Research Article
Genome- and Exome-Wide Association Studies Revealed Candidate Genes Associated with DaTscan Imaging Features
Table 2
DaTscan GWAS summary statistics.
| | Chr | SNP | Effect allele | Effect allele frequency | Effect size | SE | Mapped gene | DaTscan anatomical feature | value |
| | 1 | exm-rs2749097 | C | 0.18 | −0.22 | 0.05 | PGM1-ROR1 | Right putamen | 1.97 × 10−4 | | −0.22 | 0.05 | Left putamen | 2.06 × 10−4 | | −0.23 | 0.06 | Right anterior putamen | 1.48 × 10−4 |
| | 1 | exm2250721_ver4 | A | 0.30 | 0.19 | 0.04 | PROX1-SMYD2 | Right putamen | 7.57 × 10−5 | | rs1147673 | 0.18 | 0.04 | Right anterior putamen | 2.14 × 10−4 |
| | 1 | exm1952 | G | 0.10 | 0.27 | 0.07 | C1QTNF12 | Right caudate | 1.11 × 10−4 | | rs78555129 |
| | 1 | exm1971 | A | 0.09 | 0.27 | 0.07 | C1QTNF12 | Right caudate | 1.87 × 10−4 | | rs12093154 |
| | 1 | exm156096
rs1188732 | T | 0.31 | −0.18 | 0.04 | OBSCN | Right caudate | 2.33 × 10−4 | | −0.18 | 0.05 | Left caudate | 2.23 × 10−4 |
| | 1 | exm2250840
rs12035900 | T | 0.31 | −0.18 | 0.04 | OBSCN | Right caudate | 2.17 × 10−4 | | −0.18 | 0.05 | Left caudate | 1.92 × 10−4 |
| | 2 | exm2269055
rs6746533 | T | 0.37 | 0.17 | 0.04 | FSHR | Right putamen | 2.22 × 10−4 | | 0.17 | 0.04 | Right anterior putamen | 2.08 × 10−4 |
| | 3 | NeuroX_rs3804958 | A | 0.30 | −0.18 | 0.05 | GRM7 | Right anterior putamen | 2.55 × 10−4 |
| | 3 | exm2269501
rs2289746 | T | 0.35 | 0.20 | 0.04 | CBLB | Right caudate | 8.57 × 10−6 | | 0.18 | 0.04 | Left caudate | 6.12 × 10−5 | | 0.19 | 0.04 | Right putamen | 4.00 × 10−5 | | 0.20 | 0.04 | Left putamen | 2.13 × 10−5 | | 0.21 | 0.04 | Right anterior putamen | 1.20 × 10−5 | | 0.22 | 0.04 | Left anterior putamen | 7.47 × 10−6 |
| | 3 | exm-rs9657904 | C | 0.21 | 0.20 | 0.05 | CBLB | Right caudate | 1.05 × 10−4 |
| | 4 | NeuroX_rs3736087 | A | 0.19 | −0.22 | 0.05 | GAK | Left caudate | 1.37 × 10−4 | | −0.23 | 0.05 | Left putamen | 7.97 × 10−5 | | −0.23 | 0.06 | Left anterior putamen | 9.90 × 10−5 |
| | 4 | NeuroX_rs3775119 | A | 0.17 | −0.21 | 0.06 | GAK | Left caudate | 2.66 × 10−4 | | −0.24 | 0.06 | Left putamen | 6.66 × 10−5 | | −0.23 | 0.06 | Left anterior putamen | 1.35 × 10−4 |
| | 6 | NeuroX_rs2798641 | T | 0.20 | 0.19 | 0.05 | ARMC2 | Right caudate | 2.34 × 10−4 | | 0.20 | 0.05 | Right anterior putamen | 2.47 × 10−4 |
| | 6 | exm563164
rs4706980 | A | 0.09 | 0.29 | 0.07 | DOP1A | Left putamen | 1.68 × 10−4 | | 0.29 | 0.08 | Left anterior putamen | 2.43 × 10−4 |
| | 7 | NeuroX_rs12704813 | G | 0.26 | 0.18 | 0.04 | PDK4-DYNC1I1 | Right caudate | 1.05 × 10−4 |
| | 7 | NeuroX_rs12704814 | A | 0.24 | 0.19 | 0.04 | PDK4-DYNC1I1 | Right caudate | 8.65 × 10−5 | | 0.18 | 0.04 | Left caudate | 1.85 × 10−4 |
| | 8 | exm692355
rs3779620 | C | 0.11 | 0.27 | 0.07 | PBK | Right caudate | 1.04 × 10−4 | | 0.27 | 0.07 | Right putamen | 1.58 × 10−4 | | 0.27 | 0.07 | Left putamen | 1.95 × 10−4 | | 0.31 | 0.07 | Right anterior putamen | 2.50 × 10−5 |
| | 8 | exm717867
