Research Article
Genome- and Exome-Wide Association Studies Revealed Candidate Genes Associated with DaTscan Imaging Features
Table 1
DaTscan EWAS summary statistics.
| Chr | SNP | Effect allele | Effect allele frequency | Effect size | SE | Mapped gene | DaTscan anatomical feature | value |
| 1 | rs10864219 | A | 0.49 | 0.19 | 0.04 | USH2A | Right caudate | 2.18 × 10−5 |
| 1 | rs78555129 | G | 0.10 | 0.29 | 0.07 | C1QTNF12 | Right caudate | 0.00010 |
| 1 | rs199737720 | G | 0.06 | 0.46 | 0.10 | IGFN1 | Left caudate | 8.63 × 10−6 | 0.42 | 0.10 | Left anterior putamen | 8.89 × 10−5 |
| 1 | rs201465075 | G | 0.08 | 0.46 | 0.09 | IGFN1 | Left caudate | 4.03 × 10−7 | 0.35 | 0.09 | Right putamen | 8.54 × 10−5 | 0.41 | 0.09 | Left putamen | 8.83 × 10−6 | 0.37 | 0.09 | Right anterior putamen | 6.48 × 10−5 | 0.43 | 0.09 | Left anterior putamen | 5.12 × 10−6 |
| 2 | rs112724571 | A | 0.05 | −0.44 | 0.11 | TMEM169 | Left caudate | 9.57 × 10−5 |
| 3 | rs41271391 | T | 0.12 | −0.29 | 0.07 | CD80 | Left caudate | 5.60 × 10−5 |
| 3 | rs16829980 | G | 0.12 | −0.29 | 0.07 | CD80 | Left caudate | 5.60 × 10−5 |
| 3 | rs2305035 | A | 0.22 | 0.22 | 0.05 | CBLB | Left putamen | 0.000112 |
| 4 | rs17612630 | A | 0.20 | 0.25 | 0.06 | DDX60L | Right putamen | 2.93 × 10−5 | 0.24 | 0.06 | Right anterior putamen | 0.00010 |
| 4 | rs6964 | A | 0.31 | −0.21 | 0.05 | GAK | Left anterior putamen | 4.71 × 10−5 |
| 5 | rs6873053 | A | 0.08 | 0.35 | 0.09 | TIMD4 | Right putamen | 9.33 × 10−5 | 0.36 | 0.09 | Left putamen | 0.00010 |
| 6 | rs41266301 | C | 0.10 | −0.30 | 0.07 | KIF25 | Left putamen | 8.81 × 10−5 |
| 6 | rs3024466 | A | 0.16 | 0.27 | 0.06 | F13A1 | Right anterior putamen | 3.85 × 10−5 | 0.27 | 0.06 | Left anterior putamen | 3.85 × 10−5 |
| 6 | rs1050783 | T | 0.16 | 0.27 | 0.06 | F13A1 | Right anterior putamen | 3.15 × 10−5 | 0.27 | 0.06 | Left anterior putamen | 3.00 × 10−5 |
| 7 | rs41280648 | A | 0.05 | −0.44 | 0.10 | OGDH | Right caudate | 4.40 × 10−5 |
| 7 | rs2906997 | G | 0.06 | 0.38 | 0.09 | ZP3 | Left caudate | 0.000117 |
| 7 | rs3800769 | C | 0.42 | −0.18 | 0.04 | SLC13A4 | Left putamen | 0.00010 | −0.21 | 0.04 | Left anterior putamen | 1.98 × 10−5 |
| 8 | rs2451153 | A | 0.34 | −0.20 | 0.05 | SAMD12 | Right caudate | 8.29 × 10−5 |
| 8 | rs2514743 | C | 0.35 | −0.19 | 0.05 | SAMD12 | Right caudate | 0.00010 |
| 8 | rs2280838 | C | 0.44 | −0.17 | 0.04 | SLC39A4 | Right putamen | 0.00010 |
| 9 | rs15394 | C | 0.15 | −0.26 | 0.06 | CTSV | Right caudate | 8.07 × 10−5 |
| 9 | rs62560873 | A | 0.14 | −0.26 | 0.06 | GAS2L1P2 | Right caudate | 9.54 × 10−5 | −0.28 | 0.06 | Right putamen | 2.69 × 10−5 | −0.27 | 0.07 | Left putamen | 7.70 × 10−5 | −0.28 | 0.07 | Right anterior putamen | 5.84 × 10−5 | −0.29 | 0.07 | Left anterior putamen | 4.30 × 10−5 |
| 9 | rs16924211 | G | 0.14 | −0.29 | 0.06 | GAS2L1P2 | Right caudate | 9.81 × 10−6 | −0.29 | 0.06 | Left caudate | 1.59 × 10−5 | −0.29 | 0.06 | Right putamen | 8.81 × 10−6 | −0.28 | 0.06 | Left putamen | 3.38 × 10−5 | −0.30 | 0.06 | Right anterior putamen | 1.10 × 10−5 | −0.30 | 0.07 | Left anterior putamen | 1.40 × 10−5 |
| 12 | rs12320366 | T | 0.13 | 0.28 | 0.06 | KERA | Right caudate | 3.61 × 10−5 |
| 12 | rs11615432 | G | 0.08 | 0.34 | 0.08 | GALNT8/KCNA6 | Right putamen | 6.80 × 10−5 |
| 12 | rs7955650 | C | 0.05 | 0.44 | 0.10 | TBC1D15 | Left putamen | 2.65 × 10−5 | 0.42 | 0.10 | Left anterior putamen | 7.46 × 10−5 |
| 13 | rs41288262 | C | 0.09 | −0.32 | 0.08 | POU4F1 | Left caudate | 6.73 × 10−5 | −0.31 | 0.09 | Left putamen | 0.00010 |
| 13 | rs61947037 | C | 0.43 | −0.20 | 0.05 | PARP4 | Right anterior putamen | 6.27 × 10−5 |
| 18 | rs13732 | T | 0.46 | −0.18 | 0.04 | FECH | Right caudate | 0.000117 |
| 19 | rs10401255 | C | 0.05 | 0.47 | 0.10 | ZNF586 | Left caudate | 1.18 × 10−5 | 0.51 | 0.10 | Right putamen | 1.01 × 10−6 | 0.53 | 0.11 | Left putamen | 1.59 × 10−6 | 0.51 | 0.10 | Right anterior putamen | 1.94 × 10−6 | 0.50 | 0.11 | Left anterior putamen | 4.99 × 10−6 |
| 19 | rs16027 | T | 0.09 | 0.33 | 0.08 | CACNA1A | Right putamen | 6.10 × 10−5 |
| 19 | rs56283800 | T | 0.07 | 0.34 | 0.08 | CYP2A6 | Right putamen | 7.64 × 10−5 |
| 19 | rs2270683 | A | 0.11 | 0.31 | 0.07 | DACT3 | Right putamen | 3.13 × 10−5 | 0.32 | 0.07 | Right anterior putamen | 2.53 × 10−5 |
| 21 | rs2839531 | T | 0.07 | 0.37 | 0.09 | RSPH1 | Left anterior putamen | 8.11 × 10−5 |
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