Introduction: What Is Snoring?

Snoring is the loud or harsh sound from the nose or mouth that occurs when breathing is partially obstructed. The sound is produced when the soft palate and other soft tissues (such as uvula, tonsils, nasal turbinates, and others) in the upper airway vibrate.

Affecting nearly 90 million Americans, it can lead to disturbed, unrefreshing sleep, ultimately resulting in poor daytime function. Snoring is caused due to obstruction of air passage, resulting in the vibration of respiratory structures and the production of sound during breathing while asleep.

Snoring is more prevalent in males than in females. Certain risk factors such as genetic predisposition, throat weakness, obesity, mispositioned jaw, obstructive sleep apnea, sleep deprivation, alcohol consumption, and mouth breathing are associated with snoring.

How Do Genes Influence Snoring Risk?

Twin and family studies have identified the association between genetic factors and snoring risk, with heritability ranging between 18 to 28%.

A recent study published in 2019 leveraged data from a large U.K. Biobank study consisting of the Australian adult population to identify the molecular mechanisms associated with snoring.

MSRB3 Gene and Snoring

MSRB3 is associated with protein and lipid metabolism pathways, which are related to hippocampal volume (a region in the brain) and lung function. Such genetic associations are consistent with the findings that severe bouts of snoring may be due to:
- Nocturnal oxygen desaturation (temporary drop in oxygen levels in hemoglobin)
- Lowered neuropsychological functions, with reduced ability to consolidate memory.

rs10878269 And Snoring

The rs10878269 is G>A polymorphism located in the MSRB3 gene. A study by Jones, Samuel E., et al.2016 showed that variant rs10878269 was significantly associated with reduced snoring risk.

Non-genetic Influences On Snoring

• Mouth anatomy* : A low, thick, and soft palate can narrow down the airway and may result in snoring
• Nasal problems : Deviated nasal septum and nasal congestion can contribute to snoring.
• Sex : Men are more likely to snore or have sleep apnea than women.
• Obesity : Fatty tissues in the neck of obese/overweight people can narrow the airways and cause snoring.
• Sleep Deprivation : Not getting enough sleep can lead to throat relaxation.

Effects Of Snoring

Snoring is not often considered a serious health concern except in some conditions. Snoring can usually be cured through simple home remedies. Light and infrequent snoring is completely normal. Snoring that is linked to obstructive sleep apnea (OSA) is, however, worrisome and needs to be treated.

Tips For A Snore-free Sleep

1. Reduce the consumption of alcohol and sedatives as this relaxes your muscles and leads to snoring.
2. Maintain your weight as obesity and being overweight are risk factors for snoring and sleep apnea.
3. Change your sleeping position. When you sleep on your back, your airway has higher chances of getting blocked. Sleeping on your side, raising your head by a few inches, or using a pillow to improve your neck position are a few alternative sleep positions to try.
4. Relieve nasal congestion before you sleep.
5. Anti-snoring mouthpieces can be used to hold your jaw and tongue in a suitable position to prevent blockage of the airway,
6. Throat exercises can help strengthen the muscles and prevent them from collapsing during sleep.
7. Try to quit smoking. Smoking can result in inflammation in the upper airway passage, and this blocks airflow.

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Summary

1. Snoring is a common sleep disorder that affects over 90 million Americans. It is characterized by a loud noise from the nose/mouth due to an obstructed airway.
2. Genetic predisposition, throat weakness, obesity, mispositioned jaw, obstructive sleep apnea, sleep deprivation, alcohol consumption, and mouth breathing are some risk factors associated with snoring.
3. The MSRB3 gene, associated with protein and lipid metabolism pathways related to lung function and hippocampal volume, affects sleep-related snoring. The rs10878269 SNP, a G>A polymorphism, is associated with a reduced risk of snoring.
4. Snoring is not a serious health concern unless linked to other sleep disorders like Obstructive Sleep Apnea(OSA).
5. Changing your sleeping position, maintaining a healthy weight, reduced alcohol consumption and smoking, and throat exercises are some of the recommendations to have a snore-free sleep at night.

References

https://pubmed.ncbi.nlm.nih.gov/32060260/

Caffeine and Sleep

Caffeine is a central nervous system stimulant, which is widely used for its psychoactive effects. It is commonly used to alleviate behavioral, cognitive, and emotional deficits caused by sleep deprivation.

Regardless of its beneficial effects, caffeine may have adverse sleep-related consequences that might lead to sleep disruption and insomnia symptoms. This is because caffeine consumption is associated with lower levels of 6-sulfatoxymelatonin. 6-sulfatoxymelatonin is a substance produced during the metabolism of melatonin. It is involved in the regulation of circadian rhythm. Lower levels of 6-sulfatoxymelatonin can result in increased alertness (wakefulness).

