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About 1 in 4 people faint at some point in their lives.
Fainting or passing out is when an individual loses consciousness for a short period.
This commonly occurs when a sudden decrease in blood pressure causes reduced blood flow to the brain.
A fainting episode typically lasts for a few seconds or minutes.
Though fainting is usually not a cause of concern, it is important to seek medical attention if it happens too often.
A few other causes of fainting include:
Image: How to help someone who has fainted
A few factors increase the risk of fainting, and these include:
Fainting is not just caused by external factors. Your genes have a role to play as well.
A study published in the Neurology journal stated that fainting has a strong genetic component, but it may be affected by multiple genes and environmental factors.
The same study also said that the frequency of fainting among non-twin relatives was low, which suggests that the condition is neither inherited nor caused by a single gene.
Danish researchers found that a part of chromosome 2 may increase an individual’s risk for fainting.
Humans have 23 pairs of chromosomes, i.e., 46 chromosomes.
An individual can have one, two, or no fainting-related genes on chromosome 2.
People with the fainting risk variant on both versions of chromosomes have a 30% higher risk of fainting than those without the variant.
Though some studies indicate that women may be at a higher risk of fainting than men, the exact reason for this is unknown.
Image: 5 facts about fainting
If you have experienced fainting in the past, it is important to observe which activities trigger it. Knowing what triggers your fainting spells can guide you toward avoiding them.
A few strategies you can use to prevent fainting are:
If your fainting episodes are due to a medical condition, your doctor will recommend suitable measures to prevent it.
Kidney stones are mineral and salt deposits that form in the kidneys and affect the functioning of the urinary tract.
Kidney stones are also called nephrolithiasis (NL) or renal stones. According to studies, about 8.8% of Americans develop kidney stones.
About 75% of renal stones are made of calcium. These can also be made up of uric acid, cystine (a protein building block), or minerals like struvite.
Kidney stones can be of different sizes and must pass out of the body through urine.
Smaller stones may pass through the urinary tract unnoticed or with minimal discomfort.
Larger kidney stones can block urine flow and lead to kidney complications. Different factors influence the creation of kidney stones, and genetics is one of them.
Kidney stones often show no symptoms until they start moving and enter the ureters.
The ureters are tubes that carry urine from the kidney to the bladder.
If the kidney stone blocks the ureters, it can give rise to symptoms like
It is often not easy to identify the exact cause of kidney stones.
Stones can develop when your urine has an excess of calcium, uric acid, cystine, struvite, or oxalate, all of which can form crystals and develop stones.
Sometimes, the contents in your urine may encourage crystals to stick together. This may cause stone formation.
We will discuss some risk factors for kidney stones in the coming sections.
Kidney stones are multifactorial (influenced by multiple factors). Genetics, environmental causes, diet, and hormonal changes can play a role in causing the condition.
Inheritance of kidney stones
The inheritance pattern of kidney stones is unclear.
People with a sibling or a parent with kidney stones have an overall increased risk of developing the condition.
Two-thirds of people with calcium-based kidney stones have close relatives with the same condition.
Multiple genes may influence the formation of kidney stones.
Some of the important ones include:
| Gene | |
| ADCY10 | Adenylate cyclase 10 |
| APRT | Adenine Phosphoribosyltransferase |
| SLC26A1 | Solute Carrier Family 26 Member 1 |
| SLC22A12 | Solute Carrier Family 22 Member 12 |
| SLC2A9 | Solute Carrier Family 2 Member 9 |
| SLC34A3 | Solute Carrier Family34 Member 3 |
| VDR | Vitamin D Receptor |
Changes in these genes may cause an imbalance in the urinary inhibitors and promoters of crystallization, increasing or decreasing a person’s chances of developing kidney stones.
Some risk factors that may lead to kidney stones are:
When treating kidney stones, the options vary depending on the size of the stone, the physical discomfort it causes, and the pressure it puts on the kidneys.
For smaller stones, doctors may advise drinking 3-4 liters of water daily to help pass the stone.
For slightly larger kidney stones, the doctor may suggest a particular type of medication called an alpha-blocker.
This relaxes the ureter muscles and helps pass the stone quickly and painlessly.
For larger stones that block the ureter and put pressure on the kidneys, there are three treatment options considered.
Extracorporeal Shock Wave Lithotripsy (ESWL) - Sound waves create vibration and break the larger stone into smaller pieces, which can then be easily passed on in the urine.
