Epidemiological effect size of causative mutations at a single locus under two different penetrance models.

<p>The distribution of the log₁₀ odds ratio (log₁₀OR) is depicted for prevalence 0.1%-1.0% (A,D), 1%-5% (B,E) or 10%-20% (C,F), adopting either a multiplicative (A,B,C) or a logistic penetrance model (D,E,F). Blue: multiplicative model parameter γ = 0.3, logistic model parameters <i>α</i> = -5; <i>β</i> = 1; Red:γ = 0.1, <i>α</i> = -5; <i>β</i> = 0.5.</p

Epidemiological effect size of causative mutations at two unlinked loci under two different penetrance models.

<p>See legend to <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0132150#pone.0132150.g003" target="_blank">Fig 3</a> for details.</p

Relationship between epidemiological effect size (log₁₀OR) and frequency of causative mutations at two unlinked loci under two different penetrance models.

<p>See legend to <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0132150#pone.0132150.g004" target="_blank">Fig 4</a> for details.</p

Proportion of epidemiologically protective mutations at two unlinked loci under two different penetrance models.

<p>OR: odds ratio</p><p>Proportion of epidemiologically protective mutations at two unlinked loci under two different penetrance models.</p

Disease risk as a function of the number of mutations present under two different penetrance models.

<p>(A) Multiplicative model with parameter γ = 0.3 (blue) or γ = 0.1 (red). (B) Logistic model with parameters <i>α</i> = -5; <i>β</i> = 1 (blue) or <i>α</i> = -5; <i>β</i> = 0.5 (red).</p

Spectrum of causative mutations at a single locus arising under two different penetrance models.

<p>IQR: inter-quartile range</p><p>Spectrum of causative mutations at a single locus arising under two different penetrance models.</p

Proportion of epidemiologically protective mutations at a single locus under two different penetrance models.

<p>OR: odds ratio</p><p>Proportion of epidemiologically protective mutations at a single locus under two different penetrance models.</p

Relationship between epidemiological effect size (log₁₀OR) and frequency of causative mutations at a single locus under two different penetrance models.

<p>Prevalence 0.1%-1.0% (A,D), 1%-5% (B,E) or 10–20% (C,F); multiplicative model with γ = 0.1 (A,B,C), logistic model with <i>α</i> = -5; <i>β</i> = 0.5 (D,E,F).</p

Effect size (log₁₀OR) of trait-associated genetic variants vs. trait prevalence.

<p>The analysis was based upon data for 31 traits from the GWAS catalogue. Grey dots: trait-specific effect size (log₁₀OR) in the GWAS catalogue with reported prevalence between 0.1 and 20% (i.e. 1834 associations with p<5x10^-4); blue dots: median log₁₀OR per trait; red line: linear regression line for log₁₀OR versus trait prevalence (p<10⁻¹⁵); blue line: linear regression line for median log₁₀OR versus trait prevalence (p = 0.049).</p

Observed proportion of epidemiologically protective causative mutations vs. number of unlinked loci underlying disease etiology.

<p>Bold solid line: pandemic disease (prevalence 10%-20%); Thin solid line: common disease (1%-5%); Dashed line: rare disease (0.1%-1.0%). (A) Multiplicative model with parameter value γ = 0.3 (blue) or γ = 0.1 (red). (B) Logistic model with parameter values <i>α</i> = -5; <i>β</i> = 1 (blue) or <i>α</i> = -5; <i>β</i> = 0.5 (red).</p