How Does Genetics Influence The Risk of Caffeine-induced Insomnia?

CYP1A2 encodes cytochrome P-450 group of enzymes. These enzymes influence the absorption and metabolization of caffeine. Caffeine is absorbed rapidly and completely from the gastrointestinal tract. After absorption, the P-450 enzymes help with the metabolization. Variation in the CYP1A2 activity represents a major source of variability in the pharmacokinetics (drug absorption, distribution, metabolism, and excretion) of caffeine.

While the CYP1A2 gene is responsible for caffeine metabolism, another gene, ADORA2A, influences how your sleep is affected by caffeine intake. This gene encodes the adenosine receptor. When an adenosine molecule binds to this receptor, it inhibits all the processes that are associated with wakefulness. Caffeine acts as an adenosine receptor antagonist - it mimics adenosine and goes and binds to the adenosine receptor. This results in increased levels of free adenosine, leading to a boost in neuronal activity and wakefulness.

The adenosine A2A receptor (ADORA2A receptor) plays a role in the effects of caffeine on arousal. Mice lacking functional A2A receptors do not show increased wakefulness in response to caffeine administration, indicating that the A2A receptor mediates the arousal response.

rs5751876 and Caffeine-induced Insomnia

The rs5751876 is a T>C polymorphism located in the ADORA2A gene, which modulates the sleep-wake cycle, and contributes to individual sensitivity to caffeine effects on sleep.
Studies have documented that in caffeine consumers (less than 300mg), rs5751876 - T allele is associated with a decreased risk of sleep complaints and insomnia as compared to the C allele.

Non-genetic Influence on Caffeine-induced Insomnia Risk

1. Regular consumption - Researchers found that the effects of caffeine on sleep are higher in occasional coffee drinkers compared to those who drink coffee regularly.
2. Age and weight - Few studies have reported that older adults are more sensitive to the effects of caffeine compared to younger people. The exposure of caffeine in the body may also differ based on the weight of the person.
3. Time - Consuming caffeine closer to bedtime can disrupt sleep more than when consumed during the day.

Effects of Caffeine-induced Insomnia

If caffeine consumption is not wisely regulated, it could lead to delayed sleep and sleep deprivation. Sleep deprivation is associated with lapses in attention, lowered alertness, and reduction in cognitive function. Scientific studies have shown that a reduction in sleep time of 90 minutes could reduce objective alertness during the day time by one-third.

Tips for Regulating Caffeine Consumption

1. Moderate your consumption of caffeine. Do not drink caffeinated beverages post 5:00 pm or 5-6 hours before sleeping, as the effects of caffeine last for up to 6 hours after consumption.
2. Chamomile tea is considered to be a mild tranquilizer or sleep inducer. It contains the antioxidant apigenin, which may promote sleep.

Summary

1. Caffeine, a central nervous system stimulant, may have adverse sleep-related consequences that might lead to sleep disruption and insomnia.
2. Genes like CYP1A2 and ADORA2A influence caffeine-induced insomnia. CYP1A2 is related to caffeine metabolism while _ADORA2A influences how your sleep is affected by caffeine intake.
3. The T allele of rs5751876 SNP in the ADORA2A gene is associated with a decreased risk of insomnia than the C allele.
4. Age, weight, time of consumption, and frequency of consumption are the non-genetic influences on caffeine-induced insomnia.
5. Moderated caffeine consumption during the day at least 5-6 hours before sleep is recommended to prevent caffeine-induced insomnia. Chamomile tea can also be consumed as it is a sleep inducer.

Reference

https://pubmed.ncbi.nlm.nih.gov/31817803/
https://pubmed.ncbi.nlm.nih.gov/15965471/

What is Obstructive Sleep Apnea?

Obstructive Sleep Apnea (OSA) is a common, serious, and potentially life-threatening sleep disorder. It is characterized by frequent episodes of partial or complete upper airway obstruction during sleep.
This results in intermittent hypoxemia (low level of oxygen in the blood) and arousal.
Here, the throat muscles relax at irregular intervals and fail to keep the airway open. This results in inadequate breathing for 10 seconds or longer. Thus, the oxygen levels lower, and carbon dioxide levels build up. The brain interprets this as a need to open the airway and wakes you up in the process. This awakening is usually too brief to be remembered. A very noticeable sign of OSA is snoring.

More than 18 million American adults have been estimated to have sleep apnea.

How Does Genetics Influence the Risk of Obstructive Sleep Apnea?

