Table 2.
Previously Unreported Associations with MPV
rsID | Ref/Alt | Function | Gene |
European Ancestry (EA) |
Combined All Ancestry (All) |
||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Discovery (n = 34,021) |
Replication (n = 15,519) |
Combined |
Discovery (n = 41,529) |
Replication (n = 16,088) |
Combined |
||||||||||
EAF | Beta | p Value | Beta | p Value | p Value | EAF | Beta | p Value | Beta | p Value | p Value | ||||
rs6687605 | T/C | missense | LDLRAP1∗ | 0.53 | 0.046 | 8.27 × 10−12 | 0.025 | 3.74 × 10−2 | 1.80 × 10−9 | 0.51 | 0.046 | 9.92 × 10−11 | 0.024 | 3.58 × 10−2 | 3.80 × 10−11 |
rs56043070a | G/A | splice | GCSAML∗ | 0.069 | 0.094 | 1.30 × 10−9 | 0.19 | 4.48 × 10−16 | 1.12 × 10−21 | 0.064 | 0.092 | 2.25 × 10−10 | 0.19 | 3.66 × 10−16 | 2.42 × 10−22 |
rs1339847a | G/A | missense | TRIM58 | 0.10 | −0.10 | 1.47 × 10−13 | −0.037 | 5.44 × 10−2 | 9.31 × 10−13 | 0.10 | −0.11 | 2.18 × 10−17 | −0.032 | 9.77 × 10−2 | 1.06 × 10−15 |
rs34968964a | G/C | missense | IQGAP2 | 0.0049 | 0.32 | 7.65 × 10−9 | 0.12 | 9.18 × 10−2 | 1.99 × 10−8 | 0.004 | 0.32 | 2.11 × 10−9 | 0.11 | 0.106 | 8.18 × 10−9 |
rs34950321a | C/T | missense | IQGAP2∗ | 0.018 | 0.18 | 7.80 × 10−10 | 0.14 | 1.49 × 10−3 | 6.03 × 10−12 | 0.016 | 0.17 | 2.61 × 10−9 | 0.14 | 1.59 × 10−3 | 1.86 × 10−11 |
rs34592828a | G/A | missense | IQGAP2∗ | 0.037 | 0.22 | 1.72 × 10−27 | 0.16 | 2.73 × 10−9 | 1.61 × 10−34 | 0.032 | 0.23 | 1.68 × 10−31 | 0.16 | 2.95 × 10−9 | 2.98 × 10−38 |
rs1012899a | G/A | missense | LRRC16A | 0.77 | 0.051 | 1.40 × 10−7 | 0.012 | 0.417 | 1.24 × 10−6 | 0.77 | 0.042 | 1.32 × 10−6 | 0.016 | 0.273 | 2.50 × 10−6 |
rs664370 | A/G | missense | PXT1∗ | 0.30 | −0.034 | 8.03 × 10−5 | −0.025 | 5.61 × 10−2 | 1.39 × 10−5 | 0.35 | −0.042 | 5.77 × 10−8 | −0.028 | 2.78 × 10−2 | 7.23 × 10−9 |
rs2343596a | C/A | intron | ZFPM2 | 0.31 | 0.062 | 2.02 × 10−13 | 0.012 | 0.357 | 3.32 × 10−11 | 0.38 | 0.052 | 1.59 × 10−11 | 0.012 | 0.339 | 4.35 × 10−10 |
rs55895668a | T/C | missense | PLEC | 0.43 | −0.042 | 5.94 × 10−7 | −0.013 | 0.350 | 2.19 × 10−6 | 0.47 | −0.041 | 1.23 × 10−7 | −0.011 | 0.409 | 5.97 × 10−7 |
rs4909945 | T/C | missense | MRVI1∗ | 0.68 | −0.048 | 1.25 × 10−8 | −0.035 | 8.41 × 10−3 | 5.19 × 10−10 | 0.71 | −0.041 | 3.96 × 10−7 | −0.035 | 7.42 × 10−3 | 1.06 × 10−8 |
rs11125 | A/T | missense | LGALS3 | 0.078 | −0.091 | 1.55 × 10−8 | −0.037 | 0.117 | 2.76 × 10−8 | 0.07 | −0.09 | 4.22 × 10−9 | −0.037 | 0.117 | 7.21 × 10−9 |
rs2010875a | C/T | missense | PLEKHO2∗ | 0.14 | −0.076 | 1.33 × 10−7 | −0.042 | 1.62 × 10−2 | 2.10 × 10−8 | 0.15 | −0.063 | 3.01 × 10−7 | −0.042 | 1.62 × 10−2 | 2.43 × 10−8 |
rs10512472a | T/C | missense | SLFN14∗ | 0.18 | −0.059 | 1.37 × 10−8 | −0.059 | 1.96 × 10−4 | 1.12 × 10−11 | 0.18 | −0.058 | 3.15 × 10−10 | −0.059 | 1.20 × 10−4 | 1.67 × 10−13 |
rs35385129 | C/A | missense | PVR∗ | 0.16 | −0.058 | 6.24 × 10−8 | −0.044 | 7.36 × 10−3 | 2.01 × 10−9 | 0.15 | −0.055 | 3.00 × 10−8 | −0.043 | 7.13 × 10−3 | 8.79 × 10−10 |
rs2243603 | C/G | missense | SIRPB1 | 0.77 | 0.044 | 5.89 × 10−6 | 0.077 | 0.167 | 2.62 × 10−6 | 0.79 | 0.049 | 4.58 × 10−8 | 0.088 | 7.78 × 10−2 | 1.25 × 10−8 |
rs1018448 | A/C | missense | ARFGAP3∗ | 0.55 | 0.056 | 1.13 × 10−12 | 0.051 | 1.78 × 10−5 | 1.04 × 10−16 | 0.60 | 0.055 | 1.52 × 10−13 | 0.05 | 2.16 × 10−5 | 1.68 × 10−17 |
rs1997715 | G/A | 3′ UTR | ZXDB∗ | 0.26 | 0.048 | 1.93 × 10−9 | 0.084 | 5.83 × 10−2 | 4.26 × 10−10 | 0.35 | 0.04 | 4.58 × 10−8 | 0.08 | 3.99 × 10−2 | 8.88 × 10−9 |
We show variants in previously unreported MPV loci (n = 18) and retained after conditional analyses in European ancestry (EA) (p < 2.59 × 10−7) and all ancestry (All) (p < 2.20 × 10−7) analyses. Associations in African ancestry (AA) had previously been reported in the literature (Table S11). Asterisk (∗) indicates variants (11/18) that showed evidence of replication (p < 0.05, same direction of effect). If multiple genes/transcripts were annotated to a variant, the transcript more expressed in Eicher et al.32 (Table S22) was selected. Full results and annotations are available in Table S7. Abbreviations are as follows: MPV, mean platelet volume; PLT, platelet count; REF, reference allele; ALT, alternate allele; EAF, effect allele frequency.
Previous association with PLT.