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Sleep is the best way to relax and rejuvenate your body. It curbs all physical and mental stressors and reduces the risk of various health conditions, including cardiovascular complications. Researchers have found an "ideal time" to fall asleep that is best for your heart health. According to this study by the British Academics, going to bed in the "golden hour" can reduce your risk of dying from a heart attack or stroke.

Introduction: Sleep and Heart Health

While there are many reasons to prioritize a good night's sleep, protecting your heart tops the list!

From sleep quality to sleep duration, many parameters of your sleep affect your heart health.

According to the American Heart Association, poor sleep is associated with increased calcium build-up in the arteries. This can result in plaque formation, increasing your risk for heart attacks.

In fact, just one hour more sleep each night is associated with a 33% decreased risk of calcium build-up in arteries.

Sleep and atherosclerosis

Image: Calcium plaque formation in the heart's artery

Not getting enough sleep (7-9 hours per night) can induce hormonal changes - especially those that regulate hunger. It increases the levels of the hunger hormone ghrelin and decreases the levels of the satiety hormone leptin. This can lead to overeating and obesity, which is again a risk factor for heart diseases.

Excessive sleeping (>9 hours) can also increase the risk of developing a range of heart conditions.

Check Out: Gene Sleep Report - Your Guide to a Good Night’s Sleep

Heart conditions associated with bad sleep include:

Sleep Onset Timing And Cardiovascular Disease Incidence: The Study

Study Participants and Data

This study from the United Kingdom used an accelerometer device to examine the sleep onset and waking time in the study participants. 

Accelerometers are devices that monitor sleep by sensing movements.

103,679 participants (in the UK Biobank recruited between 2006 and 2010) were made to wear the accelerometer for 7 days, and accelerometer data were studied.

After some filtering, a total of 15,653 participants were excluded from the study for reasons like:

The sleep-onset time (SOT) of the remaining 88,026 patients was recorded, and the relationship between SOT and heart diseases was investigated.

The study was done over a period of 6 years and reported that 3.6% of subjects later developed heart disease.

Study Results

There was a U-shaped relationship between increased risk of heart disease and SOT - this suggests that there is an optimal SOT for reducing heart disease risk.

Sleep onset time and heart disease risk

Image: Relationship between sleep-onset time and heart disease risk

Any deviations from this range - earlier SOT or later SOT can increase heart disease risk.

The findings

Sleep and heart disease risk

Image: Study Results

Lower Risk of Heart Diseases For SOT from 10 PM to 11 PM - Why?

The findings of this study do not show a causal relationship between SOT and heart disease risk - it just implies a correlation.

However, there is a mountain of evidence that sleep is related to other risk factors of heart disease, like diabetes, obesity, and hypertension.

Study Limitations

How To Sleep At The Right Time

Creating a consistent sleep pattern: Waking up and going to bed at the same time every day (even during weekends and holidays) can help your sleep cycle function well.

Planning your naps: Midday naps, if not done correctly, can interfere with a good night's sleep. A short nap during the afternoon can help you get through your midday lull and not disrupt the night's sleep!

Getting enough sunlight: Natural light, especially during the day, can help your body's clock to function well, thereby promoting good quality sleep.

Improving your bedtime routine: Instead of looking at devices like mobile phones and laptops that emit blue light, listening to music, reading, or taking a relaxing warm bath before bed can help with the quick onset of sleep.

Having an early dinner: The CDC recommends not eating or drinking anything within a few hours of bedtime to give your body enough time to wind down. 



  1. Good quality sleep is very important for your heart health. Sleeping for less than 7 hours or more than 9 hours can increase your risk for various heart diseases.
  2. A recent study conducted in the UK found that sleep onset time before 10 PM and after 11 PM was associated with an increased risk of heart disease.
  3. The association between sleep onset time and heart disease risk was more profound in women.
  4. Creating a consistent sleep pattern, improving your sleep routine, and getting enough sunlight can help you fall asleep at the right time and improve your sleep quality.



Light therapy is one of the effective treatments used for seasonal affective disorder (SAD), a type of depression related to changes in seasons.

