Table 1. Power of correctly identifying the disease SNP location using one pedigree.
All n cases sharing | n-1 cases sharing | ||||||
---|---|---|---|---|---|---|---|
| |||||||
Significant threshold for designation of high-risk | Significant threshold for designation of high-risk | ||||||
| |||||||
Prevalence | MAF | Penetrance | Attr. risk (%) | <0.00001 | <0.001 | <0.00001 | <0.001 |
0.50% | 0.005 | 0.5 | 100 | 53.6% | 52.8% | 56.6% | 55.9% |
0.2 | 40 | 30.3% | 25.5% | 38.9% | 33.5% | ||
0.0005 | 0.5 | 10 | 71.0%* | 42.3% | 86.2%* | 51.2% | |
0.2 | 4 | 48.5% | 17.5% | 65.9% | 23.3% | ||
0.00005 | 0.5 | 1 | 30.8% | 10.2% | 37.3% | 11.5% | |
0.2 | 0.4 | 32.4%* | 6.2% | 42.5%* | 6.7% | ||
| |||||||
1% | 0.005 | 0.5 | 50 | 68.9% | 54.2%* | 85.2% | 68.0%* |
0.2 | 20 | 24.2% | 19.7% | 33.2% | 25.7% | ||
0.0005 | 0.5 | 5 | 32.3% | 18.2% | 42.6% | 24.1% | |
0.2 | 2 | 39.8% | 9.2% | 62.5% | 11.8% | ||
0.00005 | 0.5 | 0.5 | 35.2% | 7.8% | 47.2% | 9.1% | |
0.2 | 0.2 | 12.6% | 5.4% | 17.6% | 5.6% |
Note: MAF, minor allele frequency. The number of cases (n) in a pedigree varied based on the genetic model and the high-risk threshold. For models with a prevalence of 1% the average number of cases was 8.2 and 9.7 for the high-risk thresholds of p<0.001, and p<0.00001, respectively. For models with a prevalence of 0.5% the average number of cases was 4.0 and 6.2 for the high-risk thresholds of p<0.001, and p<0.00001, respectively.
indicates a scenario also investigated by classical multipoint linkage analysis for comparison.