The aims of this study were to examine 1) genetic and environmental influences on diurnal preference and sleep quality; 2) the association between these phenotypes; 3) the genetic and environmental influences on this association; and 4) the magnitude of overlap between these influences. Using a classic twin design, data on diurnal preference (measured by the 'Morningness-Eveningness Questionnaire') and sleep quality (measured by the 'Pittsburgh Sleep Quality Index') were collected from 420 monozygotic twins, 773 dizygotic twins and 329 siblings (mode age = 20 years, range = 18-27 years) from a population-based twin registry across the UK. Univariate analyses indicated that dominance genetic influence accounted for 52% and nonshared environment 48% of variance in diurnal preference. For sleep quality, additive genetic influence explained 43% and non-shared environment 57% of the variance.The bivariate analysis indicated a significant association between greater eveningness preference and poorer sleep quality (r = .27). There was substantial overlap in the additive genetic influences on both phenotypes (rA = .57) and overlap in the dominance genetic influences common to both phenotypes was almost absolute (rD = .99). Overlap in non-shared environment was much smaller (rE = .02). Additive genetic influence accounted for 2% of the association; dominance genetic influence accounted for 94%; and non-shared environmental influences accounted for the remaining 4%. The substantial overlap in genetic influence between these phenotypes indicates that similar genes are important for diurnal preference and sleep quality. Therefore, those genes already known to influence one phenotype may be possible candidates to explore with regards to the other phenotype.
Over the past 50 years, well over 100 twin studies have focussed on understanding factors contributing to variability in normal sleep-wake characteristics and sleep disturbances.Whilst we have gained a great deal from these studies, there is still much to be learnt. Twin studies can be used in multiple ways to answer questions beyond simply estimating heritability. This paper provides a comprehensive review of some of the most important findings from twin studies relating to sleep to date, with a focus on studies investigating genetic and environmental influences contributing to i) objective and subjective measures of normal sleep characteristics (e.g. sleep stage organisation, sleep quality); as well as sleep disturbances and disorders such as dyssomnias (e.g. insomnia, narcolepsy) and parasomnias (e.g. sleepwalking, bruxism); ii) the persistence of sleep problems from childhood to adulthood, and the possibility that the aetiological influences on sleep change with age; iii) the associations between sleep disturbances, emotional, behavioural and health-related problems; and iv) processes of gene-environment correlation and interaction. We highlight avenues for further research, emphasising the need to further consider the aetiology of longitudinal associations between sleep disturbances and psychopathology; the genetic and environmental overlap between sleep and numerous phenotypes; and processes of geneenvironment interplay and epigenetics.
Research investigating associations between specific genes and individual differences with regards to the quality and timing of sleep has primarily focussed on serotonin-related and clock genes. However, there are only a few studies of this type and most of those to date have not considered the possibility of gene-environment interaction. Here, we describe associations between sleep quality and diurnal preference and three functional polymorphisms: 5HTTLPR, PERIOD3, and CLOCK 3111. Furthermore, we assessed whether associations between genotypes and sleep phenotypes were moderated by negative life events-a test of gene-environment interaction. DNA from buccal swabs was collected from 947 individuals [mean age = 20.3 years (SD = 1.77), age range = 18-27 years; 61.8% female] and genotyped for the three polymorphisms. Participants completed the Pittsburgh Sleep Quality Index and the Morningness-Eveningness Questionnaire. There was a significant main effect of 5HTTLPR on sleep quality, indicating that "long-long" homozygotes experienced significantly poorer sleep quality (mean = 6.35, SD = 3.36) than carriers of at least one "short" allele (mean = 5.67, SD = 2.96; β = -0.34, P = 0.005). There were no main effects of 5HTTLPR on diurnal preference; no main effects of PERIOD3 or CLOCK on sleep quality or diurnal preference; and no significant interactions with negative life events. The main effect of the "long" 5HTTLPR allele contradicts previous research, suggesting that perhaps the effects of this gene are heterogeneous in different populations. Failure to replicate previous research in relation to PERIOD3 and CLOCK concurs with previous research suggesting that the effects of these genes are small and may be related to population composition.
Genetic and non-shared environmental factors are most important in explaining individual differences with regards to different components of sleep quality, although shared environment may influence sleep duration. The pattern of overlap in the genetic and environmental influences accounting for the associations between components of sleep quality is consistent with that seen in other areas of developmental psychopathology of general genes and specific non-shared environmental influences.
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