Table 3.
Population genetic analyses of the A112G-SNP (rs1805127) encoding the Gly38Ser polymorphism of KCNE1
| HapMap-sample | Genotype counts | Allele frequency | Test statistic | ||||
| AA | GA | GG | |||||
| (number of individuals) | Homozygotes 38Ser | Heterozygotes Gly38Ser | Homozygotes 38Gly | A | G | Fis | p-value |
| Central Euro-peans (120) | O = 14 E = 18 |
O = 64 E = 57 |
O = 42 E = 46 |
0.383 | 0.617 | -0.124 | 0.110 |
| Han Chinese, Beijing (90) |
O = 12 E = 14 |
O = 48 E = 43 |
O = 30 E = 32 |
0.400 | 0.600 | -0.106 | 0.223 |
| Japanese, Tokyo (88) | O = 8 E = 8 |
O = 36 E = 37 |
O = 44 E = 44 |
0.295 | 0.705 | +0.023 | 0.660 |
| Yoruba, Nigeria (120) | O = 0 E = 11 |
O = 72 E = 51 |
O = 48 E = 59 |
0.300 | 0.700 | -0.425 | 0.003 |
Comparison of the observed (O) and expected (E) genotype counts reveals a general trend for less observed homozygotes and more observed heterozygotes than expected. In case of the Yoruban sample, the heterozygote excess is even significant (see fixation index, Fis, and probability for deviation from Hardy-Weinberg equilibrium, p-value).