Allele and genotype frequencies of ATG7 V471A polymorphism.

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. aAllele frequency of nucleotide substitution in ATG7 is described by V ( = valine) as major allele and A ( = alanine) as rare allele.