Genes thought to be associated with the development of obstructive sleep apnea are involved in many body processes. They include:
- Communication between nerve cells
- Breathing regulation
- Control of inflammatory responses by the immune system
- Development of tissues in the head and face (craniofacial development)
- The sleep-wake cycle
- Appetite control

African-Americans and Pacific Islanders have more genetic variants associated with sleep apnea than Europeans. Variations in genes such as TNF, CRP, PLEK, PTGER3, LPAR1, HTR2A, and GDNF are associated with the risk of obstructive sleep apnea. Studies suggest that variations in multiple genes, each with a small effect, combine to increase the risk of developing the condition.

TNFA Gene and Obstructive Sleep Apnea

The TNFA gene encodes a proinflammatory cytokine (a molecule released by the T-immune cells) that belongs to the tumor necrosis factor (TNF) superfamily. It regulates various biological processes, including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. Studies have shown that TNF is involved in the regulation of sleep by influencing the adenosine receptor expression.

rs1800629 And Obstructive Sleep Apnea

The rs1800629 is G>A polymorphism located in the TNFA gene associated with increased transcriptional activity and higher TNF levels. This SNP has been studied to contribute to the pathogenesis of sleep disorders. Studies have shown that the rs1800629 - A allele carriers are associated with an increased risk of developing obstructive sleep apnea when compared to G allele carriers.

Non-genetic Influences On OSA Risk

Some non-genetic risk factors for OSA are:
- Narrowed airway
- Smoking
- Hypertension
- Obesity
- Gender
- Menopause
- Diabetes

According to a 2013 study, people with type 2 diabetes have nearly a 50% chance of being diagnosed with OSA. Both of these often coexist because of shared risk factors.

Effects Of OSA on Health

Some effects of OSA that could interfere with everyday functioning include:
- Difficulty in concentrating
- Excessive daytime sleepiness
- Irritability, sexual dysfunction
- Nighttime sweating
- Learning and memory difficulties

Tips for Managing Obstructive Sleep Apnea

1. Having a consistent sleep cycle routine, maintaining a healthy weight, avoiding smoking and alcohol consumption, a comfortable bedroom environment, and exercise during the day are some of the lifestyle changes that can help prevent and also manage obstructive sleep apnea.
2. If following lifestyle changes don’t help you manage your sleep apnea, do consult a doctor. This applies to moderate and severe sleep apnea.
3. The doctor may ask you to use an oral device (mouthpiece) designed to keep your throat open and keep your airway open.
4. Positive airway pressure treatment reduces the respiratory events that occur when you sleep, thereby reducing snoring also.
5. In some cases, surgery is also done to manage obstructive sleep apnea.

Summary

1. Obstructive Sleep Apnea (OSA) is characterized by frequent episodes of partial or complete upper airway obstruction during sleep. Snoring is a notable sign of OSA.
2. Variations in multiple genes, each with a small effect, combine to increase the risk of developing the condition.
3. TNFA gene, which encodes a molecule produced by immune cells, is involved in regulating sleep by influencing the adenosine receptor expression. The A allele of SNP rs1800629 is associated with an increased risk of developing OSA compared to the G allele.
4. OSA can lead to difficulties in concentration, learning, memory, excessive daytime sleepiness, and nighttime sweating.
5. A consistent sleep cycle routine, healthy weight, and reducing alcohol consumption are some lifestyle changes to help manage OSA. An oral device and positive airway pressure treatment are also used in some cases under the guidance of a medical professional.

References

https://pubmed.ncbi.nlm.nih.gov/22043116/
https://pubmed.ncbi.nlm.nih.gov/23155414/
https://pubmed.ncbi.nlm.nih.gov/20538960/

What is Excessive daytime sleepiness?

Excessive daytime sleepiness (also known as hypersomnia) refers to the inability to stay awake and alert during the normal waking hours that results in unexpected lapses of sleep or drowsiness. It can even occur after long stretches of sleep.

There are two types of hypersomnia; primary and secondary.
Primary hypersomnia occurs without an underlying medical condition. The only symptom is excessive fatigue.
Secondary hypersomnia, on the other hand, occurs due to a medical condition.

Some symptoms of hypersomnia include:
- Anxiety
- Irritability
- Low energy
- Loss of appetite
- Restlessness

A 2019 study in Nature Communications documented that nearly 10–20% of people deal with excessive sleepiness to some degree.

How Does Genetics Influence the Risk of Excessive Daytime Sleepiness?

Studies have shown that certain genetic variants influence daytime sleepiness, which explains why some individuals need more sleep than others. Twin study results have estimated a 38% genetic variance in daytime sleepiness.

