Table 2.
Test | Gene Region | Chr | Position (hg19) | SNP | Type | MAF | N | β | SE | P | PFDR | PFWE |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HVLT-R TR | PARP4 | 13 | 25068808 | rs9318600 | missense | 0.10 | 1039 | 1.88 | 0.37 | 2.9 × 10−7 | 0.0059 | 0.014 |
MDM1 | 12 | 68720534 | rs117673673 | missense | 0.01 | 1040 | −3.62 | 0.71 | 3.7 × 10−7 | 0.0059 | 0.017 | |
PARP4 | 13 | 25082630 | rs9581094 | intronic | 0.15 | 1040 | 1.65 | 0.32 | 3.8 × 10−7 | 0.0059 | 0.018 | |
HVLT-R DR | ALS2CR11 | 2 | 202352480 | rs72939119 | missense | 0.02 | 1038 | 1.66 | 0.31 | 5.7 × 10−8 | 0.0027 | 0.003 |
FAT3 | 11 | 92577659 | rs75081660 | missense | 0.01 | 1038 | 2.07 | 0.43 | 1.4 × 10−6 | 0.032 | 0.06 | |
TMT B-Aa | RYR1 | 19 | 39018347 | rs55876273 | missense | 0.02 | 867 | −34.84 | 6.26 | 2.6 × 10−78 | 6.4 × 10−4 | 0.001 |
IFT140 | 16 | 1652418 | rs146128830 | missense | 0.01 | 867 | −37.05 | 6.67 | 2.7 × 10−08 | 6.4 × 10−4 | 0.001 | |
MTCL1 | 18 | 8806925 | rs34877994 | missense | 0.01 | 867 | −41.13 | 8.27 | 6.7 × 10−7 | 0.0096 | 0.03 | |
MOCS3 | 20 | 49576664 | rs7269297 | missense | 0.01 | 867 | −36.47 | 7.40 | 8.2 × 10−7 | 0.0096 | 0.04 | |
Intergenic | 9 | 97314741 | rs16910061 | intergenic | 0.02 | 867 | −28.13 | 6.07 | 3.6 × 10−6 | 0.034 | 0.17 | |
RASAL3 | 19 | 15565646 | rs56209154 | missense | 0.02 | 867 | −29.23 | 6.46 | 6.0 × 10−6 | 0.047 | 0.28 | |
JoLOb,c | GBAd | 1 | 155206167 | rs2230288 | missense | 0.03 | 919 | −143.61 | 25.16 | 1.2 × 10−8 | 2.7 × 10−4 | 2.8 × 10−4 |
ACSBG2 | 19 | 6141593 | rs79266675 | missense | 0.02 | 919 | 159.86 | 29.67 | 7.1 × 10−8 | 8.3 × 10−4 | 0.003 | |
Intergenic | 9 | 8230433 | rs1984216 | intergenic | 0.43 | 919 | −44.12 | 9.66 | 4.9 × 10−6 | 0.033 | 0.23 |
Key: Chr, chromosome; HVLT-R, Hopkins Verbal Learning Test-Revised; DR, delayed recall; TR, total recall; JoLO, Benton Judgment of Line Orientation; MAF, minor allele frequency; MoCA, Montreal Cognitive Assessment; PFDR, false discovery rate-corrected P-value; PFWE, family wise error-corrected P-value; TMT, Trail Making Test.
Not administered at University of Pennsylvania
Not administered at University of California, Los Angeles
Based on square-transformed scores.
Not shown are results from four SNPs in neighboring genes (rs71628662 [ASH1L], rs12726330 [SLC50A1], rs71630614 [LMNA], rs34372695 [RAB25]) that were each highly correlated with GBA rs2230288 (see Supplementary Materials for details).