Ureteroscopy - A small telescope is passed through the urethra to identify the stone. This is then broken into smaller pieces using special instruments.
Percutaneous Nephrolithotomy - This is a minimally invasive technique where a small incision is made at the back of the body, and a camera and small instruments are sent through the incision to the kidneys. The stone is broken and removed surgically.
Genetic testing will help you understand your risk of developing kidney stones.
Even if you are genetically prone to developing stones, some lifestyle changes below may help combat the risk.
A condition called percutaneous nephrolithotomy may cause high calcium levels in the body, and this could be a reason why a person develops kidney stones frequently.
Controlling the activity of the parathyroid glands may help handle this condition.
Kidney stones, especially the ones caused by excess calcium crystallization, may be genetically influenced.
In most cases, a combination of genes, environmental causes, and lifestyle leads to the formation of kidney stones.
Making small lifestyle changes and testing your genes can help you stay aware of the condition and get treated early on.
Is Epilepsy Hereditary? It is estimated that 1 in 26 people will develop epilepsy in their lifetime. While the cause of epilepsy is unknown in the majority of cases, researchers have identified certain genes that may be associated with the disorder. In this article, we will discuss what is known about the genetics of epilepsy and whether there is a single “epilepsy gene.”
Researchers have identified several genes associated with epilepsy.
In the sample report below, we've attempted to analyze some important genes that increase the risk of epilepsy.
You can identify your genetic risk of epilepsy by using your 23andMe DNA data and placing an order for the Gene Health Report.
Epilepsy is a chronic neurological disorder that affects people of all ages.
It is characterized by recurrent seizures ranging from brief and nearly undetectable to long and debilitating.
Epilepsy can be caused by many factors, including head injuries, genetic predisposition, and infections.
There is no cure for epilepsy, but certain medications and treatments can help manage it effectively.
Epilepsy is genetic if the seizures occur due to a genetic defect.
However, not all cases of genetic epilepsy are inherited.
Some genetic defects can occur spontaneously in people even if they are not present in either biological parent.
Most cases of idiopathic (cause unknown) epilepsy are due to abnormal changes in several genes.
Each of these genes contributes to a small percentage of epilepsy risk; when someone inherits a combination of these genes, they can be at high risk for epilepsy.
Genetic variants underlie about 30-40% of epilepsy cases.
However, analyzing a person’s chance of inheriting epilepsy is complicated.
For instance, two siblings with epilepsy may have inherited mutations in different genes.
On the other hand, two family members with the same genetic mutation for epilepsy may manifest symptoms in different ways.
Furthermore, inheritance pattern varies depending on the type of epilepsy - like focal, idiopathic, or generalized epilepsy.
What are the chances of your inheriting epilepsy?
With the advancements in genetic technologies, research studies are discovering more and more genes associated with epilepsy.
According to a study based on search results from the OMIM database, 84 genes were classified as epilepsy genes.
Some are directly associated with epilepsy, some are associated with conditions whose core symptom is epilepsy, and some are associated with epilepsy and multiple other phenotypes.
| Phenotype (in order of the onset age) | Gene |
| Neonatal | |
| Pyridoxamine 5'-phosphate oxidase deficiency (PNPOD) | PNPO |
| Pyridoxine-dependent epilepsy (EPD) | ALDH7A1 |
| Benign familial neonatal seizures (BFNS) | KCNQ2, KCNQ3 |
| Infantile and childhood | |
| Familial infantile myoclonic epilepsy (FIME) | TBC1D24 |
| Benign familial infantile seizures (BFIS) | PRRT2, SCN2A, SCN8A |
| Amish infantile epilepsy syndrome (AIES) | ST3GAL5 |
| Early infantile epileptic encephalopathy (EIEE) | CACNA1A, GABRA1, GABRB3, KCNQ2, KCNT1, SCN2A, SCN8A |
| AARS, ARV1, DOCK7, FRRS1L, GUF1, ITPA, NECAP1, PLCB1, SLC12A5, SLC13A5, SLC25A12, SLC25A22, ST3GAL3, SZT2, TBC1D24, WWOX | |
| CDKL5 | |
