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Estimating the mode of inheritance in genetic association studies of qualitative traits based on the degree of dominance index
dc.creator | Zintzaras, E. | en |
dc.creator | Santos, M. | en |
dc.date.accessioned | 2015-11-23T10:55:16Z | |
dc.date.available | 2015-11-23T10:55:16Z | |
dc.date.issued | 2011 | |
dc.identifier | 10.1186/1471-2288-11-171 | |
dc.identifier.issn | 1471-2288 | |
dc.identifier.uri | http://hdl.handle.net/11615/34977 | |
dc.description.abstract | Background: The biological justification for the choice of the genetic mode in genetic association studies (GAS) is seldom available. Then, the mode of inheritance is approximated by investigating a number of non-orthogonal genetic contrasts making the interpretation of results difficult. Methods: We propose to define the mode of inheritance by the significance of the deviance of the co-dominant contrast and the degree of dominance (h), which is a function of two orthogonal contrasts (the co-dominant and additive). Non-dominance exists when the co-dominant contrast is non-significant and, hence, the risk effect of heterozygotes lies in the middle of the risk of the two homozygotes. Otherwise, dominance (including over-and under-dominance) is present and the direction of dominance depends on the value of h. Results: Simulations show that h may capture the real mode of inheritance and it is affected by deviations from Hardy-Weinberg equilibrium (HWE). In addition, power for detecting significance of h when the study conforms to HWE rule increases with the degree of dominance and to some extent is related to the mutant allele frequency. Conclusion: The introduction of the degree of dominance provides useful insights into the mode of inheritance in GAS. | en |
dc.source | Bmc Medical Research Methodology | en |
dc.source.uri | <Go to ISI>://WOS:000301461800001 | |
dc.subject | MOLECULAR ASSOCIATION | en |
dc.subject | METAANALYSIS | en |
dc.subject | DISEASE | en |
dc.subject | RISK | en |
dc.subject | POLYMORPHISMS | en |
dc.subject | ENZYME | en |
dc.subject | ALLELE | en |
dc.subject | Health Care Sciences & Services | en |
dc.title | Estimating the mode of inheritance in genetic association studies of qualitative traits based on the degree of dominance index | en |
dc.type | journalArticle | en |
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