Studies have found an association between excessive daytime sleepiness and certain variations in the HCRTR2, PATJ, AR-OPHN1, KSR2,, and PDE4D genes.

The HCRTR2 gene encodes a protein that belongs to the G-protein coupled receptor, involved in the regulation of appetite, energy balance, neuroendocrine functions, and wake promotion.
Latest research studies suggest that variations in the HCRTR2 gene may influence the sleep-wake process.

Non-genetic Influence on EDS Risk

The most common causes of excessive sleepiness include:
- Low sleep duration
- Poor quality sleep
- Sleep deprivation
- Obstructive sleep apnea
- Medications with sedative properties
- Narcolepsy

Research has also indicated that other health conditions can increase the risk of excessive sleepiness. Some of them include:
- High BMI (Obesity)
- Type 2 diabetes
- Depression

Effects Of Excessive Daytime Sleepiness (EDS) on Health

Studies have shown that EDS is associated with an increased risk of developing coronary heart disease and stroke. However, the risk can be managed by improving the quality of sleep.
People with EDS also have poorer health than comparable adults.
According to a study, EDS is associated with negative effects on cognitive function. In fact, EDS is a common symptom in neurological conditions like Parkinson’s and psychiatric conditions like depression.

Tips for Managing Obstructive Sleep Apnea

1. Having a consistent sleep cycle routine, maintaining a healthy weight, avoiding smoking and alcohol consumption, a comfortable bedroom environment, and exercise during the day are some of the lifestyle changes that can help prevent and also manage obstructive sleep apnea.
2. If lifestyle changes don’t help you manage your sleep apnea, do consult a doctor. This applies to moderate and severe sleep apnea.
3. The doctor may ask you to use an oral device (mouthpiece) designed to keep your throat and airway open.
4. Positive airway pressure treatment reduces the respiratory events that occur when you sleep, thereby reducing snoring also.
5. In some cases, surgery is also done to manage obstructive sleep apnea.

Summary

1. Excessive daytime sleepiness refers to the inability to stay awake and alert during the normal waking hours, resulting in unexpected lapses of sleep or drowsiness.
2. Anxiety, low energy, restlessness, loss of appetite, and irritability are the symptoms of hypersomnia.
3. The HCRTR2 gene encodes a protein involved in the regulation of appetite, energy balance, neuroendocrine functions, and wake promotion. Variations in this gene may influence the sleep-wake process and influence hypersomnia.
4. Sleep deprivation, OSA, poor quality of sleep, low sleep deprivation, certain medications, and narcolepsy are some of the non-genetic factors that are associated with insomnia hypersomnia.
5. Various lifestyle changes can help manage this disease. It can also be treated by treating the underlying cause like sleep apnea.

References:

https://pubmed.ncbi.nlm.nih.gov/31409809/
https://pubmed.ncbi.nlm.nih.gov/27992416/
https://pubmed.ncbi.nlm.nih.gov/29783161/

What is Narcolepsy?

Narcolepsy is a sleep disorder that is characterized by five symptoms:
1. Excessive daytime sleepiness
2. Cataplexy (sudden muscle weakness that occurs without any 'warning')
3. Sleep paralysis (a state of awareness with an inability to speak or move - usually occurs during waking up or falling asleep)
4. Hypnagogic hallucinations (vivid dreamlike experiences),
5. Disturbed nocturnal sleep

It affects approximately 1 in 2000 individuals and usually appears during childhood or early puberty.

There are two major types of narcolepsy:
Type 1 narcolepsy (NT1) : It is characterized by excessive daytime sleepiness as well as cataplexy. People with NT1 have lower levels of a brain hormone called hypocretin.

Type 2 narcolepsy (NT2) : Nt2 is a type of narcolepsy without cataplexy. People with NT2 have normal levels of hypocretin.

How Does Genetics Influence the Risk Of Narcolepsy?

The heritability among monozygotic twins for NT1 was found to be 20-30%.
If a first-degree family member has NT1, your risk for NT1 increases by 10-40 times. This shows that there are some genetic and environmental factors that play an important role in narcolepsy.

There are multiple genes that are associated with NT1, but almost all patients with NT1 carry a specific variant of the human leukocyte antigen (HLA).
HLA system regulates immune functioning in the body.
The currently identified genetic factors do not fully reveal the heritability of narcolepsy.
However, narcolepsy has been associated with a significant reduction in orexin producing neurons in the brain. Orexin is a neurotransmitter that is considered the master regulator of the sleep-wake cycle. A deficiency of orexin-producing neurons can cause narcolepsy.

