Abstract:) had very different lives, but in the minds of geneticists, the two are inextricably linked through the ownership of an apparently simple law called the Hardy-Weinberg law. We demonstrate that the simplicity is more apparent than real. Hardy derived the well-known trio of frequencies {q 2 , 2 pq, p 2 } with a concise demonstration, whereas for Weinberg it was the prelude to an ingenious examination of the inheritance of twinning in man. Hardy's recourse to an identity relating to the distribution of types amo… Show more
“…Current guidelines (48–52) suggest that the genotyping success rate should be 95% or higher and that the study should report the HWE, linkage equilibrium, or deviations of HWE. Of the 315 articles included in this review, 54 (17.1%) did not report HWE.…”
Research on the potential role of gene–environment interactions (GxE) in explaining vulnerability to psychopathology in humans has witnessed a shift from a diathesis-stress perspective to differential susceptibility approaches. This paper critically reviews methodological issues and trends in this body of research. Databases were screened for studies of GxE in the prediction of personality traits, behavior, and mental health disorders in humans published between January 2002 and January 2015. In total, 315 papers were included. Results showed that 34 candidate genes have been included in GxE studies. Independent of the type of environment studied (early or recent life events, positive or negative environments), about 67–83% of studies have reported significant GxE interactions, which is consistent with a social susceptibility model. The percentage of positive results does not seem to differ depending on the gene studied, although publication bias might be involved. However, the number of positive findings differs depending on the population studied (i.e., young adults vs. older adults). Methodological considerations limit the ability to draw strong conclusions, particularly as almost 90% (n = 283/315) of published papers are based on samples from North America and Europe, and about 70% of published studies (219/315) are based on samples that were also used in other reports. At the same time, there are clear indications of methodological improvements over time, as is shown by a significant increase in longitudinal and experimental studies as well as in improved minimum genotyping. Recommendations for future research, such as minimum quality assessment of genes and environmental factors, specifying theoretical models guiding the study, and taking into account of cultural, ethnic, and lifetime perspectives, are formulated.
“…Current guidelines (48–52) suggest that the genotyping success rate should be 95% or higher and that the study should report the HWE, linkage equilibrium, or deviations of HWE. Of the 315 articles included in this review, 54 (17.1%) did not report HWE.…”
Research on the potential role of gene–environment interactions (GxE) in explaining vulnerability to psychopathology in humans has witnessed a shift from a diathesis-stress perspective to differential susceptibility approaches. This paper critically reviews methodological issues and trends in this body of research. Databases were screened for studies of GxE in the prediction of personality traits, behavior, and mental health disorders in humans published between January 2002 and January 2015. In total, 315 papers were included. Results showed that 34 candidate genes have been included in GxE studies. Independent of the type of environment studied (early or recent life events, positive or negative environments), about 67–83% of studies have reported significant GxE interactions, which is consistent with a social susceptibility model. The percentage of positive results does not seem to differ depending on the gene studied, although publication bias might be involved. However, the number of positive findings differs depending on the population studied (i.e., young adults vs. older adults). Methodological considerations limit the ability to draw strong conclusions, particularly as almost 90% (n = 283/315) of published papers are based on samples from North America and Europe, and about 70% of published studies (219/315) are based on samples that were also used in other reports. At the same time, there are clear indications of methodological improvements over time, as is shown by a significant increase in longitudinal and experimental studies as well as in improved minimum genotyping. Recommendations for future research, such as minimum quality assessment of genes and environmental factors, specifying theoretical models guiding the study, and taking into account of cultural, ethnic, and lifetime perspectives, are formulated.
“…Yet at its core, the HWE model is a sparse but fairly complete representation of evolutionary equilibrium. In this way, we can capture the static properties of a population (Stark and Seneta, 2013). In genetic association studies, a departure from HardyWeinberg equilibrium can be used to better understand the genetic structure of common diseases (Wittke- Thompson et al, 2005).…”
“…The notation used here is a modified version of that given in Stark & Seneta [7,9]. Identity (7) allows for non-random mating (NRM) as well as random mating (RM).…”
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The Hardy-Weinberg Principle explains how random mating can produce and maintain a population in equilibrium, that is: with constant genotypic proportions. The Hardy-Weinberg formula is in constant use as a basis for developing population genetics theory. Here we give a complete description of a model which can sustain equilibrium but with a general mating system, thereby giving a much broader basis on which to develop population genetics. It was S. N. Bernstein who first showed how Mendel's first law could be justified simply on the basis of observations of populations in equilibrium. We show how the model can be applied to exploring the change in incidence of a genetic disorder.
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