic causes of platelet disorders have now been characterized, the genetic mutations that cause common inherited platelet disorders, and impair platelet aggregation and granule secretion, are largely unknown. This review summarizes current knowledge on the genetic loci that influence platelet traits, including the genes with well-characterized mutations in certain inherited platelet disorders.