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Researchers have identified several genes associated with multiple sclerosis.
In the sample report below, we've attempted to analyze some important genes that increase the risk of multiple sclerosis.
You can identify your genetic risk of multiple sclerosis by using your 23andMe DNA data and placing an order for the Gene Health Report.
Multiple Sclerosis (MS) is an autoimmune condition where the immune system attacks the myelin sheath of the nerve cells in the Central Nervous System (CNS).
Myelin sheath is the outer covering of the nerve cells, allowing electrical impulses to transmit between the nerve cells.
When the myelin sheath gets damaged, the nerve cells in the CNS cannot pass on information.
MS can cause the following symptoms.
The signs of MS usually sets in between ages 20 and 40. Just like other autoimmune conditions, MS is more common in women than men.
A nationwide study in Denmark concludes that the female-to-male ratio of MS is 2.35:1.
The same study suggests that people in the northern latitudes are at higher risk for developing MS.
There are four types of MS identified.
The RRMS is the most common type, affecting more than 80% of patients.
While it is not easy to identify the exact cause of Multiple Sclerosis, experts agree that a combination of genetics and environmental factors play a role in increasing the risk.
That is why Multiple Sclerosis genetic testing is becoming popular in identifying one’s risk of developing the condition. We will discuss more of this in the coming sections.
Lack of Vitamin D
Some studies suggest that a lack of vitamin D could be associated with a slightly increased risk of developing MS. This could be why people in the northern hemisphere experience MS more.
Smoking
Smoking is one of the biggest preventable environmental causes that lead to MS. Smoking causes DNA-level changes in the body, leading to autoimmune conditions.
Dietary salt intake
In the recent past, there have been studies that relate high dietary salt intake with an increased risk of MS.
Salt may encourage the activity of a type of cell in the immune system called the pathogenic T-helper 17 (Th17).
These cells can stimulate the immune system and encourage the development of an autoimmune condition like MS.
Epstein-Barr Virus infection (EBV infection)
EBV infection is widespread in human beings and is mostly asymptomatic. About 95% of all adults experience this infection at least once in their lifetimes.
EBV infection during adolescence or adulthood may increase the risk of developing MS by over-activating the immune system.
Genetics play a role in causing MS. A study shows that the family recurrence rate of MS can be up to 15%.
Individuals with first-degree relatives with MS have a 3-5% chance of developing the condition themselves. This increases to up to 30% in the case of monozygotic twins.
While multiple genes can increase the risk of MS, an important one is HLA-DRB1 (major histocompatibility complex, class II, DR beta 1).
This gene produces a protein called the beta chain that plays a role in immune functioning. This protein combines with another protein called HLA-DR antigen-binding heterodimer and helps identify foreign particles in the body.
According to studies, the HLA DRB1*1501 variant of this gene is found more in people with MS, suggesting that it may contribute to the risk.
Multiple Sclerosis genetic testing is a way of understanding a person’s potential risk for developing MS in the future.
While this is not a diagnosis or a confirmed identification of the condition, genetic testing may prove beneficial in the following individuals.
In all these cases, Multiple Sclerosis genetic testing may help point to or rule out MS or similar conditions that affect the myelin sheath.
Multiple Sclerosis genetic testing is still a field that’s being researched.
You can choose to get yourself tested. However, the presence of the risk alleles may not 100% mean the person will develop the condition.
In the same way, some people’s tests may not show the risk variant, but they could develop the condition because of other factors.
Researchers have identified several genes associated with ulcerative colitis.
In the sample report below, we've attempted to analyze some important genes that increase the risk of ulcerative colitis.
You can identify your genetic risk of ulcerative colitis by using your 23andMe DNA data and placing an order for the Gene Health Report.
Ulcerative colitis is a chronic condition of the digestive system. It is characterized by abnormal inflammation of the inner layer of the colon and the rectum.
This inflammation in ulcerative colitis often results in ulcers in the large intestine.
It is said to be a type of inflammatory bowel disease (IBD) and is most common in North America and Western Europe.