rs4870723 | C | 0.47 | −0.17 | 0.04 | COL14A1 | Right caudate | 1.12 × 10−4 | | −0.17 | 0.04 | Left caudate | 9.30 × 10−5 | | −0.17 | 0.04 | Right putamen | 1.87 × 10−4 | | −0.18 | 0.04 | Right anterior putamen | 6.64 × 10−5 | | −0.17 | 0.04 | Left anterior putamen | 2.01 × 10−4 |
| | 8 | exm732337
rs7830832 | A | 0.43 | −0.16 | 0.04 | TONSL | Left putamen | 2.45 × 10−4 |
| | 8 | exm732383
rs2229315 | C | 0.44 | −0.16 | 0.04 | TONSL | Left putamen | 1.79 × 10−4 |
| | 8 | exm-rs10481151 | C | 0.09 | −0.32 | 0.07 | FAM91A1-FER1L6 | Right putamen | 2.56 × 10−5 | | −0.33 | 0.07 | Right anterior putamen | 1.95 × 10−5 |
| | 8 | exm692255
rs4732748 | T | 0.10 | 0.28 | 0.07 | ESCO2 | Right anterior putamen | 2.21 × 10−4 |
| | 11 | exm959224
rs80264810 | A | 0.06 | 0.34 | 0.08 | TMPRSS13 | Right caudate | 9.34 × 10−5 |
| | 11 | exm2271458
rs1384510 | C | 0.31 | 0.18 | 0.04 | OR5P3-OR10A6 | Left caudate | 1.15 × 10−4 |
| | 11 | NeuroX_rs1349820 | A | 0.22 | 0.21 | 0.05 | DLG2 | Left caudate | 8.07 × 10−5 |
| | 12 | exm2264471
rs7314355 | C | 0.44 | −0.17 | 0.04 | SLC16A7-TAFA2 | Right anterior putamen | 2.68 × 10−4 |
| | 13 | exm-rs9536591 | C | 0.48 | 0.16 | 0.04 | LINC00458 | Left caudate | 1.30 × 10−4 |
| | 13 | exm2267525
rs9568968 | A | 0.47 | 0.15 | 0.04 | LINC00458 | Left caudate | 2.11 × 10−4 |
| | 13 | exm-rs1413191 | T | 0.19 | 0.20 | 0.05 | GPC5 | Right putamen | 2.38 × 10−4 | | 0.21 | 0.05 | Right anterior putamen | 2.30 × 10−4 |
| | 17 | exm2268030
rs714407 | A | 0.16 | 0.23 | 0.05 | PIK3R5 | Left caudate | 7.95 × 10−5 | | 0.22 | 0.06 | Left anterior putamen | 2.01 × 10−4 |
| | 17 | exm1278142
rs222747 | C | 0.24 | −0.19 | 0.05 | TRPV1 | Right putamen | 1.64 × 10−4 | | −0.21 | 0.05 | Left putamen | 2.55 × 10−5 | | −0.19 | 0.05 | Right anterior putamen | 2.06 × 10−4 | | −0.22 | 0.05 | Left anterior putamen | 2.55 × 10−5 |
| | 17 | exm1278123
rs224534 | A | 0.36 | −0.17 | 0.04 | TRPV1 | Left putamen | 2.07 × 10−4 | | −0.17 | 0.04 | Left anterior putamen | 1.90 × 10−4 |
| | 17 | exm2260619
rs12450112 | G | 0.27 | 0.22 | 0.05 | MAP2K4-MYOCD | Right caudate | 7.36 × 10−6 | | 0.24 | 0.05 | Right putamen | 3.86 × 10−6 | | 0.19 | 0.05 | Left putamen | 1.72 × 10−4 | | 0.25 | 0.05 | Right anterior putamen | 1.34 × 10−6 | | 0.20 | 0.05 | Left anterior putamen | 1.07 × 10−4 |
| | 19 | exm1426190
rs3087689 | G | 0.27 | 0.21 | 0.05 | KRI1 | Left caudate | 3.30 × 10−5 | | 0.20 | 0.05 | Left anterior putamen | 2.35 × 10−4 |
| | 19 | exm1511688
rs11667052 | T | 0.23 | −0.20 | 0.05 | ZNF471 | Left caudate | 1.28 × 10−4 |
| | 19 | exm1511712
rs3752176 | A | 0.44 | −0.16 | 0.04 | ZNF471 | Right caudate | 2.10 × 10−4 | | −0.18 | 0.04 | Left caudate | 2.69 × 10−5 | | −0.18 | 0.04 | Left anterior putamen | 1.08 × 10−4 |
| | 19 | exm1454888
rs2651079 | T | 0.48 | 0.16 | 0.04 | ZNF792 | Left putamen | 2.36 × 10−4 |
| | 20 | exm2264705
rs527158 | A | 0.42 | 0.17 | 0.04 | RAB22A | Left putamen | 1.58 × 10−4 |
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