| ARHGEF9 | |
| ALG13, PCDH19 | |
| DNM1, EEF1A2, FGF12, GABRB1, GNAO1, GRIN2B, GRIN2D, HCN1, KCNA2, KCNB1, SIK1, SLC1A2, SPTAN1, STXBP1, UBA5 | |
| Dravet syndrome (DS) | SCN1A, SCN9A |
| Familial febrile seizures (FFS) | GABRG2, GPR98, SCN1A, SCN9A |
| CPA6 | |
| Generalized epilepsy with febrile seizures plus (GEFS + ) | GABRD, GABRG2, SCN1A, SCN1B, SCN9A, STX1B |
| Generalized epilepsy and paroxysmal dyskinesia (GEPD) | KCNMA1 |
| Myoclonic-atonic epilepsy (MAE) | SLC6A1 |
| Childhood-onset epileptic encephalopathy (COEE) | CHD2 |
| Focal epilepsy and speech disorder (FESD) with or without mental retardation | GRIN2A |
| Childhood absence epilepsy (CAE) | GABRG2 |
| CACNA1H, GABRA1, GABRB3 | |
| Juvenile and later | |
| Juvenile absence epilepsy (JAE) | CLCN2, EFHC1 |
| Juvenile myoclonic epilepsy (JME) | CACNB4, CLCN2, EFHC1, GABRD |
| GABRA1 | |
| Idiopathic generalized epilepsy (IGE) | CACNB4, CLCN2, GABRD, SLC12A5, SLC2A1 |
| CACNA1H, CASR | |
| Familial adult myoclonic epilepsy (FAME) | ADRA2B |
| CNTN2 | |
| Familial temporal lobe epilepsy (FTLE) | CPA6, GAL, LGI1 |
| Not specific | |
| Progressive myoclonic epilepsy (PME) | KCNC1 |
| CERS1, CSTB, EPM2A, GOSR2, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2 | |
| Nocturnal frontal lobe epilepsy (NFLE) | CHRNA2, CHRNA4, KCNT1 |
| CHRNB2 | |
| Familial focal epilepsy with variable foci (FFEVF) | DEPDC5 |
Epilepsy trigger is not the same as epilepsy cause.
Triggers are discussed in a person who already has epilepsy.
Triggers result in seizures in a person with epilepsy.
Some common triggers are:
Used to identify any changes in the number of chromosomes and large deletions, duplications, and inversions of the genetic material.
A very common choice for epilepsy genetic tests.
Around 10% of people with epilepsy have abnormal CMA results.
Used to visualize missing or extra pieces of genetic material.
Uses next-generation sequencing (NGS) technologies to visualize multiple genes associated with epilepsy simultaneously.
Analyzes all the portions of the DNA that make protein.
Can explain the genetic cause of 30% of epilepsy cases.
Analyze the entire DNA content (the genome) of an individual.
Currently employed majorly for research purposes and not so much in clinical settings.
Analyzes genetic changes called single nucleotide polymorphisms associated with epilepsy.
Not used for diagnosis; provide a genetic risk landscape for epilepsy.
Epilepsy is a neurological condition characterized by recurrent seizures.
Most idiopathic epilepsy cases have a genetic background do it.
Epilepsy in biological parents increases the risk of their children developing it; the risk increases when the biological mother is affected.
Most genes implicated in epilepsy play a role in regulating the entry of ions like sodium and calcium into the cell.
Some diagnostic genetic tests for epilepsy include karyotyping, chromosomal microarray, and whole-exome and whole-genome sequencing.
Genotyping analyzes small changes in genes (called single nucleotide polymorphisms) to provide a genetic risk landscape for epilepsy.
It is widely known that breastfeeding has many benefits for both mother and child. However, one potential benefit that is not as well known is that breastfeeding may also reduce a woman’s risk of developing breast cancer later in life. In fact, according to a 2018 study, “breastfeeding for 12 months or longer can lower a woman’s risk of breast cancer by up to 28% compared to women who never breastfed.
According to the American Academy of Pediatrics (AAP), exclusive breastfeeding of infants for about the first six months and continued breastfeeding for a year or longer after introducing solid foods is recommended.
The World Health Organization(WHO) also recommends exclusive breastfeeding for the first six months of an infant’s life.
Exclusive breastfeeding refers to giving infants only breast milk and no other solid or liquid foods.
According to the Centre for Disease Control and Prevention(CDC), only one in four infants are exclusively breastfed for the first six months.
Breastfeeding is beneficial for both the infant and the mother. Benefits of breastfeeding include:
Research shows that breastfeeding mothers have a lower risk of developing pre and postmenopausal breast cancer.
This benefit increases with an increase in the duration of breastfeeding for more than 6 months.
