Table 1. Most significant SNPs identified through case-control (bilaterally deaf vs. controls) genome-wide association studies in Dalmatians, Australian cattle dogs, and English setters.
Breed | N | CFA | bp | SNP ID | af all (deaf/controls) | pvea | beta | P-value |
---|---|---|---|---|---|---|---|---|
Dalmatians North America | 20 deaf, 91 controls | 30 | 37,235,914 | BICF2P1106247 | 0.104 (0.300/0.060) | 0.167 | -0.353 | 7.25×10−6* |
30 | 33,816,254 | BICF2P113616 | 0.333 (0.625/0.269) | 0.155 | -0.222 | 1.60×10−5* | ||
23 | 48,506,877 | BICF2G630365393 | 0.441 (0.725/0.379) | 0.150 | -0.220 | 2.28×10−5* | ||
30 | 22,647,163 | BICF2G630405064 | 0.068 (0.200/0.038) | 0.130 | -0.408 | 8.93×10−5* | ||
37 | 27,255,309 | BICF2G630132623 | 0.243 (0.450/0.198) | 0.122 | -0.245 | 1.54×10−4* | ||
Dalmatians UK | 72 deaf, 43 controls | 38 | 21,626,523 | BICF2G63068103 | 0.152 (0.083/0.267) | 0.127 | 0.350 | 8.22×10−5* |
Australian cattle dogs | 16 deaf, 61 controls | 3 | 37,793,043 | BICF2G630338450 | 0.299 (0.656/0.205) | 0.277 | -0.313 | 6.46×10−7** |
3 | 17,067,881 | BICF2G630703558 | 0.117 (0.344/0.057) | 0.229 | -0.408 | 8.45×10−6* | ||
16 | 36,220,138 | BICF2P1229299 | 0.091 (0.281/0.041) | 0.213 | -0.453 | 1.91×10−5* | ||
6 | 10,527,823 | BICF2S23125774 | 0.240 (0.500/0.172) | 0.212 | -0.330 | 2.05×10−5* | ||
17 | 18,275,241 | chr17_18275241 | 0.110 (0.313/0.057) | 0.187 | -0.377 | 6.96×10−5* | ||
6 | 75,622,113 | BICF2P481353 | 0.071 (0.219/0.033) | 0.184 | -0.505 | 8.37×10−5* | ||
22 | 48,747,165 | BICF2G630335709 | 0.494 (0.188/0.574) | 0.181 | 0.239 | 9.66×10−5* | ||
9 | 8,460,580 | BICF2S23511312 | 0.130 (0.313/0.082) | 0.178 | -0.395 | 1.09×10−4* | ||
24 | 47,255,337 | TIGRP2P322787_rs9139922 | 0.136 (0.344/0.082) | 0.176 | -0.344 | 1.19×10−4* | ||
English setters | 11 deaf, 39 controls | 39 | 111,315,267 | BICF2G6304357 | 0.220 (0.421/0.154) | 0.192 | -0.276 | 1.20×10−3 |
af = allele frequency, beta = effect size, pve = proportion of variance explained
All bp positions are listed in canFam3.1 assembly
aCalculated using output of GEMMA with equation pve = 1/(1+(N*(se(beta)^2)/beta^2) where N = sample size, se(beta) = standard error of beta. This equation is simplified from Shim et al. (2015) [38]
**Significant association using genome-wide threshold determined from unlinked SNPs
*Suggestive association using threshold determined from unlinked SNPs at the chromosome level