Table 3. Allele and genotype frequencies, Hardy-Weinberg distribution and analysis of covariance of ATG7 V471A in different European populations.
Country | Allele frequencya | Genotype frequency | Hardy-Weinberg | ANOVAc P-value | |||
V | A | VV | VA | AA | |||
Denmark (n = 101) | 0.960 | 0.040 | 0.921 | 0.079 | 0.000 | 1.000 | 0.7797 |
France (n = 134) | 0.981 | 0.019 | 0.963 | 0.037 | 0.000 | 1.000 | 0.8140 |
Netherlands (n = 174) | 0.983 | 0.017 | 0.966 | 0.034 | 0.000 | 1.000 | 0.5537 |
Poland (n = 242) | 0.988 | 0.012 | 0.975 | 0.025 | 0.000 | 1.000 | 0.3862 |
Spain (n = 168) | 0.970 | 0.030 | 0.940 | 0.060 | 0.000 | 1.000 | 0.1481 |
UK (n = 347) | 0.970 | 0.030 | 0.939 | 0.061 | 0.000 | 1.000 | 0.2611 |
Germany (n = 371)b | 0.958 | 0.042 | 0.917 | 0.083 | 0.000 | 1.000 | 0.2988 |
Italy (n = 327) | 0.946 | 0.054 | 0.893 | 0.107 | 0.000 | 0.6122 | 0.0238* |
Populations with ≥100 examined HD patients are shown; n number of investigated HD patients.
Allele frequency of nucleotide substitution in ATG7 is described by V ( = valine) as major allele and A ( = alanine) as rare allele.
Compared to the number of investigated patients in the previous study [20] we managed it to re-genotype 25 HD patients of the 1st European HD cohort, which failed during the first genotyping.
Analysis of covariance showing the effect of the ATG7 V471A polymorphism on the HD AAO in the respective population.
significant effect, the level of significance was set to P = 0.05 and the p-value was adjusted for multiple testing according to Bonferroni correction.