Test for Interaction between Two Unlinked Loci

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Test for Interaction between Two Unlinked Loci Jinying Zhao, Li Jin, Momiao Xiong  The American Journal of Human Genetics  Volume 79, Issue 5, Pages 831-845 (November 2006) DOI: 10.1086/508571 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 LD between two unlinked loci in a disease population under three two-locus disease models as a function of allele frequency at the first locus, under the assumption that the allele frequency at the second locus equals 0.1. The American Journal of Human Genetics 2006 79, 831-845DOI: (10.1086/508571) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 Measure of interaction between two unlinked loci as a function of the penetrance parameter under six two-locus disease models, under the assumption that allele frequencies at the first and second loci equal either 0.3 and 0.8, respectively (A), or 0.2 and 0.4, respectively (B). The American Journal of Human Genetics 2006 79, 831-845DOI: (10.1086/508571) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 3 Null distribution of the test statistic TI by use of 150 individuals (A) or 250 individuals (B) from both the cases and the controls in a homogeneous population. The American Journal of Human Genetics 2006 79, 831-845DOI: (10.1086/508571) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 4 Null distribution of the test statistic TI by use of 300 individuals from both the cases and the controls in an admixed population. The American Journal of Human Genetics 2006 79, 831-845DOI: (10.1086/508571) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 5 Power of the test statistic TI and logistic regression analysis as a function of interaction odds ratio (RGH) under three different models. A, Recessive × recessive model, under the assumption that the risk allele frequencies at both loci G and H are 0.2, number of individuals in both cases and controls are 500, population risk is 0.001, significance level is 0.05, and odds ratios RG=5 and RH=5. B, Dominant × dominant model, under the assumption that the risk allele frequencies at both loci G and H are 0.1, number of individuals in both cases and controls are 500, population risk is 0.001, significance level is 0.05, and odds ratios RG=2 and RH=2. C, Additive × additive model, under the assumption that the risk allele frequencies at both loci G and H are 0.1, number of individuals in both cases and controls are 100, population risk is 0.001, significance level is 0.05, and odds ratios RG=2 and RH=2. The American Journal of Human Genetics 2006 79, 831-845DOI: (10.1086/508571) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 6 Power of the test statistic TI as a function of the interaction measure between two unlinked loci under a two-locus disease model. A, Dom ∪ Dom, under the assumption that the number of individuals in both cases and controls are 500, penetrance parameter f=1, allele frequency at the second locus is 0.1, and significance level is 0.05. B, Dom ∪ Rec, under the assumption that the number of individuals in both cases and controls are 250, penetrance parameter f=1, allele frequency at the second locus is 0.1, and significance level is 0.05. C, Rec ∪ Rec, under the assumption that the number of individuals in both cases and controls are 500, penetrance parameter f=1, allele frequency at the second locus is 0.5, and significance level is 0.05. The American Journal of Human Genetics 2006 79, 831-845DOI: (10.1086/508571) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 7 Power of the test statistic TI as a function of allele frequency at the first locus under a two-locus disease model. A, Dom ∪ Dom, under the assumptions that the number of individuals in both cases and controls are 500, penetrance parameter f=1, allele frequency at the second locus is 0.1, and significance level is 0.05. B, Dom ∪ Rec, under the assumptions that the number of individuals in both cases and controls are 500, penetrance parameter f=1, allele frequency at the second locus is 0.1, and significance level is 0.05. C, Rec ∪ Rec, under the assumptions that the number of individuals in both cases and controls are 500, penetrance parameter f=1, allele frequency at the second locus is 0.1, and significance level is 0.05. The American Journal of Human Genetics 2006 79, 831-845DOI: (10.1086/508571) Copyright © 2006 The American Society of Human Genetics Terms and Conditions