TABLE 2.
Effect of the c.-237_236GA>TT sequence variant on relative THAP1 expression levels in leukocytes and lymphoblastoid cells
| Genotype/phenotype | RNA Leukocytes |
RNA Lymphoblastoid cell lines |
Protein Lymphoblastoid cell lines |
|---|---|---|---|
| Heterozygous c.-237_236GA>TT Primary dystonia |
1.043 ± 0.036* (n=20) |
0.973 ± 0.065 (n=5) |
0.811 ± 0.146 (n=5) |
| Homozygous GA allele Neurologically-normal controls |
1.011 ± 0.032 (n=24) |
1.020 ± 0.065 (n=10) |
1.000 ± 0.074 (n=10) |
| P-value** | 0.508 | 0.617 | 0.292 |
*
All values are means ± SEM.
**
Difference between dystonia and control samples.