Table 1. Allele and genotype frequencies of ATG7 V471A polymorphism.
| Group | Allele frequencya | Genotype frequency | |||
| V | A | VV | VA | AA | |
| EHDN REGISTRY cohort (n = 1464) | 0.961 | 0.039 | 0.947 | 0.053 | 0.000 |
| 1st European cohort (n = 918) | 0.960 | 0.040 | 0.919 | 0.081 | 0.000 |
| Controls (n = 60) | 0.967 | 0.033 | 0.933 | 0.067 | 0.000 |
The nomenclature for numbering of changes at nucleotide or amino acid level follows general rules [30].
The observed genotypes did not differ from expectations under Hardy-Weinberg equilibrium (EHDN REGISTRY cohort: P = 1.000; 1st European cohort: P = 0.3920; controls: P = 1.000 [20]).
Genotype frequencies of Atg7 V471A in EHDN REGISTRY patients differ significantly from the respective frequencies in HD patients of the previous cohort (P = 0.0007).
n, number of investigated persons whose genotype could be determined.
a
Allele frequency of nucleotide substitution in ATG7 is described by V ( = valine) as major allele and A ( = alanine) as rare allele.