Researchers have put forth several possible explanations to address the link between breastfeeding duration and breast cancer risk.
All these explanations revolve around exposure to one of the female sex hormones, estrogen.
Estrogen stimulates breast cell growth.
Prolonged exposure to estrogen can increase the risk of breast cancer.
Women have lower levels of estrogen during breastfeeding periods.
This is because breastfeeding delays menstrual periods.
The lifetime exposure to estrogen decreases with longer breastfeeding durations, decreasing the risk of breast cancer.
Another reason is that the breast sheds a lot of tissue after lactation.
During this process, it may also eliminate cells with damaged DNA that may lead to cancerous growth.
Lactation may also lead to changes in gene expression in breast cells.
This can decrease the risk of cancer development.
A meta-analysis study showed that breastfeeding contributed to a 20% reduced risk for triple-negative breast cancer and a 10% reduced risk for estrogen receptor-negative breast cancer.
Studies have estimated that the heritability of breastfeeding duration ranges from 44 to 54%. People with certain genetic types may tend to breastfeed their children for a longer duration than others.
The XRCC2 gene contains instructions for producing a DNA repair protein.
This protein also helps maintain chromosomal stability.
Changes in this gene are associated with an increased risk of breast cancer and Fanconi anemia.
Fanconi anemia is a rare but serious blood disorder that prevents your bone marrow from making enough new blood cells for your body.
It is passed down through families.
rs3218536
rs3218536 is a single nucleotide polymorphism or SNP in the DNA-repair gene XRCC2.
A 2010 study examined the role of DNA repair deficiencies in cancer development, especially in breast cancer.
The study population was divided into women who breastfed and women who had never breastfed.
It was observed that among women who had never breastfed, those who carried the AG genotype of rs3218536 had a lower risk of breast cancer than those with the other genotypes.
After classifying this group according to their menopausal status, it was observed that postmenopausal women with the A allele had a lower risk of breast cancer than those with the G allele.
The MDM2 gene contains instructions for producing Mouse double minute 2 homolog (MDM2) protein. It is also known as E3 ubiquitin-protein ligase Mdm2 protein.
This protein acts as a negative regulator (suppresses the activity) of the p53 tumor suppressor protein.
A study has reported that the activity of the MDM2 gene seems to be amplified in breast cancer cells.
rs2279744
rs2279744, also known as 410T-G, has been studied for several years to determine its role in cancer.
This SNP influences the ability of the MDM2 protein to bind to the p53 tumor suppressor protein.
The G allele of this SNP is associated with an increased risk for breast cancer, especially in women who have breastfed for less than 6 months and women who are obese.
Some factors that influence breastfeeding duration include:
Is cleft lip genetic? A cleft lip is a congenital disability where the upper lip and nose do not form properly. It is one of the most common congenital disabilities in the world. Cleft lip is usually due to a combination of genetic and prenatal factors. Most people with cleft lip have no family history of the condition. However, certain genes may increase the risk of cleft lip.
Source: Cleft Collective Study
Cleft lip and cleft palate (CLCP) are common congenital disabilities that occur when the baby’s lip and mouth parts do not develop well during pregnancy.
Together, these defects are called orofacial (relating to mouth and face) defects.
They can be isolated or associated with other inherited conditions and genetic syndromes.
In cleft palate, the two halves of the roof of the mouth don’t join completely.
With cleft lip, the tissue forming the lip does not join completely before birth.
This can occur on one side of the face (unilateral CLCP) or both sides (bilateral CLCP).
The cause of CLCP is unknown.
Research suggests that certain genetic factors and prenatal environment play a role.
The most common treatment option for CLCP is surgery.
Those treated for cleft lip or palate typically have normal lives.
Around the end of the first month or beginning of the second month of pregnancy, the baby’s mouth develops as two halves which grow closer together and fuses by the 6th or 8th week of pregnancy.
This fused part moves forward and backward to form the lips and uvula, forming the full mouth by the 10th week of pregnancy.
With cleft palate or cleft lip (or both), the two halves of the palate do not fuse.
Around 1 in 1000 babies are born with CLCP worldwide.
In the United States, 1 in 1600 babies are born with CLCP, 1 in 2800 babies are born with cleft lip, and 1 in 1700 babies are born with cleft palate.
There’s no single “cleft lip gene.”
However, research points to combinations of different genes as a risk factor for cleft lip.