Anyone can develop ulcerative colitis, but it is more common in people between 15 and 30 years of age.
People with ulcerative colitis experience flare-ups several times throughout their lifetime.
The exact cause of ulcerative colitis is unknown, but doctors and researchers believe the condition develops due to a complex interplay of several factors.
A few common causes of ulcerative colitis include:
Since ulcerative colitis does run in families, researchers suggest that some genes may increase an individual’s risk of developing this condition.
Abnormal immune system reactions may lead to inflammation of the large intestine and may be responsible for ulcerative colitis in some individuals.
The microbes that live in the digestive tract, including bacteria, viruses, and fungi, help digestion and constitute the gut microbiome.
Studies have found that a disruption or abnormal change in the gut microbiome can result in IBDs like ulcerative colitis.
A complex interplay between an individual’s environment and how their body reacts to it may play a role in the development of ulcerative colitis.
However, further research is underway to understand how people’s genes, immune system, and gut microbiome interact with the environment to cause ulcerative colitis.
The symptoms of ulcerative colitis can vary among individuals.
A few common symptoms include:
The severity of the symptoms is directly related to the degree of inflammation of the rectum and the colon.
In some individuals, the severity of the inflammation may interfere with their regular routines and lives.
Ulcerative colitis is known to flare up and go into remission several times during an individual’s lifetime.
Common symptoms of a flare-up include:
Recent studies have identified several genes that may be linked to ulcerative colitis, but their exact roles still need to be understood.
Ulcerative colitis is thought to occur due to changes in the protective lining of the intestine or by an abnormal immune reaction, both of which occur due to genetic variations.
So, few genes involved are associated with the protective function of the intestinal lining, while others protect the body’s tissues from bacterial toxins.
A few abnormal genetic changes (mutations) may also cause the immune system to malfunction, resulting in chronic inflammation and ulcerative colitis.
Though there is no single ulcerative colitis gene, a few that have been associated with this condition include;
Of these, two genes that are of particular interest are IL23R and IRF5.
This gene provides instructions for making a protein called interleukin 23 receptor (IL-23).
This protein is present on the outer surface of immune system cells, including the T cells, and participates in defending the body against foreign substances.
The IL23R protein is also responsible for inflammatory reactions and is said to play a role in the development of ulcerative colitis.
Interferon regulatory factor 5 (IRF5) gives instructions for making the IRF5 protein.
This protein regulates proteins called cytokines, which participate in inflammatory immune reactions.
This gene may have a role to play in the development of ulcerative colitis.
The inheritance pattern of ulcerative colitis is unknown as many genetic and environmental factors are involved in its development.
However, having a family member, especially first-degree relatives, increases one’s risk of developing the condition.
Many factors can increase the risk of developing ulcerative colitis or cause a flare-up in people with the condition.
While factors like age and genes cannot be modified, lifestyle changes can help control and prevent the condition.
Here are a few common risk factors for ulcerative colitis:
Other factors associated with ulcerative colitis include a sedentary lifestyle and smoking.
Having a risk factor does not mean one will develop the condition.
Sleep is vital for one's health and well-being. Lack of sleep affects growth and stress hormones, our immune system, appetite, blood pressure, and cardiovascular health.
According to studies, not getting enough sleep increases your risk of disease, heart disease, and obesity.
This higher risk of chronic illnesses accompanies one another, leading to multimorbidity.
A new study by the University College London reports that getting <5 hours of sleep in mid-to-late life could be linked to an increased risk of developing at least two chronic diseases.
The ideal quantity of sleep varies by age and depends on the individual.
According to the National Sleep Foundation, these ranges are ideal:
Poor sleep hygiene can impact the quality of sleep.
Here are some factors that have a profound impact on your sleep duration.
The bedroom should be calm, dark, and light-free. A few hours before bed, blue light from devices such as TVs, computers, and phones should be avoided as it increases alertness.
Disorders like insomnia can make it difficult to fall or stay asleep and can result in poor-quality sleep.
The nighttime symptoms of narcolepsy include frightening dreams and frequent awakenings, which can impair sleep quality.