A group of scientists from the University of Friborg used mouse models to investigate how light therapy affects mood. 

Light therapy triggered the PER1 gene (circadian clock gene) in mice and showed an antidepressant effect.

What Is Seasonal Affective Disorder (SAD)?

SAD is a kind of depression that is triggered by a change in seasons. It happens around the same time every year and typically gets worse in the winter. Symptoms can last for approximately 40% of the year.

SAD is known to affect 11 million people in the U.S. every year.

Some symptoms of SAD are:

Light Therapy For Depression

Light therapy is also called phototherapy. It is a treatment in which a person is exposed to an artificial light source of a specific wavelength. It is used to treat SAD, other types of depression, as well as sleep disorders. 

Light therapy or phototherapy is a treatment in which a person is exposed to an artificial light source of a specific wavelength.

Light therapy is used to compensate for the lack of exposure to sunlight. The light seems to trigger the release of the feel-good hormone serotonin, which helps improve mood. 

Research suggests that light therapy in the night activates the CLOCK gene PER1, which appears to improve symptoms of depression. 

What Is The PER1 Gene?

PER1 gene or Period 1 gene or circadian clock gene responsible for sleep-wake cycles and mood swings. The PER1 gene is found in the suprachiasmatic nucleus (SCN). The SCN is located in the hypothalamus of the brain and is the central pacemaker of the circadian timing system.

The PER1 gene is light-sensitive. Upon exposure to light, it switches the body to awake and alert mode with elevated energy levels.

Resetting Circadian Rhythm Could Help Treat SAD

Researchers exposed mice to a pulse of light at different points during the night and then tested them for depressive behavior. They found that light exposure at the end of the dark periods (2 hours before daytime) had an antidepressant effect on the mice. 

The pulse of light, activated the PER1 gene in a region of the brain called lateral habenula, which plays a role in the mood. It also resulted in the resetting of the circadian rhythm. This caused a spike in energy levels, which in turn, brought about antidepressant effects. 

Light therapy for depression

Image: PER1 gene expression before (left) and after (right) 15-minute light therapy

Light therapy at other times did not seem to have any effect. When the PER1 gene was deleted, the mice did not experience the antidepressant effect of light therapy.

Mice responding to light therapy during the early hours before daytime is similar to findings in humans - patients with SAD responded better to light therapy in the early morning than in the evening.

However, since mice are nocturnal creatures, scientists caution against making too many direct comparisons to humans. 



  1. Light therapy is a common treatment used for seasonal affective disorder (SAD).
  2. Researchers found light therapy in mice showed an antidepressant effect by triggering the PER1 gene (circadian clock gene) during the dark time.
  3. When activated by light, the PER1 gene switches the body to alert and awake mode, thereby boosting energy levels and alleviating depression symptoms.
  4. Light therapy appears to work better in the early morning than in the evening to awaken the moods.


Xcode Life’s Gene Health report profiles genes that are shown to influence the risk of certain health conditions. This report is aimed at helping you understand your risk for diseases based on your genes so that you can modify your lifestyle accordingly. 

Genetic Health Testing

Certain diseases, like diabetes, run in families. This means, if a person in your family has diabetes, you may be at an increased risk for it as well. A family history of certain health conditions can predispose you to it. For many health conditions, however, you can break the chain by taking a few measures. 

When you learn about your predispositions, you have an opportunity to take preventive action by changing your lifestyle. Research shows that lifestyle intervention reduces the risk of health conditions like heart diseases and diabetes considerably.

According to a New England Journal of Medicine study, even with a high genetic risk for heart disease, people can significantly lower their risk by leading a healthy lifestyle.

Some interesting facts about genes and health

Gene Health Report

The Gene Health Report aims to help you understand your body better, align your lifestyle to your genetics, reduce your risk for diseases, and improve your chances for a disease-free life.

The Outcome Table in the report indicates your outcome for each trait.

Xcode Life Gene Health report

Based on your genetic makeup, your risk for over 45 health conditions is indicated in the report. Each health condition comes with the following information 

Xcode Life Gene Health report trait section

What are the traits covered in this report?