P2RY11 and Narcolepsy

The P2RY11 gene is a member of the G-protein coupled receptors family, expressed by the immune cells. It plays an essential role in immune functioning and cell death regulation.

Variations in the P2RY11 gene might dysregulate the functioning of certain immune cells like CD8+T-cells and contribute to the development of narcolepsy.

rs2305795 And Narcolepsy

The rs2305795 is a G>A polymorphism located in the P2RY11 gene on chromosome 19.
A study documented that the rs2305795 A allele is associated with a reduced immune response to infectious triggers, thereby contributing to narcolepsy risk.

Non-genetic Influences On Narcolepsy Risk

Some risk factors for narcolepsy include:
- Autoimmune effects
- Upper airway infection
- Sarcoidosis
- Head injury
- Stroke
- Tumor
- Age (10-30 years)

Effects of Narcolepsy on Health

1. People with narcolepsy find it harder to remember things and concentrate on doing an activity.
2. There is a risk of depression and anxiety.
3. Day to day activities like walking can become very dangerous when you fall asleep all of a sudden and lose muscle control.
4. The sudden loss of muscle control can lead to weakness of arms and legs.
5. People with narcolepsy may experience dream-like hallucinations, nightmares, and also paralysis when they sleep or wake up.
6. It affects your sleep cycle and quality of sleep. REM sleep movements tend to occur at any time of the day in people suffering from narcolepsy.

TipsTo Manage Narcolepsy

There is no cure for narcolepsy, but certain lifestyle changes and treatments can help you manage it.
1. Try to stick to a sleep schedule, including short naps for about 20 minutes during the day.
2. Avoid alcohol, nicotine, and caffeine consumption, especially at night, and eat healthily.
3. Include some exercise in your daily routine to make you feel more awake during the day and tired at night.
4. Try to avoid activities that may be dangerous if you fall asleep suddenly, like driving or get enough sleep before you do that activity if necessary.
5. Talk to everyone you work with about your condition. They need to be informed so that they can help you if needed and know how to react.
6. Your doctor may prescribe stimulant medicines to help you stay awake during the day and antidepressants to help with the nightmares and hallucinations.
7. Counseling and support groups can help you relieve your emotions and deal better with the condition.

Summary

1. Narcolepsy is a sleep disorder that usually appears during childhood or early puberty.
2. There are two types of narcolepsy: NT1 and NT2. The symptoms of narcolepsy include disturbed nocturnal sleep, excessive daytime sleepiness, and a few others.
3. Multiple genes are associated with NT1, but almost all patients carry a specific variant of the HLA gene that regulates immune functioning in the body.
4. The P2RY11 gene, expressed in immune cells, plays a role in immune functioning and cell death regulation. The A allele of SNP rs2305795 is associated with a reduced immune response to infectious triggers, contributing to narcolepsy risk.
5. Certain lifestyle changes like following a sleep schedule, taking short naps, exercising, reducing alcohol and nicotine consumption, and avoiding doing activities that may prove dangerous if you fall asleep suddenly can help manage narcolepsy.
6. Certain stimulants and antidepressant medications can be taken under the guidance of a trained medical professional.

References:

https://pubmed.ncbi.nlm.nih.gov/30652006/
https://pubmed.ncbi.nlm.nih.gov/21170044/
https://pubmed.ncbi.nlm.nih.gov/24381371/

Why Does Sleep Efficiency Matter?

Sleep efficiency refers to the percentage of time a person sleeps to the amount of time a person spends in bed. It is calculated by the ratio of the total time spent asleep (TST) in a night compared to the total amount of time spent in bed. An efficient sleep leads to a deeper sleep of better quality with lesser disturbances that may result in good stamina and sufficient rest upon waking, while an inefficient sleep may lead to uneasiness and fatigue.

Sleep Efficiency Rates

Sleep efficiency rates tend to vary from person to person. Normal sleep efficiency is considered to be 80% or greater. For example, if an individual spends 8 hours in bed, at least 6.3 hours or more should be spent sleeping to achieve 80% or greater sleep efficiency. Most healthy and young adults have sleep efficiencies above 90%.

How Does Genetics Influence Sleep Efficiency?

UFL1 Gene and Sleep Efficiency

UFL1 is one of the genes in the ubiquitin pathway - the principal mechanism behind protein breakdown.
This pathway has also been implicated in schizophrenia, a condition in which poor sleep efficiency is a common symptom.
The relevance of this pathway in sleep disturbances was further explored in another study.
The study indicated that the expression of a protein UFM1, a part of UFL1, increased after partial sleep restriction.

rs75842709 and Sleep Efficiency

A GWAS analysis found a significant correlation between a variant (rs75842709) near the UFL1 gene and sleep efficiency.
The T-allele was associated with a 5.7% decreased sleep efficiency.

