Understanding Asthma. Genetic Predisposition And Whole Exome Sequencing.

While asthma can develop at any age, it often begins in childhood and continues into adulthood. It is characterised by inflammation and narrowing of the airways, leading to difficulty in breathing, coughing, wheezing, and chest tightness. Asthma is a chronic respiratory condition that affects millions of people worldwide.

In this blog, we will dig into the basics of asthma, explore whether it affects males or females more, and discuss how advancements in DNA testing, particularly whole exome sequencing, are shedding light on the genetic predisposition to asthma.

Genetic Predisposition To Disease Risk

What is Asthma?

Asthma is a multifactorial condition caused by a combination of genetic and environmental factors. People with asthma have airways that are sensitive to various triggers, such as allergens, respiratory infections, exercise, and irritants like smoke. When exposed to these triggers, the airways become inflamed and constricted, making it challenging for air to pass through.


Gender Disparities in Asthma

Research indicates that asthma prevalence and severity can vary between genders. Historically, asthma has been more common in boys than girls during childhood. However, as they reach adolescence, the gap tends to close, and adult women are more likely to be diagnosed with asthma than adult men.

This gender shift is not yet fully understood, but it suggests that hormonal factors may play a role in asthma development.

Asthma can also differ in presentation between males and females. Boys tend to exhibit more prominent asthma symptoms during childhood, while girls might experience higher rates of adult-onset asthma.

Additionally, females with asthma may face unique challenges related to hormonal fluctuations, such as during pregnancy or menopause.

Genetic Mutations

Genetics and Asthma Predisposition

Genetics plays a significant role in determining an individual's susceptibility to asthma. Numerous genes have been associated with asthma risk, including those involved in immune responses, inflammation regulation, and airway function.

If a person carries certain variants of these genes, they may have an increased likelihood of developing asthma when exposed to specific triggers.

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Whole Exome Sequencing and Asthma

Whole exome sequencing is a powerful genetic testing technique that examines the exome, which comprises all the protein-coding regions of an individual's DNA. By analyzing a person's entire exome, researchers can identify rare and common genetic variants associated with various diseases, including asthma.

Studies have shown that whole exome sequencing can be a valuable tool in identifying genetic predisposition to asthma.

By pinpointing specific genetic variants linked to asthma risk, healthcare professionals can assess an individual's likelihood of developing the condition and potentially implement preventive measures or personalised treatment plans.

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Asthma is a complex respiratory condition influenced by both genetic and environmental factors. While it has historically affected boys more during childhood, the prevalence shifts in adulthood, with women being more susceptible.

Understanding the genetic basis of asthma through whole exome sequencing offers exciting possibilities for personalised medicine and early intervention strategies.

By applying the power of genetic information, researchers and healthcare providers are advancing their knowledge of asthma's underlying mechanisms.

However, it's essential to recognise that genetics is only one piece of the puzzle, and environmental factors continue to play a crucial role in asthma development and management.

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  1. Asthma and Allergy Foundation of America. (2021). Asthma Facts and Figures. https://www.aafa.org/asthma-facts/

  2. Bouzigon, E., Corda, E., Aschard, H., Dizier, M. H., Boland, A., Bousquet, J., Chateigner, N., Gormand, F., Just, J., Le Moual, N., Scheinmann, P., Siroux, V., Vervloet, D., Zelenika, D., Pin, I., Kauffmann, F., & Lathrop, M. (2013). Effect of 17q21 Variants and Smoking Exposure in Early-Onset Asthma. New England Journal of Medicine, 368(23), 2284–2293.

  3. Madore, A. M., Vaillancourt, V. T., Asai, Y., Alroqi, F., Aui, P. M., Hamid, Q., & Rahman, S. (2019). Sex Bias in Asthma Prevalence and Pathogenesis. Frontiers in Immunology, 10, 1–13.

  4. The Human Genome Project. (n.d.). Whole Exome Sequencing. https://www.genome.gov/genetics-glossary/Whole-Exome-Sequencing

* Please note that at Parkside Designs Art we are not doctors or scientists. The information in this blog is informative only. We accept no liability in any form for the information provided.

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