Table 3.
Loci and genes associated with MPV and platelet count determined by GWAS
| Trait/gene | Protein | SNP | Position | Cytoband |
|---|---|---|---|---|
| MPV | ||||
| DNM3 | Dynamin-3 | rs10914144 | 170 216 373 | 1q24.3 |
| TPM1 | Tropomyosin α-1 chain | rs11071720 | 61 129 049 | 15q22.1 |
| BET1L | Unknown function | rs11602954 | 192 856 | 11p15.5 |
| ARHGEF3 | Rho guanine nucleotide exchange factor 3 | rs12485738 | 56 840 816 | 3p21-p13 |
| TMCC2 | Unknown function | rs1668873 | 203 502 613 | 1q32.1 |
| TAOK1 | Serine/threonine-protein kinase TAO1 | rs2138852 | 24 727 475 | 17q11.2 |
| JMJD1C | JmjC domain-containing histone demethylation protein 2C | rs2393967 | 64 803 162 | 10q21.2-q21.3 |
| PIK3CG | Phosphatidylinositol-4,5-biphosphate 3-kinase catalytic subunit γ-isoform | rs342293 | 106 159 455 | 7q22.3 |
| SIRPA | CD172a, tyrosine-protein phosphatase nonreceptor type substrate 1 | rs6136489 | 1 871 734 | 20p13 |
| EHD3 | EH-domain containing protein 3 | rs647316 | 31 318 333 | 2p21 |
| WDR66 | WD repeat-containing protein 66 | rs7961894 | 120 849 966 | 12q24.31 |
| CD226 | CD226 antigen | rs893001 | 65 667 825 | 18q22.3 |
| PLT | ||||
| ATXN2 | Unknown function | rs11065987 | 110 556 807 | 12q24 |
| SH2B3 | SH2B adapter protein 3 | rs3184504 | 12q24 | |
| PTPN11 | Tyrosine-protein phosphatase nonreceptor type 11 | rs11066301 | 111 355 755 | 12q24 |
| BAK1 | Bcl-2 homologous antagonist/killer function | rs210135 | 33 648 670 | 6p21.3 |
| AK3 | Adenylate kinase 3 | rs385893 | 4 753 176 | 9p24.1-p24.3 |