Table 3.
Genome-wide association (GWAS) results for platelet traits with consistency in two or more human population samples and association with 2 or more distinct traits in either the same or different studies.
| Gene* | Chr region | Phenotype association |
Association P- val |
Pop. | # in PM† |
# in PM (PLT)† |
Further evidence |
|---|---|---|---|---|---|---|---|
| CYP2C19 | 10q23.33 | Clopidogrel response and outcomes(29) | 1.5e-13 | EA, AA, AS, H | >500 | 192 | DM, FD, HS |
| PEAR1 | 1q23.1 | PRP Epi, ADP(17), Aspirin PRP response(43), WB coll.(44) | 4.9e-19, 3.8e-16, 3.8e-4, 2.6e-4 | EA, AA | 2 | 2 | P(42;45) |
| PIK3CG | 7q22.3 | PRP Epi(17), MPV(51;56;56) | 3.1e-9, 1.6e-33 | EA | 210 | 13 | AM(59;60),R(56),S(59;60) |
| JMJD1C | 10q21.2 | PRP Epi(17), MPV(51), PRP ADP(54) | 1.6e-8, 3.3e-21, p<0.05 | EA, AA | 10 | 0 | MK(65) |
| MRVI1 | 11p15.4 | PRP ADP, Epi(17) | 2.0e-8, 7.6e-7 | EA, AA | 16 | 2 | AM(58),R(89),S(58) |
| RGS18 | 1q31.2 | PRP Epi, ADP(17) | 6.8e-7, 4.0e-5 | EA, AA | 19 | 6 | R(90–92),P(93), S(93) |
| TAOK1 | 17q11.2 | MPV(51;55), PRP ADP(17) | 1.4e-22, 6.9e-5 | EA | 3 | 0 | |
| P2RY12 | 3q25.1 | PRP ADP, Epi(17) | 8.2e-6, 9.5e-4 | EA | 453 | 395 | AM, FD, HS, R, P, S |
| GP1Bα | 17p13.2 | PLT(34) | 2.1e-12 | AS | 25 | 16 | AM, FD, HS, R, P, S |
| PRP Epi(17) | 0.03 | EA | |||||
| PIP5K1B | 9q21.11 | PRP ADP, Epi(17) | 2.2e-7, 8.0e-6 | EA | 5 | 0 | |
| HMGB1L1 | 20q13.31 | PRP ADP, Epi(17) | 1.1e-6, 5.2e-6 | EA | 0 | 0 | |
| SETBP1 | 18q12.3 | PRP Epi, ADP(17) | 1.3e-6, 5.4e-6 | EA | 8 | 0 | |
| FBXL7 | 5p15.1 | PRP Epi, ADP(17) | 2.9e-6, 2.3e-5 | EA | 1 | 0 | |
| ATP6VOD2 | 8q21.2-q21.3 | PRP Epi, ADP(17) | 7.9e-6, 8.7e-6 | EA | 0 | 0 | |
| KIAA0802 | 18p11.22 | PRP Epi, ADP(17) | 9.6e-6, 7.2e-5 | EA | 0 | 0 | |
| FLJ39743 | 15q26.3 | PRP Epi, ADP(17) | 1.5e-5, 3.3e-5 | EA | 0 | 0 | |
| WBSCR17 | 7q11.22 | PRP ADP, Epi(17) | 1.7e-5, 6.3e-5 | EA | 3 | 0 | |
| CUBN | 10p13 | PRP ADP, Epi(17) | 1.9e-5, 8.1e-5 | EA | 17 | 0 | |
| MIPOL1 | 14q13.3-q21.1 | PRP Epi, ADP(17) | 2.2e-5, 4.9e-5 | EA | 5 | 0 | |
| NUP210 | 3p25.1 | PRP Epi, ADP(17) | 4.2e-5, 8.8e-5 | EA | 44 | 0 | |
| SVIL | 10p11.23 | PRP Epi, ADP(17) | 4.4e-5, 8.2e-5 | EA, AA | 17 | 0 | |
| THSD4 | 15q23 | PRP ADP, Epi(17) | 4.4e-5, 8.2e-5 | EA | 3 | 0 | FD |
| STMN4 | 8p21.2 | PRP ADP, Epi(17) | 5.6e-5, 9.0e-5 | EA | 23 | 0 | |
| KLHL31 | 6p12.1 | PRP Epi, ADP(17) | 6.0e-5, 6.3e-5 | EA | 2 | 0 | |
| GMDS | 6p25.3 | PRP ADP, Epi(17) | 6.1e-5, 8.1e-5 | EA | 0 | 0 | |
| ADAMTS2 | 5q35.3 | PRP Epi, ADP(17) | 6.8e-5, 7.1e-5 | EA | 24 | 0 | FD |
some regions contain >1 gene near the genetic signal. Either the closest gene or strongest candidate gene is given.
2 PubMed search was performed for each gene name on March 16, 2011. One search was only with gene name. The second search was with gene name AND (platelet OR megakaryocyte OR thrombosis OR hemostasis). The GWAS studies considered here are not counted among the results.
Population abbreviations are: EA=European ancestry, AA=African ancestry, AS=Asian ancestry, H=Hispanic. Further evidence abbreviations: AM=animal model, DM=drug metabolism function, FD=functional domain, HS=human study of platelet function/disease, MK=role in megakaryocyte development or function, P=protein or proteomics evidence for a role in platelets/MK, R=RNA gene expression evidence for role in platelets/MK, S=signaling role known in platelets/MK