The report analyzes your genetic risk for more than 45 health conditions, including obesity, type 2 diabetes, heart disease, cardiomyopathy, migraine, and glaucoma. For a comprehensive list of the traits covered, click here. 

For a sample health report/ preview of the report, click here.


Glaucoma, prevalent in more than three million Americans, is the leading cause of blindness in the United States. Recent research reports that consuming large amounts of caffeine daily may more than triple the risk of glaucoma - for those with a genetic risk for high eye pressure. The study suggests individuals with a family history of glaucoma must cut down on caffeine intake to reduce the risk of glaucoma. However, further research is required to understand these gene-diet interactions affecting our glaucoma risk. 

What Is Glaucoma?

Glaucoma is an eye disorder damaging to the optic nerve.  It results from increased eye pressure due to fluid build-up in the eye.

Glaucoma is of two major types:

It is the most common type of glaucoma. It occurs gradually when the eye does not drain fluid, resulting in eye pressure build-up damaging the optic nerve. This type of glaucoma causes no vision changes initially and is painless.

It occurs when the iris is very close to the drainage angle in the eye and ends up blocking it. When the drainage angle is completely blocked, eye pressure rises quickly. It is an acute condition and requires immediate medical attention.

Types of glaucoma

The less common kinds of glaucoma include:

Is Glaucoma Hereditary?

Studies have identified various genetic factors that increase the risk of glaucoma.

Changes in the following genes account for 10% of global cases of open-angle glaucoma:

Genes that influence the risk of angle-closure glaucoma are:

But, how these genes contribute to glaucoma is not clear.

In the US, only 15% of children with congenital glaucoma have a mutation in CYP1B1

Genes influencing other types of glaucoma include FOXC1, FOXE3, PITX2, PITX3, PAX6, LMX1B, and MAF.

Xcode Life's Gene Health Report analyzes 35 gene markers for glaucoma. You can learn about your genetic risk for glaucoma here.

High Caffeine Intake Linked To Increased Risk Of Glaucoma

A genetic study led by researchers at the Mount Sinai School of Medicine aimed to understand the impact of caffeine intake on glaucoma and eye pressure.

The study was conducted with data of 502,506 individuals from UK-based Biobank. Participants aged between 39 and 73 during the years 2006-2010 provided their health records and DNA samples to generate genetic data.

The study also used data from dietary questionnaires focusing on caffeine intake and vision, including specifics on family history of glaucoma. In addition, the study measured the eye pressure of the participants.

The researchers analyzed the impact of multiple variables to estimate the association between glaucoma and eye pressure. They also used a genetic risk score that combined the effects of 111 genetic markers associated with eye pressure to examine the between genes and caffeine intake. 

Findings of the study suggested that regular coffee drinking is weakly associated with decreased eye pressure. Results also depict a null association between caffeine intake and glaucoma. 

However, among individuals with an already existing genetic risk of increased eye pressure, greater caffeine intake was linked with higher eye pressure and increased glaucoma risk. 

The study calls for more research to be done in order to identify the gene-diet interactions and provide nutritional recommendations for caffeine intake based on glaucoma risk.

Recommendations For Safe Caffeine Consumption and Glaucoma Prevention

The FDA has recommended that healthy adults can consume 400 milligrams of caffeine a day (4-5 cups of coffee) without experiencing dangerous, negative effects.

If you consume caffeine in amounts higher than your tolerance level, you may experience symptoms like:

More reading: How Genes Influence Caffeine Tolerance?

Opt for alternatives with lower caffeine content like tea or cocoa. Studies report significantly lower levels of caffeine in tea when compared to coffee. Other healthy sources of caffeine include green tea, matcha, Guarana berries.

Include foods that support eye health in your diet every day. Sunflower seeds, raw bell peppers, salmon, eggs, sweet potatoes, dark green leafy vegetables, and carrots contain nutrients that are good for your eyes.

Regular comprehensive eye exams can help detect glaucoma in its early stages before significant damage occurs.