Non-genetic Influences Of Sleep Efficiency

Some factors that lower sleep efficiency:
- Pain
- Higher fatigue
- Less activity during the day
- Light at night
- Jet lag
- Sleep environment

Tips To Improve Sleep Efficiency

1. Get some exercise during the day and get active.
2. Try to do a calm and relaxing activity, like taking a shower or reading a book before you sleep.
3. Avoid watching television or using your mobiles at least an hour before bedtime.
4. Eliminate distractions before sleeping. Avoid using flashy, blinking lights, having the television on, and using your cell phone.
5. Try to associate your bed with falling asleep and avoid doing other activities like reading or watching television on the bed before you fall asleep. Read at your table or any other convenient spot, and then fall asleep on your bed.
6. If you’re awake in the middle of your sleep time for more than 15-20 mins, try to move around and do some relaxing activity to fall asleep again.
7. Try to restrict your bedtime if most of it is spent laying awake. This can help meet your sleep needs but should be followed under the guidance of a doctor.

Summary

1. Sleep efficiency refers to the percentage of time a person sleeps to the amount of time a person spends in bed. Efficiency rates tend to vary from person to person.
2. The UFL1 gene involved in protein breakdown is implicated in schizophrenia, a condition in which poor sleep efficiency is a common symptom. The T allele of rs75842709 SNP is associated with a 5.7% decrease in sleep efficiency.
3. Pain, sleep environment, jet lag, higher fatigue, less activity during the day are some of the non-genetic influences on sleep efficiency.
4. Being active, doing calm and relaxing activities before sleeping, avoiding television and mobile usage before sleeping, and restricting bedtime to establish a proper sleep schedule can improve sleep efficiency.

Reference

https://pubmed.ncbi.nlm.nih.gov/27126917/

Sleep Latency: How Long Does It Take You to Fall Asleep?

Sleep latency (also known as sleep onset latency) refers to the amount of time it takes for a person to fall asleep. Usually, normal sleep latency is 5-15 minutes. If sleep latency is less than five minutes, it may suggest some level of excessive sleepiness, and if it is greater than 15 minutes, it may be due to sleep initiation issues.
Sleep latency varies from person to person. An ideal sleep latency period lays the foundation for a solid night's sleep. Sleep latency directly affects sleep efficiency, because if a person is able to fall asleep quickly, they are more likely to have an efficient sleep.

How Does Genetics Influence Sleep Latency?

Research studies have demonstrated the association between certain variants in RBFOX3 and DRD2 genes and sleep latency. The RBFOX3 gene plays a key role in neuron-specific alternative splicing (a process that removes the "unwanted" portions from the DNA and connects useful portions to form a functional gene).

RBFOX3 Gene and Sleep Latency

RBFOX3 also influences the release cycle of neurotransmitters, including GABA (gamma-aminobutyric acid) and various monoamines, vital to the human circadian clock.

DRD2 Gene and Sleep Latency

The DRD2 gene encodes a dopamine receptor. Dopamine is a 'happy hormone' that is crucial for signaling pleasure and reward. Dopamine and its receptors also play a part in controlling the sleep-wake cycle. Mainly, dopamine can help keep you awake and alert. The DRD2 gene variations may affect this wake/sleep switch, leading to a tendency for shorter sleep duration and sleep onset latency.

rs17601612 And Sleep Latency

The rs17601612 is a G>C polymorphism located in the DRD2 gene, which might affect the wake/sleep cycle. A study, Cade, Brian E., et al.2016, has shown that the rs17601612 C allele was strongly associated with shorter sleep latency than the G allele.

Non-genetic Influences on Sleep Latency

A variety of other factors influence sleep latency. They include:
- Age
- Gender
- Dietary intake
- Sedentary life
- Consumption of stimulants
- Illness such as depression

Effects of Delayed Sleep Latency on Health?

Prolonged sleep latency may shorten sleep duration and lead to a variety of problems, including depression, loss of productivity, irritability, cognitive impairment, poor academic performance in children, and adolescents. Persistently increased sleep latency is also a key indicator of delayed sleep phase syndrome, insomnia, sleep deprivation, and narcolepsy.

Tips To Improve Sleep Efficiency

1. Get some exercise during the day and be active.
2. Try to do a calm and relaxing activity, like taking a shower or reading a book before you sleep.
3. Avoid watching television or using your mobile at least an hour before bedtime.
4. Try to associate your bed with falling asleep and avoid doing other activities like reading or watching television on the bed before you fall asleep. Read at your table or any other convenient spot, and then fall asleep on your bed.
5. If you’re awake in the middle of your sleep time for more than 15-20 mins, try to move around and do some relaxing activity to fall asleep again.
6. Try to restrict your bedtime if most of it is spent laying awake. This can help meet your sleep needs but should be followed under the guidance of a doctor.

