Table 2.
Population sample | Proportion of phase-unknown multiple heterozygotesa | NAT2 gene diversityb | Deviation from the Hardy-Weinberg equilibrium (exact p-value)c |
258 Spanish [45] | 66.7% | 0.65 | 0.012 |
137 Nicaraguans [30] | 59.1% | 0.70 | 0.072 |
112 UK Caucasians [24] | 52.7% | 0.69 | 0.222 |
101 Black South Africans [24] | 63.4% | 0.86 | 0.122 |
1000 Koreans [31] | 50.0% | 0.52 | 0.016 |
All population samples were genotyped for the same seven nucleotide changes (G191A, C282T, T341C, C481T, G590A, A803G, G857A), except Koreans where the C190T mutation was investigated instead of G191A.
aProportion of multiply heterozygous individuals with ambiguous genotype whose phase has been resolved molecularly.
bExpected heterozygosities for the NAT2 haplotyped system were estimated as where n is the number of gene copies in the sample, and pi is the sample frequency of the i-th haplotype.
cThe significance of deviations from Hardy-Weinberg equilibrium was tested for genotypic data with known gametic phase using the random-permutation procedure implemented in the Arlequin package [51]: a Fisher's exact test using a Markov chain random walk algorithm was performed for each data set. The resulting p-values were considered significant if inferior to 0.05 (significant p-values are shown in bold).