Table 2.
Characteristics of identified SNPs in elastic net analysis.
| MAFc |
|||||||
|---|---|---|---|---|---|---|---|
| Gene | SNP | Locationa | Transcriptb | Protein | ParkWest | 1,000 genomes | Association with impulse control disorders in ParkWestd |
| DRD1 | rs5326 | 5:175443193 | c.-94G > A | 0.14 | 0.17 | + | |
| DRD2 | rs6277 | 11:113412737 | c.957C > T | p.Pro319Pro | 0.50 | 0.24 | + |
| OPRM1 | rs677830 | 6:154107531 | c.1231C > T | p.Gln411Ter | 0.29 | 0.15 | − |
| OPRK1 | rs702764 | 8:53229597 | c.843A > G | p.Ala281Ala | 0.11 | 0.24 | − |
| GRIN2B | rs11055581 | 12:13675725 | c.1125 + 20A > G | 0.18 | 0.10 | − | |
| COMT | rs4646318 | 22:19967324 | c.466 − 1212G > A | 0.07 | 0.07 | − | |
| TPH2 | rs4290270 | 12:72022455 | c.1125A > T | p.Ala375Ala | 0.64 | 0.49 | − |
| DRD5 | rs6283 | 4:9783007 | c.978C > T | p.Pro326Pro | 0.60 | 0.39 | − |
| GRIN2B | rs7301328 | 12:13865843 | c.366C > G | p.Pro122Pro | 0.46 | 0.44 | − |
| DDC | rs4490786 | 7:50476616 | c.1041 + 8G > A | 0.18 | 0.20 | + | |
| COMT | rs4646315 | 22:19964374 | c.615 + 75G > C | 0.19 | 0.17 | + | |
SNPs, single-nucleotide polymorphisms; MAF, minor allele frequency.
aGenome location in GRCh38 assembly.
bTranscript position of most severe consequence according to the Human Genome Variation Society guidelines (28).
cMAF in the patients of the ParkWest cohort or 1,000 genomes project.
d“+” indicated a positive association with ICDs in the ParkWest cohort and “−” indicates a negative association with ICDs in the Park cohort.