scholarly journals Twin Studies in Sleep Medicine: A Review

2021 ◽  
Vol 9 (7) ◽  
Author(s):  
Catherine McCall ◽  
Glen Duncan ◽  
Nathaniel Watson

Sleep and sleep disorders are complex phenotypes with genetic, epigenetic, and environmental influences. Twin studies allow researchers to parse out how these factors influence variability in sleep outcomes such as sleep duration and quality, chronotype, and disorders such as insomnia, hypersomnia, sleep apnea, sleep-related movement disorders, and parasomnias. Twin studies assess the overlap in genetic influences for sleep variance and other medical and psychiatric disorders and allow exploration of gene-environment interactions. Longitudinal twin studies demonstrate how these interactions change over the course of a lifetime. In general, twin studies demonstrate that the heritability of common sleep measures such as duration, quality, and chronotype is about 30-50%; however, this can vary widely between samples according to age, sex, comorbidities, and geographic location. Similarly, the heritability of sleep disorders including insomnia, obstructive sleep apnea, and parasomnias is also around 30-50%, with higher estimates for disorders known to run in families, such as sleepwalking. Heritability estimates for medical and psychiatric problems including obesity, depression, post-traumatic stress disorder, and mortality are higher with short sleep duration (typically < 7 h/n), suggesting that short sleep activates disease-related gene expression. Significant genetic overlap exists between insomnia and issues such as obesity, chronic pain, depression, and psychosis. In this review, we describe the major findings of twin studies related to sleep and how they impact our understanding of this critical component of health and disease.

Author(s):  
Ian M. Greenlund ◽  
Jason R. Carter

Short sleep duration and poor sleep quality are associated with cardiovascular risk, and sympathetic nervous system (SNS) dysfunction appears to be a key contributor. The present review will characterize sympathetic function across several sleep disorders and insufficiencies in humans, including sleep deprivation, insomnia, narcolepsy, and obstructive sleep apnea (OSA). We will focus on direct assessments of sympathetic activation (e.g., plasma norepinephrine and muscle sympathetic nerve activity), but include heart rate variability (HRV) when direct assessments are lacking. The review also emphasizes sex as a key biological variable. Experimental models of total sleep deprivation and sleep restriction are converging to support epidemiological studies reporting an association between short sleep duration and hypertension, especially in women. A systemic increase of SNS activity via plasma norepinephrine is present with insomnia, and has also been confirmed with direct, regionally-specific evidence from microneurographic studies. Narcolepsy is characterized by autonomic dysfunction via both HRV and microneurographic studies, but with opposing conclusions regarding SNS activation. Robust sympathoexcitation is well documented in OSA, and is related to baroreflex and chemoreflex dysfunction. Treatment of OSA with continuous positive airway pressure results in sympathoinhibition. In summary, sleep disorders and insufficiencies are often characterized by sympathoexcitation and/or sympathetic/baroreflex dysfunction, with several studies suggesting women may be at heightened risk.


SLEEP ◽  
2017 ◽  
Vol 40 (suppl_1) ◽  
pp. A224-A224
Author(s):  
R Ren ◽  
Y Li ◽  
Y Zhang ◽  
J Zhou ◽  
L Tan ◽  
...  

PLoS ONE ◽  
2014 ◽  
Vol 9 (12) ◽  
pp. e115666 ◽  
Author(s):  
Pascaline Priou ◽  
Marc Le Vaillant ◽  
Nicole Meslier ◽  
Audrey Paris ◽  
Thierry Pigeanne ◽  
...  

Hypertension ◽  
2018 ◽  
Vol 72 (3) ◽  
pp. 610-617 ◽  
Author(s):  
Rong Ren ◽  
Naima Covassin ◽  
Linghui Yang ◽  
Yun Li ◽  
Ye Zhang ◽  
...  

2013 ◽  
Vol 09 (02) ◽  
pp. 153
Author(s):  
Soha Patel ◽  
Judette M Louis ◽  
◽  

The role of obstructive sleep apnea (OSA) in pregnancy is not well studied, but an increasing body of literature appears to indicate that there may be adverse maternal and fetal health effects of the disease. OSA is associated with a twofold risk for pre-eclampsia. The small size of the existing investigations still leave unanswered questions about the consequences of OSA as it relates to some other clinically relevant outcomes such as eclampsia, stillbirth, and maternal mortality. A consistent body of literature has emerged demonstrating an increased risk for insulin resistance and diabetes associated with OSA. However, among pregnant women, the association appears to be related to short sleep duration. Well-designed and adequately powered studies are required to further delineate the role of OSA and sleep duration on pregnancy outcome and the mechanisms of those effects.


SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A216-A217
Author(s):  
S Yin ◽  
H Xu ◽  
J Zou ◽  
C Zhang ◽  
J Guan ◽  
...  

Abstract Introduction Both short sleep duration and obstructive sleep apnea (OSA) seem to be associated with insulin resistance. However, the majority of previous studies addressing the relationship between OSA and insulin resistance did not evaluate short sleep duration, and vice versa. In this study, we used a large-scale hospital-based cross-sectional dataset, including 5,447 participants, to examine 1) whether objectively measured short sleep duration and OSA are independently associated with insulin resistance, and 2) whether the presence of OSA modulates the association between sleep duration and insulin resistance. Methods Participants were consecutively enrolled from our sleep center during the period from 2007 to 2017. The index of homeostasis model assessment insulin resistance (HOMA-IR) was calculated from insulin and glucose. Sleep duration was determined by standard polysomnography. The associations between sleep duration and insulin resistance were estimated by logistic regression analyses. Results A total of 5,447 participants (4507 OSA and 940 primary snorers) were included in the study. In comparison to primary snorers, OSA combined with extremely short sleep duration (&lt; 5 hours) increased the risk of insulin resistance by 34% (OR, 1.34; 95% CI, 1.01-1.77) after adjusting for confounding factors that are frequently associated with insulin resistance and OSA. In subgroup analysis stratified by sleep duration, the risk of insulin resistance in patients with a short sleep duration (5-6 hours or &lt; 5 hours) was increased in those with OSA compared to primary snorers, but not in the other three sleep duration groups (6 - 7, 7 - 8, and &gt; 8 hours). Conclusion OSA, but not short sleep duration, was independently associated with insulin resistance. It is worth noting that OSA combined with extremely short sleep duration showed a greater detrimental effect than OSA itself with regard to insulin resistance. Support This study was supported by grants-in-aid from Shanghai Municipal Commission of Science and Technology (Grant No.18DZ2260200).


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