Table 2.
Reference frequencies of KCNE1 coding variants in Caucasians as reported for unrelated, healthy controls. Of these, five control populations ([36,52,58,59,60], total N=938) have been systematically screened for mutations and serve as a reference for the novel V47I variant. One further study involving 100 Canadian controls [31] was excluded as allele frequencies were missing. Data reported by Prystupa et al.[26] are given in brackets to indicate a likely misallocation of major and minor alleles. When this figure is excluded, exact tests of allelic association conducted with reference populations and the tinnitus sample give non-significant (n.s.) results throughout.
| healthy controls (Nunrelated) | source | fSer28(TCA) | vs. fSer28(TCA) in present study (p) | fSer38 | vs. fSer38 in present study (p) | fIle47 | vs. fIle47 in present study (p) | fAsn85 | vs. fAsn85 in present study (p) |
|---|---|---|---|---|---|---|---|---|---|
| U.S., European descent (187) | [36] | 0.000 | n.s. | - | - | 0.000 | n.s. | - | - |
| Dutch (32) | [58] | 0.000 | n.s. | 0.33 | n.s. | 0.000 | n.s. | 0.000 | n.s. |
| German (141) | [59] | - | - | - | - | 0.000 | n.s. | - | - |
| French (398) | [60,62] | 0.000 | n.s. | 0.372 | n.s. | 0.000 | n.s. | 0.018 | n.s. |
| Polish (129) | [26] | - | - | (0.582) | (<0.0001) | - | - | - | - |
| German (3,916) | [63] | - | - | 0.368 | n.s. | - | - | - | - |
| Finnish (5,043) | [64] | - | - | - | - | - | - | 0.014 | n.s. |
| U.S., European descent (180) | [51] | 0.006 | n.s. | 0.378 | n.s. | 0.000 | n.s. | 0.008 | n.s. |
| Central Europeans (59) | [27] HapMap CEU | - | - | 0.381 | n.s. | - | - | 0.008 | n.s. |
| Caucasian panel (47) | [27] Coriell Cell Repository R31 CAU | - | - | 0.394 | n.s. | - | - | 0.021 | n.s. |