Summary

1. Sleep latency is the amount of time it takes for a person to fall asleep. It is usually in the range of 5-15 minutes. It varies from person to person.
2. Certain variants of RBFOX3 and DRD2 genes have an association with sleep latency. The DRD2 gene is a dopamine ('happy hormone') receptor. The C allele of an SNP rs17601612 located on this gene is associated with shorter sleep latency compared to the G allele.
3. Poor sleep latency shortens sleep duration and can lead to a variety of health issues.
4. Being active, doing calm and relaxing activities before sleeping, avoiding television and mobile usage before sleeping, and restricting bedtime to establish a proper sleep schedule can improve sleep efficiency.

References

https://pubmed.ncbi.nlm.nih.gov/27142678/
https://pubmed.ncbi.nlm.nih.gov/26464489/

What is Restless Leg Syndrome?

Restless Leg Syndrome (also known as Willis-Ekbom Disease) is a neurologic and sleep-related movement disorder characterized by an irresistible urge to move in the legs, which typically occurs or worsens at rest. Affected people may experience abnormal, uncomfortable sensations ( paresthesia or dysesthesias ) that are often linked to cramping, crawling, burning, aching, itching, or prickling deep within the affected areas.

This condition has a 10% prevalence rate, with an increase in incidences as age advances. Since the symptoms occur during sleep and relaxation, it could disrupt a good night's sleep.
Restless leg syndrome causes an uncomfortable urge to move, which can be relieved by walking or moving the extremities. This interferes with sleep maintenance

How Does Genetics Influence the Risk of Restless Leg Syndrome (RLS)?

Restless leg syndrome shows an anticipation inheritance - with each generation, the age of onset of this condition advances.

A GWAS meta-analysis study of restless leg syndrome (RLS) in European ancestry has demonstrated the significant association of RLS with MEIS1, BTBD9, PTPRD, and other genes.

BTBD9 and RLS

BTBD9 gene variants have been associated with RLS, with two experimental models providing better insights. The loss of this gene was associated with increased waking from sleep, motor activity, higher motor restlessness, and altered serum iron levels.

MEIS1 and RLS

The MEIS1 gene is a transcription factor that plays a key role in hematopoiesis, endothelial cell development, and vascular patterning.
It also plays a role in neurodevelopment.
Research studies have shown that the reduced MEIS1 levels and function of the gene may contribute to the pathogenesis of sleep-related disorders.

rs113851554 And RLS
The rs113851554 is a G>T polymorphism located in the MEIS1 gene, which is found to be correlated with multiple sleep disorders.

A GWAS meta-analysis study of RLS in European ancestry has demonstrated that the rs113851554 T allele is associated with an increased risk of developing RLS susceptibility.

Non-genetic Influences on RLS Risk

Some nutritional deficiencies have been implicated in RLS. They include:
- Vitamin D deficiency
- Iron deficiency

Some medical conditions associated with RLS are:
- Depression
- Diabetes
- Fibromyalgia
- Rheumatoid arthritis
- Hypothyroidism

Effects of Restless Legs Syndrome on Health

1. Many people with restless leg syndrome find it hard to fall asleep and have a good quality of sleep at night.
2. There is a risk of depression and other health problems.
3. Napping during the day becomes difficult.
4. It interferes with your day-to-day activities, concentration, and productivity.
5. It causes daytime sleepiness and fatigue.
6. About 80% of people with RLS have a condition called periodic limb movement of sleep which causes the legs to twitch or jerk during sleep. This leads to sleep deprivation.

Tips for Managing Restless Leg Syndrome (RLS)

Iron Supplements : Iron deficiency is one of the leading causes of RLS. If you test positive for iron deficiency, you may get started on iron supplements after consulting a qualified healthcare professional.
Baths and massages : Warm showers and massages can help relax muscles and prevent unnecessary leg movements.
Exercise : Restless Legs Syndrome foundation recommends moderate exercising to help manage RLS.
Avoid caffeine : High caffeine intake can worsen RLS. Either limit or avoid caffeine intake.