Regular exercising may help regulate eye pressure and thereby lower your risk for glaucoma.



Hydroxychloroquine: An Introduction

Hydroxychloroquine is a derivative of chloroquine that has both anti-inflammatory and antimalarial activities. It is also used as an antirheumatic agent (used to treat joint pain) in systemic lupus erythematosus and rheumatoid arthritis.

The exact mechanism of hydroxychloroquine action is unknown. It has been documented that its activity hampers the parasite’s ability to break down hemoglobin, preventing its normal growth and replication.

Studies have also shown that it inhibits the stimulation of toll-like receptor (TLR) 9 family that induces inflammatory responses by activating the innate immune system.

Several in vitro studies have confirmed the effectiveness of hydroxychloroquine on severe acute respiratory syndrome (SARS) virus. Multiple clinical trials are currently being conducted to identify the effect of hydroxychloroquine on COVID-19.

Genetics and Hydroxychloroquine Response

The IL-10 Gene and Hydroxychloroquine Response

The IL-10 gene contains instructions for the production of a cytokine protein, which plays an anti-inflammatory and immunomodulatory role in lymphocytes. A study in mice documented that the cytokine functions as an essential immunoregulatory in the intestinal tract. Genetic variations in this gene may alter the production of IL-10 and influence the susceptibility to autoimmune diseases.

rs1800896 and Hydroxychloroquine Response
The rs1800896 is a single nucleotide polymorphism or an SNP in the IL-10 gene associated with the regulation of IL­10 production.

Studies have shown that rs1800896 is associated with susceptibility to asthma, inflammatory bowel disease, and other chronic infections.

In a case-control study on patients with SLE (Systemic Lupus Erythematosus), people with TT genotype responded better to hydroxychloroquine.


  1. Hydroxychloroquine is a drug used to treat acute attacks of malaria, systemic lupus erythematosus (a chronic inflammatory condition of the body), and rheumatoid arthritis.
  2. Hydroxychloroquine works by killing the organisms that cause malaria; however, the exact mechanism of action is unknown.
  3. Several studies have confirmed the effectiveness of hydroxychloroquine on severe acute respiratory syndrome (SARS) virus.
  4. Studies have shown that a person's genetic makeup can influence the response to hydroxychloroquine.
  5. IL-10 gene contains the production of a type of cytokine protein with anti-inflammatory effects.
  6. People with certain variants of this gene gave a better response to hydroxychloroquine than others.

Drug Response And COVID-19

Various existing drugs are being explored in clinical trials for their potential against COVID-19, including Hydroxychloroquine, Lopinavir/ Ritonavir, and VPM1002 (recombinant BCG vaccine).
So far, a newly developed antiviral called Remdesivir is the only drug approved worldwide to treat COVID-19 patients.
Certain genetic variations can affect the metabolism, efficacy, and side effects of drugs. Identifying such variants will help healthcare professionals prescribe the right medication to achieve the best possible beneficial outcomes while avoiding adverse effects.

Response to BCG Vaccine

The BCG (Bacille Calmette-Guerin) is a vaccine that uses a live attenuated strain derived from an isolate of Mycobacterium Bovis, which has been used worldwide against tuberculosis. It is known to provide only partial and inconsistent immunity. The discrepancy in immunity levels between individuals may be due to different BCG vaccine strains, prior exposure to environmental mycobacteria, and host genetics.

It is considered a biologic response modifier, a type of immunotherapy that, when administered, increases immunity to build up the body’s resistance against the disease.

A recent study published in The Journal Of Clinical Investigation analyzed the blood of 6,000 healthcare workers in the Cedars-Sinai Health System for evidence of antibodies against SARS-CoV-2 with their medical history. They documented that workers who had received BCG vaccinations in the past (nearly 30% of of the study population) were significantly less likely to test positive for SARS-CoV-2 antibodies in their blood or to report having had infections with coronavirus or coronavirus-associated symptoms over the prior six months than those who had not received BCG. The authors speculated that the BCG-vaccinated individuals might have been less sick and produced fewer antibodies or mounted a more efficient cellular immune response against the virus.

