Table 4.
Genome-wide association (GWAS) results for platelet traits with consistency in two or more human population samples with strong association with only one trait.
| Gene* | Chr region | Phenotype association |
Association P- val |
Pop. | # in PM† |
# in PM (PLT)† |
Further evidence |
|---|---|---|---|---|---|---|---|
| ADRA2A | 10q25.2 | PRP Epi(17) | 3.2e-12 | EA, AA | >500 | >500 | FD, HS(94), R(95), P(96) |
| NEURL | 10q24.33 | PRP Epi(17) | 2.5e-7 | EA, AA | 10 | 1 | |
| PRNP | 20p13 | PRP Epi(17) | 1.7e-6 | EA, AA | >500 | 1 | HS(97), P(98) |
| TRIM27 | 6p22.1 | PRP Epi(17) | 2.4e-6 | EA, AA | 54 | 0 | |
| SGCZ | 8p22 | PRP Epi(17) | 4.5e-6 | EA, AA | 2 | 0 | |
| ST3GAL4 | 11q24.2 | PRP Epi(17) | 3.0e-6 | EA, AA | 5 | 1 | AM(61;63), FD(62), HS(61) |
| LPAR1 | 9q31.3 | PRP Epi(54) | 5.8e-3 | EA | 11 | 0 | FD, HS(99) |
| SHH | 7q36.3 | PRP ADP(17) | 4.5e-8 | EA, AA | >500 | 34 | MK(100) |
| MST151 | 10p13 | PRP ADP(17) | 6.7e-7 | EA, AA | 0 | 0 | |
| KCNQ1 | 11p15.5-p15.4 | PRP ADP(17) | 5.9e-6 | EA, AA | 200 | 0 | |
| RAPGEF2 | 4q32.1 | PRP ADP(17) | 9.1e-7 | EA, AA | 19 | 6 | S(101;102) |
| JAK2 | 9p24.1 | WB ADP(44), PRP ADP(54) | 6.0e-4, p<0.05 | EA | >500 | 499 | AM, FD, HS, R, P, S |
| COMMD7 | 20q11.21 | WB ADP(50), PRP ADP(54) | 1.2e-3, p<0.05 | EA | 0 | 0 | AM, R(50) |
| GP6 | 19q13.42 | PRP collagen lag time(17) | 8.4e-14 | EA, AA | 237 | 17 | FD, R(103), P(104) |
| PTPRD | 9p24.1 | PRP collagen lag time(17) | 1.2e-7 | EA, AA | 200 | 3 | |
| HSD17B6 | 12q13.3 | PRP collagen lag time(17) | 1.1e-6 | EA, AA | 6 | 0 | |
| FCER1G | 1q23.3 | WB coll.(44), PRP coll. lag(17) | 9.6e-6, 1.6e-5 | EA | 12 | 0 | |
| UGT1A10 | 2q37.1 | PRP collagen lag time(17) | 1.2e-5 | EA, AA | 126 | 0 | |
| RAP1B | 12q15 | PRP collagen lag time(17) | 1.5e-5 | EA, AA | 150 | 52 | AM(64), R(105;106), S(107), P(108) |
| MYO5B | 18q21.1 | PRP collagen(54) | 3.0e-5 | EA | 34 | 0 | |
| WDR66 | 12q24.31 | MPV(51;55) | 2.7e-44 | EA | 0 | 0 | |
| ARHGEF3 | 3p21-p13 | MPV(51;55) | 5.5e-31 | EA | 6 | 0 | R(109) |
| TMCC2 | 1q32.1 | MPV(51) | 1.4e-20 | EA | 1 | 0 | |
| BET1L | 11p15.5 | MPV(51) | 1.3e-14 | EA | 10 | 0 | |
| DNM3 | 1q24.3 | MPV(51) | 2.1e-14 | EA | 6 | 1 | MK(110), R(50) |
| EHD3 | 2p21 | MPV(51) | 3.2e-11 | EA | 21 | 0 | R(51) |
| SIRPA | 20p13 | MPV(51) | 7.7e-11 | EA | 193 | 2 | |
| CD226 | 18q22.3 | MPV(51) | 1.4e-10 | EA | 113 | 0 | MK(111) |
| TPM1 | 15q22.1 | MPV(51) | 1.9e-8 | EA | 158 | 1 | MK(112), R(51;51;112) |
| AK3 | 9p24.1-p24.3 | PLT(51) | 8.5e-17 | EA | 51 | 0 | |
| ATXN2 | 12q24 | PLT(51) | 2.2e-13 | EA | 23 | 0 | R(51) |
| PTPN11 | 12q24 | PLT(51) | 7.7e-12 | EA | 200 | 108 | HS(113), R(51), S(113;114) |
| THPO | 3q27.1 | PLT(34) | 5.4e-11 | AS | 94 | 12 | MK(115), FD, HS(33;116) |
| BAK1 | 6p21.3 | PLT(51) | 3.7e-10 | EA | >500 | 10 | |
| NRG3 | 10q23.1 | PLT(54) | 3.6e-5 | EA | 38 | 0 |
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. Further evidence abbreviations: AM=animal model, 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