Summary

1. Restless Leg Syndrome is a neurologic and sleep-related movement disorder characterized by an irresistible urge to move in the legs, which typically occurs or worsens at rest. Symptoms occur during sleep, and relaxation disrupts a good night's sleep.
2. A significant association between MEIS1, BTBD9, PTPRD genes, and RLS has been established. The T allele of the rs113851554 SNP found in the MEIS1 gene is associated with an increased risk of developing RLS.
3. Vitamin D deficiency, iron deficiency, depression, and diabetes are associated with RLS.
   RLS leads to a risk of depression, other health problems, problems with napping, and sleep deprivation. It interferes with your day-to-day activities, concentration, and productivity.
4. Iron supplements, baths and massage, exercise, and caffeine can help manage restless leg syndrome.

Reference

https://pubmed.ncbi.nlm.nih.gov/29029846/

Introduction: What is Sleep Bruxism?

Sleep Bruxism (also known as Teeth Grinding) is defined as repetitive jaw muscle activity during sleep. It is characterized by an unconscious act of grinding or clenching one's teeth tightly together. Over time, it could lead to damage of teeth, oral health conditions, facial muscle pain, sleep disturbances, difficulty while speaking or eating.

Sleep Bruxism is more common in children, adolescents, and young adults than middle-aged and older adults.

The prevalence of sleep bruxism is estimated to be around 15% in adolescents, around 8% of middle-aged adults, and only 3% in older adults.

According to statistical studies 6-50% of children experience nighttime teeth grinding.

How Does Genetics Influence Sleep Bruxism Risk?

Multiple studies have demonstrated that there may be a degree of inherited susceptibility to develop sleep bruxism. According to a study, around 21-50% of affected individuals have an immediate family member who had sleep bruxism during childhood.

Few studies have shown the significant associations of certain variants in neurotransmitters like dopamine, serotonin, and others ( DRD3, HTR2A, COMT, MMP9, and others) with sleep bruxism.

DRD3 Gene and Sleep Bruxism

The DRD3 gene encodes the D3 subtype of the dopamine receptor, which is localized to the regions of the brain involved in cognitive, emotional, and endocrine functions.
Variations in DRD3 are implicated in the physiopathology of diseases affecting those functions.

rs6280 and and Sleep Bruxism

The rs6280 is a T>C polymorphism located in the DRD3 gene, where the C allele may increase dopamine affinity and efficacy. Studies have shown that the Gly variant (C) is significantly associated with increased susceptibility to sleep bruxism.

Non-genetic Influences on Sleep Bruxism Risk

Sleep bruxism may be accelerated by lifestyle factors as well. Some of them include:
- Stress
- Alcohol consumption
- Anxiety
- Cigarette smoking
- Upper airway resistance
- Caffeine consumption

Effects of Bruxism on Health

1. There is significant damage to the teeth. The teeth can become painful, shaky, and get eroded. Any implants have a risk of getting damaged.
2. It leads to problems with the temporomandibular joint (TMJ) which connects the lower jaw to the skull. This causes locking of the jaw, difficulty with chewing, popping, or clicking noises, and chronic jaw pain.
3. The sound from clenching and grinding your teeth can make it harder for the person you share your bed with to fall asleep.

Tips for Managing Bruxism

Mouth guards - Mouth guards help keep the teeth separated and hence prevent grinding.
Stress management - Stress is one of the major contributors to teeth grinding. So finding ways to alleviate stress can help prevent teeth grinding.
Avoid alcohol and caffeine - Teeth grinding tends to intensify upon alcohol and caffeine consumption.
Avoid chewing on pens and pencils - This practice gets your jaws used to grinding movement and may increase your tendency to grind your teeth.

Summary

1. Sleep Bruxism is defined as repetitive jaw muscle activity during sleep. Over time, it could damage teeth, oral health conditions, facial muscle pain, sleep disturbances, and difficulty while speaking or eating.
2. It is more common in children, adolescents, and young adults than in middle-aged and older adults.
3. Few studies have shown the significant associations of certain variants in neurotransmitters like dopamine, serotonin, and others DRD3, HTR2A, COMT, MMP9, and others with sleep bruxism.
   1. The C allele of rs6280 SNP found in the DRD3 gene, a dopamine receptor, is associated with increased susceptibility to sleep bruxism.
4. As sleep bruxism causes severe damage to the teeth over time and leads to problems with the temporomandibular joint, it needs to be managed. Using mouth guards, avoiding alcohol and caffeine, managing stress, and not chewing on pens and pencils can help.

References

https://pubmed.ncbi.nlm.nih.gov/32471213/
https://pubmed.ncbi.nlm.nih.gov/27611726/
https://pubmed.ncbi.nlm.nih.gov/28451935/
https://pubmed.ncbi.nlm.nih.gov/30092895/
https://pubmed.ncbi.nlm.nih.gov/25628080/