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Immune Disorders

Genetic Basis of Autoimmune Diseases - An Overview

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Autoimmune diseases commonly occur in many individuals. The genetic basis of the disorders is described in this article. Read below to know more.

Written byDr. Lalam Yadhidhya Rani

Medically reviewed byDr. Mohamad Ali Rida

Published At September 14, 2023
Reviewed AtSeptember 14, 2023

Introduction:

As there is a lack of clear diagnostic tools and difficulty in the diagnosis of autoimmune disorders, the patients are in search of a perfect diagnosis so that appropriate treatment can be received. The clinical picture of the disease appears as an independent issue or set of many traits which are prompted by the environment throughout life. Autoimmune disorders are the top leading disorders causing death.

Human autoimmune disorders affect approximately 10 % of the population. Most of them occur due to interactions between environmental and polygenic risk factors. Studies recognized the risk influenced by genes on autoimmune diseases, and knowing the in-depth variations along with the functional effects is a challenge. This article explains the role of genetics in autoimmune disease pathogenesis as well as its treatment.

What Are the Approaches for Identifying Genes Causing Autoimmune Diseases?

Various factors to evaluate the new genes have been identified to understand certain conceptual issues in gene mapping. Approaches to identify the gene variations in autoimmune disorders are:

  • Candidate Gene Association Studies: Genetic variation associated with certain diseases within limited genes.

  • GWA (Genome-Wide Association) Studies: A study that is done to identify several genetic variants by testing the alleles.

  • Linkage Analysis in Multiplex Families: Combined study of genes in a family to predict the future occurrence of diseases, and disease-causing genes through the generations.

What Are the Approaches to Determining the Significance of Genetic Variation?

Interrogation of the function of several genetic variants can be done by a systematic approach.

This approach will need identification of the causing SNP (single nucleotide polymorphs - common genetic variations), which can be done with the help of Bayesian approaches along with tools like chromatin mapping and SNP editing, which allow testing the genetic variants found in the individuals to reveal the specific pathways for each disease.

Bayesian Approach:

The association of different diseases through a single gene was revealed through this approach. Identifying the variants causing the disease with genetic evidence is also possible through this. This can be done based on this is association strength and the structure of the haplotype (set of variants in a single chromosome).

The era of genome-wide association studies:

Common variations in the genes leading to autoimmune disorders have not been clearly identified.

These studies are case-control studies that detect the variations resulting in the risk of common diseases due to mutations. Identifying the genetic variation is the basis of the study. Genome-wide association scans the entire genome and disease-associated regions. This lead to identifying the positive pathway of the disease and the mechanism through which genes affect the biology of the disease.

What Are Monogenic Immune Dysregulation Syndromes?

  • Biological pathways which are necessary for maintaining the balance in immunity were understood because of rare autoimmune disease syndromes. Syndromes caused due to variations in a single gene are called monogenic and due to multiple genes are called polygenic syndromes. Although monogenic immune syndromes are less prevalent than polygenic syndromes, they have been identified and studied.

  • Type 1 diabetes and Graves disease are linked with genetic variations in the gene CTLA4 which is the prime cause of autoimmune diseases.

  • The common risk associated with the allele on the gene was investigated in T-cells. Responsiveness to the investigation altered the T-cells, which alters their signaling threshold.

  • Together the findings were consistent throughout the investigation of the gene CTLA4 which causes increased autoimmune diseases risk and immune dysregulation.

What Are Map Genes?

  • Gene mapping is a process where certain genes for the disease condition are identified. In the case of autoimmune disease the importance of knowing the specific gene is necessary to diagnose and plan the treatment. Not all immune diseases can be mapped due to variations in the disorders. The standard reason for gene mapping is to identify the gene and generate a pathogenesis and disease mechanism.

  • Also, the main aim of gene mapping is to identify casual SNPS rather than multiple linked SNPs.

  • Most of the variants associated with autoimmune disorders are non-coding types.

What Is the Influence of Disease Variations on Cellular Phenotype?

  • Many studies revealed patterns of genes linked with autoimmune disorders but the functional mechanism behind the disease, which contributes to increased risk. Phenotypes and genotypes are closely related, and studies are challenging to reveal the functional consequences of any gene variant. Genetic engineering in certain animals and human cells has shown the light on genetic variations.

  • Genome editing in human cell types, which is associated with certain diseases, is helpful in understanding the mechanism of autoimmune disorders.

What Are the Genetic Associations With Autoimmunity?

We are in a generation of immense data piling up on the underlying genetic causes of autoimmune diseases. It was already known that few variations in genes lead to various autoimmune diseases, which provide a confirmation that many diseases share a common pathway despite their differentiation in clinical conditions.

There is also a hypothesis that not all autoimmune diseases share a common pathogenesis pathway.

Such a variety of conclusions lead to an entirely unexpected point which serves as the highest source of a completely new hypothesis.

  • PTNP22 gene is associated with the regulation of multiple immune signals risk.

  • CD6 is associated with the genetic modulation of isoforms of immune receptors.

  • TNFRSF1A/ NF gene modulates the inflammatory pathway mediated by genes.

  • IL-2 receptor is associated with complex effects on the regulation of immunity.

