Polygenic score
Influential genes: FLG-AS1,SH2B3, Interleukins
Mutations in the FLG-AS1 gene encoding filaggrin are associated with atopic dermatitis and also in conditions such as asthma and allergic rhinitis.
Variants in the SH2B3 gene have been associated with various immune-related disorders, including allergies.
Interleukins (ILs) play crucial roles in immune regulation, including the development and modulation of allergic responses.
Allergies occur when the immune system reacts to some allergens, producing antibodies and causing inflammation. These are commonly grass and tree pollen, dust mites, food (particularly nuts, fruit, and shellfish), insect bites and stings, medicines (including ibuprofen, aspirin, and certain antibiotics), latex, mold, and household chemicals, but here are many other known allergens
There are several ways in which allergies can present: a runny nose, itchy red skin, swollen face and lips, difficulties breathing, and even anaphylaxis (a life-threatening condition due to a massive overreaction of the body in response to an allergen). The diagnosis is based on medical history and a physical examination. A skin prick test should be performed to identify the specific allergens. There are several treatment options available nowadays, but avoiding the triggers remains the best way to prevent symptoms from arising.
Around 150 million EU citizens suffer from chronic allergic diseases. Approximately half of them are underdiagnosed and poorly managed. It is estimated that by 2025 50% of Europeans will suffer from at least one type of allergy.
Allergic diseases are complex genetic diseases resulting from the effect of multiple genetic and environmental factors. Genetic factors are the most important and family history greatly increases the risk for allergy development.
Other risk factors include sex (males are affected more often) and age (much higher susceptibility to allergic sensitization in early life).
Whether the exposure to allergens early in life is considered a protective or risk factor is still subject of scientific debate. Passive smoking, pollution, and certain infections on the other hand have been associated with an increased risk of developing allergies (especially respiratory viral infections are associated with bronchial asthma and onset of sensitization).
Allergy is a hypersensitive inflammatory immune response to environmental antigens (substances which induce an immune response). The development of allergies is still not fully understood, but both environmental and genetic components are considered as important factors. [1]
Studies focused on the relation of allergies and family history observed a higher risk of developing asthma, atopic dermatitis (AD) or allergic rhinitis (AR) when one or both parents are affected.
Despite technological and methodological progress, family history is still one of the most reliable tools for establishing the prognosis. However, Genome Wide Association Studies (GWAS) are being widely used in research on allergies. [2]
The previously used method for mapping genes associated with allergic diseases was linkage analysis, which was used between 1980–1990. Nowadays, association studies of candidate genes are being used instead. They identify genetic variants associated with the disease/trait by scanning the genomes of many people, searching for variants that occur more in affected individuals compared to the healthy controls.
Associated genes include those involved in barrier function (e.g. FLG), cytokines, and other inflammatory genes (e.g. IL13), genes involved in T-cell differentiation and function (e.g. HLA genes). Specifically, genes DPP10, CD14, or IL4 are connected to asthma, genes COL6A5, FLG, TLR9 are connected to AD and genes FLG, S100A7, HDC are associated with AR. [1]
Allergies are a very complex group of diseases and the research is ongoing. Due to this, we use Polygenic Risk Score (PRS) to determine the genetic risk. The PRS is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. [3]
Allergies can present themselves with many symptoms including itchy body parts (mouth, nose, skin), a runny nose, swelling of the affected area, cough, and in the worst cases it can develop into a life threatening condition known as anaphylaxis. Most allergic conditions start in childhood and often don’t persist into adulthood. You can be allergic to various things like dust mites, pollen, cat or dog fur, food (especially peanuts), drugs (for example penicillin), different plants, etc.
Anaphylaxis is a life-threatening condition that needs to be managed swiftly, otherwise, a closure of the airways and circulatory collapse could have fatal consequences.
Medical history, physical examination and a skin prick test are the basic steps in identifying allergies. The doctor or nurse will prick the patient’s skin and expose it to different allergens. If they are allergic, they will develop a visible reaction - a small bump (hives). A blood test can also be performed and it will show increased levels of IgE antibodies.
There are several treatment options available. Avoiding the triggers is the best way to prevent the development of symptoms. Other symptomatic treatments can include antihistamines, topical therapies for atopic dermatitis, nasal decongestants for allergic rhinitis, and bronchodilators for asthma. Oral immunotherapy is a new option used for severe allergies that are resistant to symptomatic treatments and is meant to desensitize the individual to certain allergies.
Anaphylaxis has to be managed quickly by calling an ambulance and using an EpiPen (adrenalin intramuscular injection). People with known severe allergic reactions often carry EpiPens with them.
The prevention of symptoms is mostly based on avoiding triggers and taking the prescribed medications. Breastfeeding or using hypoallergenic formulas can prevent allergy development in newborns. The results of studies on whether allergens should be withheld from babies or not are still inconclusive.
Many children outgrow allergies over time (especially food and medications allergies) but some can persist into adulthood and influence the person’s quality of life. Around 2% of anaphylactic reactions can be fatal. If you suffer from any allergy, let your healthcare provider know so they can advise you on the best possible management and possible adverse drug reactions that can be prevented.
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