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. 2010 Dec 20;5(12):e14318. doi: 10.1371/journal.pone.0014318

Table 3. Detection Probabilities for High-Risk Variants.

Selection Inline graphic Inline graphic Inline graphic Inline graphic
Single gene model
All Individuals 0.010 0.010 0.010 0.010
Cases 0.015 0.020 0.029 0.048
w/affected sibs 0.019 0.029 0.057 0.130
sharing 1 or 2 IBD 0.020 0.032 0.066 0.155
sharing 2 IBD 0.022 0.039 0.083 0.201
With a second, nuisance locus
All Individuals 0.010 0.010 0.010 0.010
Cases 0.014 0.019 0.028 0.045
w/affected sibs 0.017 0.026 0.049 0.109
sharing 1 or 2 IBD 0.018 0.029 0.056 0.130
sharing 2 IBD 0.020 0.034 0.070 0.169

In each scenario there is a sporadic disease rate of 1% and the high-risk allele of interest elevates the disease risk by a factor of Inline graphic, which varies across columns. The rows represent increasingly restrictive sampling rules, and the probability that the high risk allele is present (one or two copies) in a sampled proband is tabulated. In the upper half of the table, risk depends only on one locus. In the lower half, there is also a nuisance locus, with a 5 percent allele frequency, i.e. 10 times as common as the allele of interest, and additive with its effect.