Table 2:
Role of GCH1 in PD - Summary of previous reports
| Article | Role in PD |
#controls | #cases | Diagnosis of cases | Ethnicity | GCH1 findings |
|---|---|---|---|---|---|---|
| Hertz et al., 2006 | No | 0 | 87 | EOPD | Danish | No pathogenic GCH1 variants found |
| Cobb et al., 2009 | No | 0 | 53 | familial EOPD, 21 with EOPD+dystonia | North-American Caucasian | No coding changes/CNV |
| Momma et al., 2009 | Yes | 96 | 2 | EOPD | Chinese | 1 rare mutation found in patients |
| Mencacci et al., 2014 | Yes | 5935 | 1318 | PD | North-American of European descent, Estonians | 11 different heterozygous variants at low frequency, 4 of them associated with DRD |
| Nalls et al., 2014 | Yes | 95282 | 13708 | PD | European ancestry | GWAS signal |
| Newman et al., 2014 | No | 862 | 1105 | PD/dystonia | Australian | No association between PD and the analyzed SNPs |
| Weissbach et al., 2014 | Yes | 0 | 15 | PD/Parkinsonism/dystonia | N/A | GCH1 mutation carriers with parkinsonism and idiopathic PD (one had dystonia) |
| Guella et al., 2015 | Yes | 290 | 528 | 361PD/167 atypical Parkinsonism+DLB+MSA+PSP | N/A | Rare heterozygous nonsynonymous substitutions found in patients |
| Lewthwaite et al., 2015 | Yes | 6 | 6 | 2EOPD, 1 Parkinsonism, 3DRD | Caucasian | 1 novel heterozygous substitution found in a very conserved region |
| Bandres-Ciga et al., 2016 | No | 0 | 134 | 97LOPD/28EOPD/9FPD | South Spanish | No mutation carriers for GCH1 |
| Chen et al., 2016 | Yes | 553 | 528 | PD | Taiwanese | rs11158026 increased the risk of developing PD |
| Rengmark et al., 2016 | No | 230 | 509 | LOPD | Norwegian/Swedish | No pathogenic GCH1 variants found |
| Safaralizadeh et al., 2016 | Yes | 1200 | 600 | PD (excluded EOPD,FPD) | Iranian | Replicated the association of rs11158026 with PD |
| Chang et al., 2017 | Yes | 302042 | 6476 | PD | European ancestry | GWAS signal |
| Xu et al., 2017 | Yes | 1565 | 1758 | PD | Chinese | 7 rare heterozygous non-synonymous mutations in patients |
| Yang et al., 2017 | No | 634 | 589 | sporadic PD (FPD excluded) | Han Chinese | No association of rs11158026 with PD |
| Yan et al., 2018 | Yes | 438 | 421 | 170EOPD/251LOPD(FPD excluded) | Han Chinese | 1 LOPD patient (maybe +dystonia) with rare GCH1 mutation(+1 found earlier) |
| Zou et al., 2018 | No | 624 | 579 | sporadic PD (FPD excluded) | East Asians | No association of rs11158026 with PD |
CNV, copy number variation; DLB, dementia with Lewy Bodies; DRD, dopa-responsive dystonia; EOPD, early-onset PD; FPD, familial PD; GWAS, genome wide association study; LOPD, late onset PD; MSA, multiple system atrophy; PSP, progressive supranuclear palsy