Genetics and BCG Vaccine

Studies have shown the correlation of certain genetic variants in innate immunity genes and BCG-induced immune responses after vaccination.

The TLR1 and Response to BCG Vaccine

The TLR1 gene encodes a protein that belongs to the Toll-like receptor (TLR) family. It plays an essential role in pathogen recognition and activation of innate immunity. They recognize small molecular motifs (pathogen-associated molecular patterns) expressed on infectious agents and mediate the production of cytokines necessary for the development of effective immunity.
Studies have documented that genetic variants in the TLR pathway that regulate cellular function are associated with susceptibility to some infections, including TB.

rs3923647 and BCG Vaccine Response
The rs3923647 is an SNP in the TLR1 gene. The T allele has been associated with a better immune response upon BCG vaccine administration.


  1. BCG, or bacilli Calmette-Guerin, is a vaccine for tuberculosis (TB) disease. It is used in countries with a high prevalence of TB to prevent childhood tuberculous meningitis.
  2. BCG has been noted to reduce the incidence of respiratory tract infections in children and adults and have antiviral effects
  3. Based on this, research has proposed that BCG vaccination may induce (partial) protection against the susceptibility to and/or severity of SARS-CoV-2 infection.
  4. Studies have shown that a person's genetic makeup can influence the immune response induced by the BCG vaccine.
  5. People carrying certain variants of the TLR1 or Toll-like receptor 1 gene have better immune responses upon BCG vaccination compared to others.

Dexamethasone: An Introduction

Dexamethasone is a corticosteroid medication used for rheumatic disease, skin infections, hypersensitivity reactions, eye infections, ulcerative colitis, and chronic obstructive pulmonary disorder. Dexamethasone is a glucocorticoid. Glucocorticoids act as an anti-inflammatory drug.

The National Health Service in the UK and the National Institutes of Health (NIH) in the US recommend dexamethasone for patients with COVID-19 who need either mechanical ventilation or supplemental oxygen (without ventilation).

In a clinical trial conducted in the UK, treatment with dexamethasone was shown to reduce mortality rates by a third among COVID-19 patients on ventilators.

Genetics and Dexamethasone Response

The F2RL1 and Dexamethasone Response

The F2RL1 (also known as protease-activated receptor 2) gene contains instructions for the production of a receptor that belongs to the G-protein coupled receptor 1 family of proteins. When activated, they stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. It is also essential for the inflammatory response, as well as innate and adaptive immunity.

rs2243057 and Dexamethasone response
The rs2243057 is a single nucleotide polymorphism or an SNP in the F2RL1 gene. According to a study, dexamethasone-treated patients with A allele carriers were associated with adverse pleiotropic effects, including osteonecrosis and thrombosis as compared to G allele carriers.


  1. Dexamethasone belongs to a class of drugs known as corticosteroids, used to treat conditions such as arthritis, allergies, immune system disorders, and certain types of cancer.
  2. Dexamethasone has anti-inflammatory and immunosuppressant effects.
  3. Clinical trials reveal that treatment with dexamethasone reduces mortality rates by a third among COVID-19 patients on ventilators.
  4. Studies have shown that a person's genetic makeup can influence the response to dexamethasone.
  5. The F2RL1 gene, also known as protease-activated receptor 2 regulates the inflammatory response, as well as innate and adaptive immunity.
  6. People with certain variants of this gene are at an increased risk for bone death ad thrombosis when administered this drug.

Coronavirus disease 2019 (COVID-19) is a highly contagious, potentially fatal respiratory illness caused by a coronavirus (SARS-CoV). It was first identified in Wuhan, China, in December 2019, and later it rapidly spread across the world. On March 11, 2020, the World Health Organization (WHO) declared COVID-19 as a pandemic disease.

How is COVID-19 Transmitted?

COVID-19 is likely to transmit through:
1. Respiratory droplets when an infected person coughs or sneezes
2. By touching surfaces contaminated by the virus and then touching the eyes, nose, or mouth.
3. From close contact with an infected person.