Conclusion:

Studies on certain immune disaggregation syndrome have understood immune tolerance mechanisms. Over the past decade, genomic technology has been developed to analyze complex autoimmune diseases. Phenotype analysis of cells is an approach to understanding the mechanism of certain diseases. Integrative analysis of genomic annotation and other extensive works have revealed the link with genetic variations that alter the normal cell function pathways leading to autoimmune disorders. Understanding the disease genetics can be advanced through functional studies along with genetic analysis. Clinical applications of genetics in autoimmune diseases have raised hopes because of the improved technology. Determination of the pathogenic pathway from the perspective of genetics will help in the future discovery of the drug which helps in treating human autoimmune diseases

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Frequently Asked Questions

Autoimmune disorders may impact any region of the body. They occur when the immune system unintentionally attacks healthy cells and tissues, causing inflammation and damage. This can appear in various ways depending on the specific autoimmune disease and the organs or systems it attacks.

There is a wide variety of potential causes for autoimmune illnesses, including hormonal fluctuations, chronic stress, infections, exposure to certain chemicals, and genetic susceptibility. These triggers can interfere with the immune system's normal function, which might result in autoimmune reactions directed against the body's tissues.

Autoimmune disorders may arise or exacerbate as a result of stress. Prolonged stress can disrupt the balance of the immune system, resulting in increased inflammation and the potential to trigger autoimmune reactions. Although stress may not be the primary cause of autoimmune illnesses, it can play a major role in their development or progression.

The diagnosis of autoimmune diseases usually involves a combination of laboratory testing, physical examination, and a review of medical history. In addition to imaging investigations or biopsies to evaluate tissue damage, blood tests are often used to identify specific antibodies or indicators of inflammation. Depending on the suspected autoimmune disorder, diagnosis may also need consultation with experts like dermatologists, endocrinologists, or rheumatologists.

Specialized testing is available to identify autoimmune illnesses. These tests sometimes require analyzing blood samples to check for antibodies or other indicators of immune system activity linked to specific autoimmune disorders. In addition, depending on the suspected autoimmune illness and its symptoms, additional methods of diagnosis including imaging investigations or biopsies could be used.

There is no known cure for autoimmune illnesses; however, medications that suppress the immune system and reduce inflammation can often successfully manage their symptoms. These treatments might involve dietary and lifestyle adjustments in addition to drugs such as corticosteroids, immunosuppressants, or biologic therapy. Future research attempts to provide more specialized treatments and maybe even find a cure for autoimmune illnesses.

Autoimmune diseases can be treated in many ways, such as with immunosuppressive drugs, biological treatments, and corticosteroids, which inhibit immune system function. Additionally, autoimmune disease sufferers' general well-being can be enhanced, and their symptoms can be managed with lifestyle changes, including stress reduction, consistent exercise, and a balanced diet.

The symptoms of autoimmune diseases, which include pain, inflammation, exhaustion, and decreased mobility, can seriously interfere with day-to-day activities. Regular medical checkups, therapies, and drug administration may also be necessary for specific illnesses, which may have an impact on social activities, employment, and general quality of life. Managing the difficulties caused by autoimmune disorders may need dietary, lifestyle, and exercise modifications.

Modifying one's lifestyle can be very important for the management of autoimmune diseases. A well-balanced diet that includes foods high in anti-inflammatory compounds, frequent exercise to boost immunity and general health, stress management through mindfulness or relaxation techniques, and getting enough sleep are a few examples. Additionally, symptom management may be aided by avoiding recognized triggers or aggravating circumstances specific to the patient's illness.

Food has an impact on autoimmune disorders. While certain foods have anti-inflammatory qualities and boost immune system function, others may cause inflammation or worsen symptoms. Nutritionally rich, whole foods can be added to one's diet to increase nutritional density and help manage autoimmune disorders. Other dietary alterations include reducing the consumption of processed foods, sweets, and probable allergens.

Individuals with autoimmune disorders may look into alternative remedies to control their symptoms. Acupuncture, chiropractic adjustments, herbal remedies, mind-body practices like yoga or meditation, and nutritional supplements are some examples. Although these methods can provide comfort or enhance the well-being of certain individuals, it is crucial to get advice from medical specialists and employ them in addition to traditional therapies.

Inflammation is essential to the body's immunological response in autoimmune disorders. It happens when healthy tissues are unintentionally attacked by the immune system, causing tissue damage and persistent inflammation. Inflammation has the potential to worsen autoimmune disease symptoms and accelerate their development.

The prevalence of autoimmune conditions can be influenced by certain demographic characteristics, including age, gender, and ethnicity. For example, autoimmune diseases are more common in women than men, and some illnesses like multiple sclerosis and lupus disproportionately impact particular racial or ethnic groups. Even though they can manifest at any age, autoimmune illnesses usually first appear in middle age or young adulthood.

Autoimmune disorders can occasionally have remissions during which symptoms decrease or disappear altogether. Remission might happen on its own or be the outcome of successful treatment plans that reduce inflammation and inhibit immune system function. It is important to remember that remissions are not always permanent and that symptoms might suddenly flare up or return.

The onset and course of autoimmune disorders can be influenced by age. Certain autoimmune diseases, such as lupus and rheumatoid arthritis, commonly appear in middle age or early adulthood. Furthermore, elderly patients may respond differently to various medications and may be more vulnerable to certain problems, necessitating specific treatment strategies.

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Dr. Mohamad Ali Rida from iCliniq
Dr. Mohamad Ali Rida

Rheumatology

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