The exact mechanisms that control your sleep-wake cycle and whether you feel alert and awake or drowsy and relaxed are linked to the genes that may cause insomnia.
Serotonin, adenosine, GABA, hypocretin/orexin, and other neurotransmitters that are involved in your circadian rhythm may be impacted by these genes.
Researchers calculate that heredity contributes between 31% and 58% to your likelihood of having a shorter sleep duration.
There are 80 distinct genes with 126 variants associated with sleep duration.
Studies have found that alterations in the ADRB1 gene (Adrenoceptor Beta 1) are unique to naturally short sleepers.
This unique mutation that is inherited within the family seems to have reduced the sleep cycle of whoever received a copy of this mutant gene.
This gene implies further complications like resting heart rate, variation in and short sleep, and familial natural short sleep (FNSS).
Other characteristics of sleep, such as how much sleep you require, your chronotype, or whether you are an early bird or a night owl, are also influenced by your genes.
Researchers at the University of London analyzed the impact of sleep duration on the health of more than 7000 men and women at the ages of 50, 60, and 70.
The study was done over a period of 25 years and recorded how long each participant slept, their mortality, and whether or not they were diagnosed with 2 or more chronic conditions.
Chronic conditions include obesity, heart disease, cancer, diabetes, etc.
People who reported five hours or less of sleep per night at age 50 had:
In addition, it was discovered that a sleep duration of five hours or less at age 50 was linked to a 25% increased risk of mortality over a 25-year period of follow-up.
This association can largely be explained by the fact that short sleep duration increases the risk of chronic disease(s), increasing the risk of death.
Researchers examined if getting a long night's sleep—nine hours or more—had an impact on health outcomes as part of the study.
Long sleep durations at age 50 were not significantly associated with multimorbidity in healthy individuals.
Dyslexia is a neurological disorder that affects reading skills.
It is characterized by difficulty with phonemic awareness, phonology, and word decoding.
People with dyslexia may have trouble with some of the following:
Dyslexia occurs in individuals who have normal intelligence and normal vision.
It is the most common learning disability, affecting approximately 5-12% of the population.
The Gene Health Report gives an overview of your genetic risk for a range of health conditions, ranging from diabetes to heart disease.
Some of the neurological conditions included in the report are autism, epilepsy, Alzheimer’s, Parkinson’s, and multiple sclerosis (list not exhaustive).
Dyslexia in preschool and elementary school kids can manifest as trouble with
In older kids, teenagers, and adults, some common signs include:
Most people thinking of genetics imagine one gene being passed on from the biological parent to the child causing a condition.
While it is true for single-gene disorders, dyslexia doesn’t fall into the bracket.
With dyslexia, differences in multiple genes contribute to the condition.
These genes play a role in forming connections across the brain.
In dyslexia, the connection process is organized differently, contributing to difficulty in reading.
Studies have found 9 chromosomal regions (dyslexia susceptibility 1(DYX1)–dyslexia susceptibility 9 (DYX9)), which the researchers suspect contain the susceptibility genes.
From these regions, two genes, DCDC2 and KIAA03109, seem to have the strongest association with dyslexia.
The DCDC2 gene plays a crucial role in brain development
Changes in this gene have been associated with reading disability (RD), also referred to as developmental dyslexia.
Children with reading and writing difficulties are often found to harbor DCDC2 gene changes.
However, a more recent study challenged this association and reported that “DCDC2 deletion is not a strong risk factor for dyslexia.”
The KIAA0319 gene help with the formation of a part of the brain called the cerebral neocortex.
Changes in this gene are associated with developmental dyslexia.
Studies suggest that KIAA0319 is the most likely susceptibility gene for dyslexia from the DYX-1 to DYX-9 cluster.
Changes in this gene also play a role in specific language impairment.
There’s no clear inheritance pattern for dyslexia.
Reports suggest that about 40% of siblings of children with dyslexia tend to have reading issues.
49% of children born to biological parents with dyslexia also have dyslexia.
The risk increases when there are more affected family members.