According to a study, the risk for cleft lip in first-degree relatives with a family history of this condition is 32 times higher than those without.
To date, 13 genome-wide linkage scans have been performed for CLCP.
They have identified several candidate genes for cleft lip, some of which are:
A 2014 study reviewed the plausible biological role of a few of these genes in cleft lip and cleft palate.
Determining the inheritance of cleft lip is tricky, as it is associated with several conditions.
If a parent has cleft, the child has a 2-8% chance of inheriting it (if cleft lip is seen as a condition by itself).
If the parent’s parents or siblings also have cleft lip, the inheritance chances raise to 10-20%
However, if it’s associated with other genetic conditions, the inheritance can be as high as 50%.
A family history of cleft lip, with the parents unaffected, gives rise to an inheritance rate of <1%.
With no family history at all, the likelihood of having a child with cleft is 0.14%.
When a child with cleft lip is born to unaffected parents, their chances of having another child with cleft lip is 2-8%.
The prevalence of CLCP is the highest in those of Asian or Amerindian descent (1/500) and least in those of African descent(1/2500).
Caucasian populations have an intermediate prevalence rate (1/1000).
According to the CDC, those who smoke during pregnancy are at an increased risk of having a baby with an orofacial cleft than those who don’t smoke.
Studies hypothesize an association between clefting and errors in the alcohol-metabolizing gene ADH1C.
A study reported that errors in alcohol metabolism combined with heavy maternal alcohol consumption increase the risk for orofacial clefts.
Some evidence supports that women with diabetes before pregnancy are at increased risk of having a baby with cleft lip.
Medications that treat seizures (like topiramate or valproic acid) taken during pregnancy (first trimester) can increase cleft lip risk in the baby.
Ultrasound can pick up cleft lip anywhere between 18-21 weeks of pregnancy.
However, it can be difficult to diagnose some cases of clefting through routine ultrasounds.
In this case, it can be diagnosed immediately after birth or within 72 hours.
Surgery is the most common treatment option for cleft lip.
It is done within the first 12 months of life.
Surgical repair not only improves the appearance but also breathing, hearing, and speech clarity.
Speech and language therapy can help manage speech clarity problems.
Orthodontist support may be helpful in looking after the child’s dental health.
Children treated for cleft lip tend to have normal lives.
If the cleft lip is a manifestation of another genetic condition, their outlook will depend on the nature of the underlying condition.
Surgery for cleft correction doesn’t have major side effects except for a small scar that fades over time.
A cleft lip is a congenital disability resulting in improper lip or mouth palette closure.
Cleft lip develops during the 10th week of pregnancy and is a condition by itself or associated with other genetic conditions.
Cleft lip in parents, siblings, or second and third-degree relatives can increase the risk of a child being born with this condition.
Genes implicated in cleft lip play a role in the development of craniofacial features.
Routine ultrasound typically picks up cleft lip, and this condition can be treated within a year of birth.
Once treated, it is possible to live a full and normal life.
https://pubmed.ncbi.nlm.nih.gov/18250102/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925974/
https://www.nhs.uk/conditions/cleft-lip-and-palate/
https://www.news-medical.net/health/Causes-of-cleft-lip-and-palate.aspx
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925974/#R25
In the past, if a woman wanted to know her risk for developing breast cancer, she would simply look at her family history. However, thanks to advances in genetic testing, women can now get a more accurate assessment of their risk by testing for the BRCA genes. While this test is not foolproof, it can give women a better idea of their chances of developing breast cancer and help them make more informed decisions about their health.
Getting a BRCA genetic report for breast cancer can help you in numerous ways.
Some of them include:
The benefits of genetic testing are that it can be used for unique screening protocols, which will aid in the early detection of breast cancer or help identify breast cancer risk.
It is important to note that only 5 to 10% of breast cancer incidences are due to inherited mutations.
According to The National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High-Risk Assessment (version 2017): Breast and Ovarian cancer were developed with the intent to
You should consider genetic testing if you meet any of the following criteria.
Genetic surveillance of women, with the accent on the ethnic background, age, family history and in another appropriate clinical context, will help in stratifying women into high-risk groups so that there is increased surveillance, an extension of chemoprevention or the utilization of risk reduction surgery.
You can now find out if you carry the variants that increase breast cancer risk from Xcode’s Breast Cancer report by uploading your 23andme or any other ancestry DNA raw data.
You can read more about the Xcode Breast Cancer report here.