Signs and Symptoms

The symptoms of COVID-19 can vary in severity - from very mild to severe illness.
In about 80% of affected people, it causes only mild symptoms.
Some common symptoms include:
1. Shortness of breath or breathing difficulties
2. Fever or chills
3. Cough
4. Fatigue
5. Muscle or body aches
6. Headaches
7. Sore throat
8. Loss of taste or smell
9. Congestion or runny nose
10. Nausea or vomiting

These symptoms may appear between two and fourteen days after exposure to the virus. Children have similar but usually milder symptoms than adults. Older adults and people who have severe underlying medical conditions like heart or lung disease or diabetes are at higher risk of more serious complications from COVID-19.

According to the Chinese Center for Disease Control (CCDC), COVID-19 death cases were already suffering from 10.5% cardiovascular disease, 7.3% for diabetes, 6.3% for chronic respiratory disease, 6.0% for hypertension, and 5.6% for cancer.

Role of Genetics in COVID-19

Genes can determine an individual’s susceptibility to infectious diseases such as COVID-19. They also influence the chances of developing complications from these infections.
Some individuals who get infected remain asymptomatic. Some may develop mild symptoms, while others experience severe symptoms that require hospitalization. These inter-individual differences might be influenced by both genetic and non-genetic factors (environmental/lifestyle).

Research studies have documented that the SARS-CoV-2 virus enters the body by interacting with the ACE2 protein present on the outer surface of certain cells. Certain variants of the ACE2 gene may prevent the SARS-CoV-2 virus from entering cells, thus decreasing a person’s vulnerability to the virus. Variants in LZTFL1, ABO, ACE2, HLA, DPP9, OAS3, IFNAR2, TYK2, and other genes have also been correlated with COVID-19 severity.

A recent genome-wide association study of COVID-19 has shown a significant association of COVID-19 severity with a multigene locus at 3p21.31 and the ABO blood group locus at 9q34.2.

The LZTFL1 Gene

The LZTFL1 gene contains instructions to produce a protein that is widely expressed in the cytoplasm (the fluid that fills the cells) and cilia (hair-like projection found on the surface of the cells). It is involved in protein trafficking (transport) to the ciliary membrane. It functions as a tumor suppressor by interacting with E-cadherin and the actin cytoskeleton, thereby regulating the transition of epithelial cells to mesenchymal cells [ECM].

rs11385942 and COVID-19 Severity
The rs11385942 is an indel (insertion-deletion) variation located in the intronic region of the LZTFL1 gene. Studies have shown that the frequency of minor risk allele (A) was higher among patients receiving mechanical ventilation than those receiving supplemental oxygen only. This finding indicates that this risk allele confers a predisposition to the most severe forms of COVID-19.

The ABO Gene

The ABO gene contains instructions to produce an enzyme called glycosyltransferase that transfers specific sugar residues to H substance and is responsible for the formation of antigens in blood group A and B. Certain variants in the ABO gene are associated with an increased risk for certain cancers and cardio-cerebrovascular disease.

Furthermore, recent studies have documented that blood groups may play a key role in determining the susceptibility and severity of COVID-19. According to a study, people with A blood group are associated with an increased risk of acquiring COVID-19, whereas people with O blood group are associated with a lower risk.

rs657152 and COVID-19 Severity
The rs657152 is a C>A polymorphism in the ABO gene, which may influence several biological molecules, including LDL cholesterol, liver-derived alkaline phosphatase, and interleukin-6, thus contributing to the occurrence and development of the disease.

Based on a GWAS that studied COVID-19 severity, the rs657152 risk allele (A) was significantly associated with a higher risk of a severe COVID infection.

rs657152 and COVID-19 Severity
The rs657152 is a C>A polymorphism located in the intronic region of the ABO gene, which may influence several biological molecules, including LDL cholesterol, liver-derived alkaline phosphatase, and interleukin-6, thus contributing to the occurrence and development of the disease.

Based on a GWAS that studied COVID-19 severity, the rs657152 risk allele (A) was significantly associated with a higher risk of a severe COVID infection.