There is an estimated 3–10‐fold increase in the relative risk for a sibling.
Both biological mothers and fathers can pass dyslexia on to their children if they have it.
There is roughly a 50%–60% chance of a child developing dyslexia if one of their biological parents has it.
There's no single gene that causes dyslexia.
However, biological parents with dyslexia have up to a 50-60% chance of having a child with the condition.
Studies have identified a gene called KIAA0319 that shows one of the most significant associations with dyslexia.
Emphysema is a type of Chronic Obstructive Pulmonary Disease (COPD).
About 16 million Americans have COPD. Millions of others show the symptoms but are still undiagnosed or untreated.
It is a condition that causes breathing difficulties due to air sac (alveoli) damage in the lungs.
The alveoli are like tiny balloons. They expand when they are filled with air and deflate when it flows out.
Due to certain conditions, the alveoli walls may become weak and saggy and cannot fully inflate and deflate.
As a result, the lungs cannot receive the needed oxygen or send out carbon dioxide.
Emphysema may go unnoticed in the early stages. Breathlessness sets in gradually, and people tend to ignore the symptoms until they worsen.
Emphysema often leads to lung failure and can be life-threatening. Therefore, it is important to get medical help early on.
Researchers have identified several genes associated with COPD.
In the sample report below, we've attempted to analyze some important genes that increase the risk of COPD.
You can identify your genetic risk of COPD by using your 23andMe DNA data and placing an order for the Gene Health Report.
The first symptom of emphysema that people notice is breathlessness or breathing difficulties.
Initially, the person may get breathless while performing physical activities like walking or climbing stairs.
Over time, the person may face breathing difficulties even while resting.
Other symptoms of emphysema are:
Smoking
Smoking remains the most common cause of developing emphysema.
Studies mention that about 10-15% of smokers develop the condition. The risk increases with the intensity of smoking.
Genetics may also play a role in causing the condition. We will discuss more on this in the coming sections.
Besides, environmental pollution could also lead to alveoli damage and emphysema.
Some of the common risk factors of emphysema are:
Intensity Of Smoking
According to studies, people may develop emphysema after 20-pack years of smoking. This means smoking one pack/day for 20 years or two packs/day for ten years.
Age
The average age of onset of symptoms is around 40, and the risk increases with age.
However, in people smoking marijuana, a type of drug, emphysema occurs at a young age.
Exposure To Irritants
Chronic exposure to second-hand smoke, workplace chemical fumes, and air pollution can all increase the risk of developing emphysema.
Emphysema could also be inherited and be a result of abnormal gene changes.
Alpha-1 Antitrypsin deficiency is a condition that leads to inherited emphysema.
Alpha-1 Antitrypsin (AAT) is a protein produced by the liver. Apart from various other functions, AAT protects the lungs from inflammation caused by exposure to external irritants.
When there is an AAT deficiency, there is a higher risk of developing emphysema and lung damage.
About one in 50 cases of emphysema could be inherited and caused by AAT deficiency.
SERPINA1 is a gene that controls the production of AAT in the body.
There are several mutations (abnormal changes) observed in this gene, and some of them could bring down AAT levels.
M is a normal allele of the gene, while Z is the risk allele that leads to low AAT production.
Studies suggest that there could be about 100,000 people living in the United States with the ZZ genotype, and they have a very high risk of developing severe emphysema.
Emphysema can lead to the below health complications.
Frequent Cold and Flu - People with emphysema develop cold and flu infections frequently, and the severity of the infection is high too.
Chronic Bronchitis - People with severe emphysema may develop chronic bronchitis, another type of COPD.
Both conditions, together, can lead to lung damage and subsequent failure.
Pneumonia - Due to alveoli damage, the person can develop pneumonia, a form of lung infection.
Lung Damage - If multiple alveoli get damaged, the lung’s capacity to function may be affected, leading to lung damage.
Lung Cancer - Emphysema is a risk factor for developing lung cancer.
Emphysema can be diagnosed with chest X-rays, CT scans, lung function tests, and other blood tests.
