Table 1.
Summary of genes and loci that have been previously associated with essential tremor.
| Genes or loci (chr position) | Ethnic or geographic distribution | Study sample size (cases/controls) | Methodology used | References |
|---|---|---|---|---|
| ETM1 (3q13) | Icelandic | 16 families | Genome-wide scan | Gulcher et al., 1997 [6] |
| ETM2 (2p24.1) | American of Czech ancestry | 1 family | Genome-wide scan | Higgins et al., 1997 [7] |
| ETM3 (6p23) | North American | 7 families | Genome-wide scan | Shatunov et al., 2006 [8] |
| HS1-BP3 | North American | 2 families | Fine mapping studies | Higgins et al., 2005 [*] |
| DRD3 | French | 30 families | Candidate-gene approach | Lucotte et al., 2006 [†] |
| LINGO1 | Icelandic, European and American | 752/15,797 | GWAS | Stefansson et al., 2009 [10] |
| SLC1A2 | European | 658/1,490 | GWAS | Thier et al., 2012 [11] |
| FUS | French-Canadian | 1 family and 270 cases | Exome sequencing | Merner et al., 2012 [15] |
| HTRA2 | Turkish | 1 family | Exome sequencing | Unal Gulsuner et al., 2014 [16] |
| SORT1 | Spanish | 1 family and 151 cases | Exome sequencing | Sanchez et al., 2015 [17] |
| TENM4 | Spanish | 1 family and 299 familial cases | Exome sequencing and targeted resequencing | Hor et al., 2015 [18] |
| SCN4A | Spanish | 1 family, 76 sporadic and 47 familial cases | Exome sequencing | Bergareche et al., 2015 [19] |
| NOS3, KCNS2, HAPLN4, USP46 | North American | 37 families | Exome sequencing | Liu et al., 2016 [20] |
| STK32B, PPARGC1A, CTNNA3 | Northern European and North American | 2,807/6,441 | GWAS | Müller et al., 2016 [12] |
Key: chr, chromosomal; GWAS, Genome-wide association study.
*
J.J. Higgins, R.Q. Lombardi, J. Pucilowska, J. Jankovic, E.K. Tan, J.P. Rooney, A variant in the HS1-BP3 gene is associated with familial essential tremor, Neurology. 64 (2005) 417–421.
†
G. Lucotte, J.P. Lagarde, B. Funalot, P. Sokoloff, Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families, Clin. Genet. 69 (2006) 437–440.