Table 2.
Loci and genes associated with platelet hyperreactivity as determined by flow cytometric measurement of platelet function and a functional genomics approach
| Gene | Protein function | SNP* | Cytoband | Functional trait |
|||
|---|---|---|---|---|---|---|---|
| PA | FA | PC | FC | ||||
| GP6 | Platelet glycoprotein VI | rs1613662 | 19q13.4 | ✓ | — | ✓ | ✓ |
| FCER1G | Adapter protein for agonist receptor | rs3557 | 1q23.3 | — | — | ✓ | ✓ |
| PEAR1 | Platelet surface receptor PEAR1 | rs3737224 | 1q23.1 | — | — | ✓ | ✓ |
| rs11264579 | ✓ | ✓ | — | — | |||
| RAF1 | Protein kinase | rs3729931 | 3p25.1 | ✓ | ✓ | ✓ | |
| JAK2 | Protein kinase | rs10429491 | 9p24.1 | ✓ | ✓ | — | — |
| P2RY12 | Purinogenic (ADP) receptor P2Y12 | rs1472122 | 3q25.1 | ✓ | ✓ | ✓ | — |
| GNAZ | Adapter protein for agonist receptor | rs3788337 | 22q11.22 | ✓ | — | — | — |
| VAV3 | Intracellular signaling molecule | rs17229705 | 1p13.3 | ✓ | ✓ | ✓ | — |
| CD36 | Platelet surface receptor | rs1049654 | 7q21.11 | — | — | ✓ | ✓ |
| MAP2K2 | Protein kinase | rs350916 | 19p13.3 | — | ✓ | — | — |
| ITGA2 | Integrin subunit-α2 | rs41305896 | 5q11.2 | ✓ | ✓ | — | — |
| AKT2 | Protein kinase | rs41275750 | 19q13.2 | ✓ | ✓ | ||
| MAPK14 | Protein kinase | rs851007 | 6p21.31 | ✓ | ✓ | ✓ | — |
| MAP2K4 | Protein kinase | rs41307923 | 17p12 | — | — | ✓ | ✓ |
| ITPR1 | Intracellular signaling molecule | rs17786144 | 3p26.2 | ✓ | ✓ | — | — |
PA indicates P-selectin expression in response to ADP; FA, fibrinogen binding in response to ADP; PC, P-selectin expression in response to CRP-XL; and FC, fibrinogen binding in response to CRP-XL.
Data from Jones et al2 with permission.
*
SNP exhibiting lowest P value.