Table 3 GWASs in the ALS field
From: Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
Cohort | Size of discovery cohort | Representative identified gene | Role of gene product | References |
|---|---|---|---|---|
European | 12,577 sporadic ALS (RefMap) | KANK1 (KN Motif And Ankyrin Repeat Domains 1) | cytoskeleton/ actin polymerization | Zhang S (2022) |
Cross-ancestry | 29,612 ALS | neuron-specific 15 risk loci including UNC13A | Â | van Rheenen W (2021) |
European and Chinese | 84,694 (meta-analysis) | ACSL5-ZDHHC6 | fatty acid metabolism | Iacoangeli A (2020) |
Japanese | 1173 sporadic ALS | ACSL5 (Acyl-CoA Synthetase Long-Chain Family Member 5) | fatty acid metabolism | Nakamura R (2020) |
Caucasian and US | 20,806 ALS | KIF5A (Kinesin Family Member 5A) | axonal transport | Nicolas A (2018) |
European and Chinese | 13,811 sporadic ALS | GPX3(glutathione peroxidase 3)-TNIP1 (TNFAIP3 Interacting Protein 1) | antioxidant and inflammation | Benyamin B (2017) |
Australia, European, Turkey | 1861 ALS | C21orf2/CFAP410 (Cilia And Flagella Associated Protein 410) | cilia | van Rheenen W (2016) |
Caucasian | 2869 ALS | TBK1(TANK-binding kinase 1); NEK1 (NIMA Related Kinase 1) | autophagy; cilia/cell cycle | Cirulli ET (2015) |
European, US | 363 familial ALS probands | TUBA4A (Tubulin Alpha 4a) | cytoskeleton | Smith BN (2014) |
European, US | 6100 sporadic ALS | SARM1 (Sterile Alpha And TIR Motif Containing 1) | axonal regeneration | Fogh I (2014) |
Han Chinese | 508 sporadic ALS | CAMK1G | Calcium kinase signaling | Deng M (2013) |
Japan | 92 ALS | ZNF512B (Zinc Finger Protein 512B) | unknown | Iida A (2011) |
European, US | 2261 sporadic ALS | CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1) | cholesterol metabolism | Diekstra FP (2012) |
European, US | 1821 sporadic ALS | KIFAP3 (Kinesin-Associated Protein 3) | neurite outgrowth | Landers JE (2009) |
European, US | 2323 sporadic ALS | UNC13A (Unc-13 Homolog A), MOBKL2B (Mps One Binder Kinase Activator-Like 2B) | synapse formation, kinase activity | van Es MA (2009) |
European, US | 1767 ALS | DPP6 (Dipeptidyl Peptidase Like 6) | neuronal excitability | van Es MA (2008) |
Netherlands | 461 ALS | ITPR2 (Inositol 1,4,5-Trisphosphate Receptor Type 2) | Glutamate mediated neurotransmission, apoptosis | van Es MA (2007) |
Caucasian | 386 sporadic ALS | FLJ10986 | carbohydrate phosphorylation | Dunckley T (2007) |