  1. Coronavirus disease 2019 (COVID-19) is defined as an illness caused by a novel coronavirus called severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
  2. COVID-19 can be transmitted through respiratory droplets, touching contaminated surfaces and touching your mouth, and from close contact with the affected person.
  3. Some signs and symptoms of COVID-19 are cough, fatigue, fever, shortness of breath, and loss of smell and taste.
  4. A person's genetic makeup can influence, to an extent, influences the risk of catching COVID-19, as well as the severity of the disease.
  5. The virus enters the body by interacting with the ACE2 protein produced by the ACE2 gene.
  6. In some individuals, the ACE2 gene produces a higher number of ACE2 proteins and increases both the risk and severity of COVID-19.
  7. Other genes like ABO, LZTFL1, and HLA have also been correlated with COVID-19 severity.

Gut Microbium: An Introduction

The human body’s largest microorganism population resides in the intestine and is collectively called the gut microbiota/microbiome. Every individual’s microbiome is unique and is influenced by genetic, environmental, or lifestyle factors.

The gut microbiome contains a complex community of microbes that live within the gastrointestinal (GI) tract, and many of these microbes are found to be beneficial to health. Some of them, however, can be harmful and promote infections and diseases. It plays an essential role in human health and influences the development of chronic diseases ranging from metabolic disease to colorectal cancer. There is extensive research investigating the biological functions of the gut microbiota in influencing lung disorders that include asthma, chronic obstructive pulmonary disease, chronic bronchitis, lung cancer, pleural effusion, and viral infection. It is also recognized that viral infections in the respiratory tract cause a disturbance in the gut microbiome.

Importance of Bifidobacterium

Some Bifidobacterium strains are considered essential probiotics and are used in the food industry. Different strains of bifidobacteria may exert a range of beneficial health effects, including the regulation of intestinal microbial homeostasis, inhibition of pathogens and harmful bacteria that colonize in the gut mucosa, and regulation of immune responses. It also improves the gut mucosal barrier and lowers levels of endotoxin in the intestine.

Genetics and Bifidobacterium Growth

The MCM6 Gene and Bifidobacterium Growth

The MCM6 gene contains instructions for the production of the protein minichromosome maintenance complex component (MCM). They are essential for the initiation of eukaryotic genome replication. It contains two of the regulatory regions for the LCT gene. This gene produces the lactase enzymes that are required for the digestion of lactose in milk.

Variants in these genes are often associated with lactose intolerance in adult life. The variants result in a decreased ability of the epithelial cells in the small intestine to digest lactose due to the decline in the lactase enzyme.

Research studies have shown the association between _LCT/MCM6_ variants and the abundance of bifidobacterium in the gastrointestinal tract.

rs4988235 and Tendency of Bifidobacterium growth
The rs4988235 is a single nucleotide polymorphism or an SNP in the MCM6 gene. Individuals carrying the homozygous CC variation have been found to be lactose intolerant/ lactose non-persistent, compared to those with the TT or TC variant, which have been correlated with lactase persistence.

Multiple studies have found that rs4988235 has been associated with Bifidobacterium abundance in the gut. As bifidobacterium assimilates lactose as a preferred carbon source for growth, it is reasonable that subjects with the CC genotype have a higher Bifidobacterium abundance in their gut.

The rs4988235 SNP is mainly documented as an essential locus related to lactase activity in the European population.


  1. Gut microbiota is the microorganisms, including bacteria, archaea, and fungi, in the digestive tracts of humans and other animals, including insects.
  2. The microbiome makeup of each individual is influenced by various factors like genetics, environment, and lifestyle.
  3. Gut microbiota plays an essential role in human health and influences the risk of various chronic diseases.
  4. Viral infections in the respiratory tract cause a disturbance in the gut microbiome.
  5. MCM6 and LCT are two genes that have been studied to influence the abundance of bifidobacterium in the gastrointestinal tract.
  6. People with certain variants in these genes have more bifidobacterium and hence, increases protection against various lung disorders.
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