What Genes Play A Role In Type 1 Diabetes
There is not just one gene that causes type 1 diabetes. Instead, it is a combination of genes that increases your risk of disease development. Some of these diabetes genes have been identified and are being studied to see how they contribute to the development of type 1 diabetes.
HLA, or human leukocyte antigen, genes are thought to play an important role in the development of diabetes in individuals. These genes are on chromosome 6 and are involved in the regulation of the immune system. People with certain variations of these genes are more likely to develop type 1 diabetes.
Linkage And Association Studies
The 2 primary approaches used to identify risk loci for T1D have been linkage studies and association studies. Linkage studies, typically using affected sibling pairs, can identify regions of the genome that are shared more frequently among affected relatives. Linkage studies use markers spanning the genome at a modest density and are the method of choice when the risk factors have large effect sizes but are relatively rare. They provide broad information on chromosomal regions that may contribute to T1D risk. The most important and consistent evidence of linkage for T1D has been in the HLA region on chromosome 6p21 . A metaanalysis done by the Type 1 Diabetes Genetics Consortium provided a total sample of 1435 families with 1636 affected sibling pairs . In addition to the HLA region , 9 nonHLA-linked regions showed some evidence of linkage to T1D , including 3 at genomewide significance : 2q31-q33, 10p14-q11, and 16q22-q24.
Alternatives To Injecting Insulin
There has been plenty of research done in recent years to develop ways to administer insulin other than by injection. These have included insulin nasal and oral sprays, patches, tablets and inhalers. After many years of work, some of the methods being researched are showing a degree of success. However, it will be some time before any of these devices will be available to people with diabetes in the UK.
Is There A Diabetes Gene
Scientists have not identified one gene which causes type 1 diabetes. Instead, they’ve discovered mutations in a tribe of genes called the human leukocyte antigen complex. Specific combinations of these mutations seem to confer a higher risk of developing type 1 diabetes.
“These mutations are associated with changes in one’s immune system which stimulates an autoimmune destruction of the insulin-producing cells of the pancreas leading to type 1 diabetes,” Deena Adimoolam, MD, a specialist in endocrinology and preventative medicine in New Jersey tells Health.
Specifically, these genes, which are located on chromosome 6, help the immune system identify which compounds are natural to the body and which shouldn’t be there. Without this ability, the immune system has no way to tell which compounds are friend and which are foe.
This same gene complex is also involved in other autoimmune diseases, which may explain another feature of type 1 diabetes.
“Patients with type 1 diabetes can have other autoimmune diseases,” says Dr. Olansky. “They probably have a similar pathway.”
But the changes in HLA genes only explain about 40% of the genetic risk for type 1 diabetes. There are other genes that can not only increase the risk but also lower the risk. “There are a lot of other genes that modify that risk and make it greater or lesser,” says Dr. Olansky.
Is Type 1 Diabetes Hereditary
We are also unsure about whether type 1 diabetes is hereditary or not. While 90 per cent of people who develop type 1 diabetes have no relative with the condition, genetic factors can pre-dispose people to developing type 1 diabetes.
Certain gene markers are associated with type 1 diabetes risk. A child born with these will have the same risk of developing type 1 diabetes as a child with siblings with type 1 diabetes. However, having the marker alone is not enough to cause someone to develop type 1 diabetes it is thought that an additional trigger causes type 1 diabetes to develop.
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How Type 1 Is Different From Type 2
Although type 1 diabetes and type 2 diabetes may seem similar, they are .
- With type 1 diabetes, the body cant produce insulin properly due to the destruction of the insulin-producing cells in the pancreas. This condition is an autoimmune disorder caused primarily by genetic factors.
- With type 2 diabetes, the body cant use insulin properly and, in some cases, may not be able to produce enough insulin either. This condition is caused by lifestyle factors and genetics.
While type 1 diabetes is the condition that has the strongest genetic risk factors, there are also certain genetic risk factors for type 2 diabetes as well, including family history, age, and race.
New Genetic Risk Test For Type 1
Dr Oram and colleagues have developed a test which looks for 30 genetic changes in a persons DNA. Each of the 30 genetic changes carries a small risk of Type 1 diabetes, and the test combines all these risks into a single score, which represents a summary of a persons genetic risk for Type 1 diabetes. If a person score is high, they are more likely to have Type 1 diabetes. If the score is low, they are more likely to have Type 2 diabetes.
You can watch a video about this exciting research on theReuters website.
Dr Oram says There is often no going back once insulin treatment starts. This may save people with Type 2 diabetes from being treated with insulin unnecessarily, but also stop the rare but serious occurrence of people with Type 1 being initially treated with tablets inappropriately and running of the risk of severe illness.
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Who Is Most At Risk For Developing Type 1 Diabetes
Besides your family having diabetes, there are several risk factors that increase your chances of developing type 1 diabetes. These include:
- Being Caucasian
- Age most cases of type 1 diabetes occur as a child, teen, or young adult
Although there are ways to prevent type 2 diabetes, there are no known ways to prevent type 1 diabetes. Also, diabetes in children is common due to the fact you are more likely to be diagnosed with type 1 diabetes by age 14. However, you can still be diagnosed with it at any age.