Emphysema cannot be cured. However, once diagnosed, it can be handled and kept controlled using the below solutions and treatment options.
Lifestyle Changes
Medicines and rehabilitation options
Surgery
About one in 50 cases of emphysema could be inherited and caused by lower production of the AAT protein.
Some people with just one risk allele could be carriers of the condition and pass them on to the next generation without getting affected.
Environmental factors and lifestyle habits may act as triggers for developing the condition early or can worsen the prognosis.
Genetic testing may provide valuable information on whether or not a person is at risk for developing the condition.
Autoimmune disorders are conditions in which the body’s immune system attacks healthy cells.
The immune system is designed to protect the body from infection and disease.
However, in people with autoimmune disorders, the immune system mistakes healthy cells for foreign invaders and attacks them.
This can cause a wide range of symptoms.
Autoimmune disorders can affect any part of the body and are often chronic, meaning they last for a long time.
Gilbert's syndrome is a genetic disorder that affects the liver's ability to process bilirubin.
Bilirubin is a yellow pigment produced when red blood cells are broken down.
Gilbert's syndrome is usually harmless and doesn't require treatment.
People with Gilbert's Syndrome may have yellowing of their skin or eyes, but this is usually not noticeable.
The symptoms of Gilbert's Syndrome are often mistaken for other conditions, such as jaundice.
So far, there’s no solid evidence to confirm that Gilbert’s syndrome is an autoimmune disease.
It occurs due to mutations in the gene called UGT1A1.
In the upcoming section, we'll discuss this gene and its association with Gilbert's.
Gilbert’s can be mistaken for an autoimmune condition that also manifests as high bilirubin levels - autoimmune hepatitis.
Autoimmune hepatitis occurs when the body's immune system incorrectly targets and attacks the liver.
This can lead to chronic inflammation and serious damage to the liver cells.
Most people with Gilbert’s syndrome don't have symptoms.
This is because the symptoms are apparent only when bilirubin levels rise beyond a limit.
Most people with Gilbert’s have enough liver enzymes to break down bilirubin.
For those who don’t, bilirubin levels rise in the blood and can cause the following symptoms:
Certain factors trigger the rise of bilirubin levels. They include
Gilbert’s syndrome occurs due to mutations in the UGT1A1 gene.
This gene is located on the long arm (q) of chromosome 2 (2q37).
The UGT1A1 gene contains instructions for producing a liver enzyme known as uridine diphosphate-glucuronosyltransferase-1A1 (UGT1A1).
This enzyme carries out the excretion of bilirubin from the body.
Mutations or changes in this gene can result in reduced levels of the UGT1A1.
People with Gilbert's have only one-third of the normal enzyme activity as others.
Gilbert’s syndrome is inherited in an autosomal recessive manner.
What does this mean?
Humans have 2 copies of every gene - one from each of the biological parents.
If an individual receives one normal gene and one gene with mutations for Gilbert’s, the person will be a carrier for the condition but usually will not show symptoms.
The risk for two carrier biological parents to both pass the mutated gene and, therefore, have an affected child is 25% with each pregnancy.
The chances of 1 parent passing the mutated gene and having a child who is a carrier is 50% with each pregnancy.
The risk is the same for males and females.
People with Gilbert’s syndrome may not get diagnosed in the early stages.
Mostly, diagnoses happen when they are in their 20s or 30s.
Some diagnostic tests for Gilbert’s include:
Most people with Gilbert’s do not need any treatment.
Some tips to prevent bilirubin level rise are:
It is important to note that the UGT1A1 enzyme that breaks down bilirubin also breaks down certain drugs like acetaminophen, cancer and hepatitis drugs, and monoclonal antibodies.
If you have Gilbert’s, it is advisable to consult your doctor before taking medicines.
https://www.webmd.com/children/what-is-gilbert-syndrome
https://medlineplus.gov/genetics/gene/ugt1a1/
https://www.mayoclinic.org/diseases-conditions/autoimmune-hepatitis/symptoms-causes/syc-20352153
https://www.spandidos-publications.com/10.3892/etm.2020.9219
