ArticleBMC medical research methodology2011
Estimating the mode of inheritance in genetic association studies of qualitative traits based on the degree of dominance index.
Article in BMC medical research methodology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 of them syntheses that pooled it.
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21 citing papers in PubMed, 3 syntheses or guidelines pooled it.
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- Association ofJournal of biosciences · 2019Article
- Genetic model misspecification in genetic association studies.BMC research notes · 2017Article
- Association between Nicotinamide N-Methyltransferase Gene Polymorphisms and Obesity in Chinese Han Male College Students.BioMed research international · 2017Article
- The -938C>A Polymorphism inDisease markers · 2016Article
- A combination of single nucleotide polymorphisms in the 3'untranslated region of HLA-G is associated with preeclampsia.Human immunology · 2014Article
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- Polymorphisms in nitric oxide synthase and endothelin genes among children with obstructive sleep apnea.BMC medical genomics · 2013Article
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Abstract
backgroundThe 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.
methodsWe 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.
resultsSimulations 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.
conclusionThe introduction of the degree of dominance provides useful insights into the mode of inheritance in GAS.
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