How Genetic Factors Affect The Bodys Immune Response In Type 1 Diabetes
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New insights into how genetic factors affect the bodys immune response in type 1 diabetes have been published in eLife.
The findings provide evidence of a direct link between genetic factors associated with susceptibility to type 1 diabetes and immune functionality, particularly involving immune T cells. They also highlight 11 genes which could be explored as potential candidates for new treatments.
Type 1 diabetes develops when the bodys immune system mistakenly attacks groups of insulin-producing beta cells in the pancreas. There are currently over nine million people diagnosed with type 1 diabetes, but there is no cure and patients need to have regular insulin injections to manage the condition. People with certain genetic variations are more susceptible to type 1 diabetes. But while previous studies have identified around 60 associated variations, it is still unknown how they influence the condition.
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Testing Stratification Loci In T1dgc Set 3 Families
Families from the final T1DGC cohort were stratified as above, but the analyses were only performed for the loci with LOD > 3 or with significant differences between stratified sets, as discussed above. Results of these confirmation tests are summarized in . Three stratified loci could be confirmed unequivocally: the locus on chromosome 19q for HLA IBD siblings and the loci on chromosome 6q13/14 for male and INS Tx siblings the same gene may be responsible for these chromosome 6q loci. Another two loci had significant scores on the same chromosome but outside the region within one LOD unit of the peak : 8q13 for INS AA genotype siblings and 7q36 for older age-of-onset siblings. In complex diseases, the location of causative genes may be displaced compared with both the peak and LOD-1 interval therefore, these regions warrant further investigation.
The correlation with GWAS-identified loci also is presented in . The following are five of the stratified loci that had suggestive LOD scores in regions that gave significant results in the T1DGC GWAS : PRKD2, CTRB2, CENPW , INS, and C19orf19. Association of these SNPs listed in could be followed-up in future studies of subsets of type 1 diabetes cases.
Genetic Prediction Models For Type 2 Diabetes Can Be Valuable In The Future
Previously published genetic studies have severe limitations that underestimate the true significance of genetic variants in predicting type 2 diabetes . Genetic prediction models can be improved by increasing the precision of the diagnosis of type 2 diabetes, by identification of low-frequency and rare genetic variants, by identification of risk variants for type 2 diabetes in nonEuropean ancestry populations, by increasing knowledge on structural variation and epigenetics, and by developing statistical techniques to evaluate gene-gene and gene-environment interactions.
Necessity of improving the precision of the diagnosis of individuals with diabetes.
Type 2 diabetes is a chronic hyperglycemic condition that is not type 1 diabetes or other subtypes of diabetes, which include genetic defects of insulin secretion and action, diseases of exocrine pancreas, endocrinopathies, drug- or chemically induced diabetes, diabetes in connection with infections, uncommon forms of immunomediated diabetes, other genetic syndromes sometimes associated with diabetes, or gestational diabetes mellitus . In other words, there is no precise definition of type 2 diabetes. In fact, this main subtype of diabetes is defined by excluding all other conditions leading to chronic hyperglycemia.
New sequencing techniques will identify low-frequency and rare variants with large effect sizes.
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New Genetic Discoveries May Hold Clues To Predict Prevent Type 1 Diabetes
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The etiology of type 1 diabetes continues to be debated, although experts agree it is likely a mix of genetic and environmental causes. Today, more than 50 regions of the human genome are implicated in type 1 diabetes.
Within each region, researchers are identifying new genes, biological pathways and potential therapeutic targets for intervention, but a cure or a way to prevent progression to type 1 diabetes remains elusive.
At the same time, cases of type 1 diabetes are surging in the U.S. According to the CDCs National Diabetes Statistics Report released in February, the number of people diagnosed with type 1 diabetes rose by nearly 30% since 2017, with the greatest increases observed among minority children.
The big mystery in type 1 diabetes is, why does it happen?Louis H. Philipson, MD, PhD, FACP, professor of medicine, director of the Kovler Diabetes Center at the University of Chicago School of Medicine, and former president of medicine and science for the American Diabetes Association, told Endocrine Today. Is there an environmental cause or a genetic cause? Autoimmune diseases, as a group, tend to be not all that inheritable. That is sometimes a surprise to people.
Family diabetes history
Type 1 diabetes in twins can also develop at different times, Philipson said.
