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Licensed Unlicensed Requires Authentication Published by De Gruyter June 27, 2012

Performance of MAX Test and Degree of Dominance Index in Predicting the Mode of Inheritance

  • Elias Zintzaras and Mauro Santos


We evaluate power performance to detect the correct mode of inheritance in gene-disease associations of two different approaches: the MAX test and the degree of dominance index or h-index. The MAX test is a special case of the conditional independence tests that simultaneously test for association and select the most likely genetic model based on a three-dimensional normal distribution. The h-index is based on the philosophy of using orthogonal contrasts to infer the mode of inheritance quantitatively. A population genetic model is developed where the real mode of inheritance is known a priori and power performance can be accurately determined. The simulations showed that none of the two approaches generally outperforms the other, nor each of them provides a panacea to estimate efficiently the mode of inheritance in all parameter space. However, the simultaneous application of both approaches can provide insights in determining the underlying mode of inheritance.

Published Online: 2012-6-27

©2012 Walter de Gruyter GmbH & Co. KG, Berlin/Boston

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