Clues from monogenic diabetes
New Developments In The Field
To date, the field of diabetes genetics has focused on detecting monogenic disorders, but now attention is turning to utilisation of information about the polygenic risk of diabetes. Single nucleotide polymorphisms can modify the risk of type 1 and type 2 diabetes, both polygenic conditions. Summing up the risk of individual SNP genotypes can provide a composite polygenic risk score. In diabetes, these risk scores have been used to support diabetes classification, given the challenge of differentiating type 2 diabetes from adult-onset type 1 diabetes and also MODY.21,22 The impact of using this clinical information and its applicability in all ethnicities have yet to be determined, and those in the field await further studies.23
Shivani Misra, Consultant in Diabetes and Metabolic Medicine, Imperial College Healthcare NHS Trust, London
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Keep Your Blood Pressure Down
It is very important to have your blood pressure checked regularly. The combination of high blood pressure and diabetes is a particularly high risk factor for complications. Even mildly raised blood pressure should be treated if you have diabetes. Medication, often with two or even three different medicines, may be needed to keep your blood pressure down. See the separate leaflet called Diabetes and High Blood Pressure.
Study Explores How Genetics Influence Immunity In Type 1 Diabetes Patients
New insights into how genetic factors affect the body’s immune response in type 1 diabetes have recently been found.
The findings, published in eLife, provide evidence of a direct link between genetic factors associated with susceptibility to type 1 diabetes and immune functionality, particularly involving immune T cells. They also highlight 11 genes which could be explored as potential candidates for new treatments.
Type 1 diabetes develops when the body’s immune system mistakenly attacks groups of insulin-producing beta cells in the pancreas. There are currently over nine million people diagnosed with type 1 diabetes, but there is no cure and patients need to have regular insulin injections to manage the condition. People with certain genetic variations are more susceptible to type 1 diabetes. But while previous studies have identified around 60 associated variations, it is still unknown how they influence the condition.
Xiaojing added, “In our study, we explored how genetic factors affect immune cells and their cytokine production in people with type 1 diabetes, as well as the differences between the immune response in patients and a healthy response.”
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What Are The Odds Of A Child Having Type 1 Diabetes If The Father Or Mother Has It
The risk is about 1 in 17 for the incidence of type 1 diabetes in the children if the father has it. For mothers, the age your mother gave birth to you can be a factor. If your mother gave birth to you before 25, you have a 1 in 25 chance of developing type 1 diabetes. However, if your mother gave birth to you after the age of 25 then you have a 1 in 100 chance of developing diabetes, which is about the same rate as the average person whose parents dont have type 1 diabetes.
There are several risk factors to consider that can boost the chances of your child having diabetes. For example, if both parents have type 1 diabetes, the childs risk is about 25%. If either parent had type 1 diabetes before the age of 11, then their childs chances of developing diabetes doubles. Also, if either parent has autoimmune polyglandular syndrome, the chances of the child having type 1 diabetes are 50%.
Reducing The Risk Of Passing On Diabetes
Researchers have yet to discover all the genetic risk factors for diabetes, and it is not yet possible for everyone to have genetic testing to determine their risk.
However, people who know that they are more likely to develop the condition can often take steps to reduce their risk.
Genetic testing can predict type 1 diabetes and distinguish between types 1 and 2 in some people.
Researchers are still working on genetic tests that can predict type 1 and type 2 diabetes.
Anyone who is interested should ask their doctor about these tests.
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Genes Ethnicity And Geography May All Play A Role
There are several risk factors that may make it more likely that youll develop type 1 diabetesif you have the genetic marker that makes you susceptible to diabetes. That genetic marker is located on chromosome 6, and its an HLA complex. Several HLA complexes have been connected to type 1 diabetes, and if you have one or more of those, you may develop type 1. actually develop type 1.)
Other risk factors for type 1 diabetes include:
Viral infections: Researchers have found that certain viruses may trigger the development of type 1 diabetes by causing the immune system to turn against the bodyinstead of helping it fight infection and sickness. Viruses that are believed to trigger type 1 include: German measles, coxsackie, and mumps.
- American Diabetes Association. Standards of Medical Care in Diabetes2009. Diabetes Care. 2009 32:S13-61.
Is Type 1 Diabetes Genetic
The short answer is yes: A family history of diabetes matters. In fact more than 40 genetic regions have been identified that are related to immune function and beta cells , Aaron Cox, Ph.D., an instructor of medicine in diabetes, endocrinology, and metabolism at Baylor College of Medicine, tells SELF. This genetic predisposition is coupled with impaired function of the immune system and whats called a precipitating eventanything that could cause beta cell stress like environmental factors 2 or even an infection. Ultimately, the immune system recognizes the bodys own proteins as foreign and proceeds to destroy the beta cells from which these foreign proteins originate.
To bring it a little closer to home, having a first-degree family member with type 1 diabetes increases your risk significantly. In fact, according to a 2013 study published in Diabetes Care, a total of 12.2% of study participants had such a relative with type 1 diabetes. Here is what the breakdown looked like: 6.2% had a father with type 1, 3.2% had a mother with type 1, and 4.8% had a sibling with type 1.3 Though, if you have an identical twin with type 1, your risk goes up to about 50%.4 Additionally, if one or both of your parents were diagnosed by age 10 then your risk will also be generally higher. Interestingly, a childs risk is twice as high if their dad has type 1 versus if their mom has it.5
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