DNA strand intertwined with a vibrant butterfly, symbolizing lupus.

Decoding Lupus: Is Your Genetic Blueprint Making You Vulnerable?

Soraya Malik in Health & Wellness August 2025 • 4 min read.

"Unlocking the mysteries of Lupus: A groundbreaking study reveals a specific genetic marker that significantly increases the risk of developing this autoimmune disease in Mexican women."

Interleukin-17A (IL-17A) is a protein that stirs up inflammation. Produced mainly by specific immune cells, it triggers the creation of other inflammatory substances, which can contribute to diseases like lupus and rheumatoid arthritis. Essentially, it acts as a distress signal, calling other immune cells to action and ramping up the body's defense responses.

Lupus and rheumatoid arthritis are complex conditions where the immune system mistakenly attacks the body's own tissues. Scientists are particularly interested in the role IL-17A plays in these diseases, examining how its activity and the genes that control it might influence a person's susceptibility. Understanding these connections could pave the way for more targeted treatments.

Recent studies have highlighted that certain variations, or single nucleotide polymorphisms (SNPs), in the IL-17A gene might be linked to rheumatoid arthritis. However, these findings haven't always been consistent across different populations. This inconsistency prompted researchers to investigate whether specific IL-17A SNPs increase the risk of developing lupus or rheumatoid arthritis within a Mexican population.

The Genetic Link: Uncovering the IL-17A Haplotype

DNA strand intertwined with a vibrant butterfly, symbolizing lupus.

A new study, published in the International Journal of Rheumatic Diseases, sheds light on the genetic factors influencing susceptibility to systemic lupus erythematosus (SLE), commonly known as lupus. Researchers focused on a specific group of gene variations within the IL-17A gene, which plays a crucial role in immune responses and inflammation. The study aimed to determine if these variations, called single nucleotide polymorphisms (SNPs), could explain why some individuals are more prone to developing lupus than others.

The research team conducted a detailed analysis of 1,367 Mexican participants, including individuals diagnosed with rheumatoid arthritis (RA), those with SLE, and a control group of healthy individuals. By genotyping the IL-17A gene in these participants, scientists were able to identify a particular haplotype – a combination of specific SNPs – that was strongly associated with an increased risk of SLE.

Here's what they found:

The IL-17A -737T/C, -444A/G, -197G/A, and -121G/A SNPs were individually examined, but none showed a direct link to either lupus or rheumatoid arthritis.
However, when these SNPs were considered together as a haplotype (a specific combination of these gene variations), a significant association emerged.
The IL-17A TAGA haplotype was found to increase susceptibility to lupus, with an odds ratio of 2.43 (P = 0.004). This means that individuals carrying this specific genetic combination were more than twice as likely to develop lupus compared to those without it.
Importantly, this association was specific to lupus and was not observed in individuals with rheumatoid arthritis.

These findings suggest that while individual variations in the IL-17A gene may not significantly impact lupus risk, a specific combination of these variations can create a genetic profile that predisposes individuals to the disease. The study highlights the importance of considering gene variations in combination rather than in isolation to fully understand their impact on disease susceptibility.

Implications and Future Directions

This study provides valuable insights into the genetic underpinnings of lupus, particularly within the Mexican population. By identifying the IL-17A TAGA haplotype as a risk factor for SLE, researchers have opened new avenues for understanding disease development and potentially identifying individuals at higher risk. Further research is needed to explore the functional impact of this haplotype on IL-17A expression and immune regulation. Understanding how this genetic variation alters immune responses could lead to the development of targeted therapies aimed at preventing or managing lupus in susceptible individuals.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

Everything You Need To Know

What specific genetic factors were examined in relation to lupus susceptibility in the study, and what were the primary findings?

The study focused on the IL-17A gene and its variations, specifically single nucleotide polymorphisms (SNPs), in a Mexican population. Researchers identified the IL-17A TAGA haplotype as a significant risk factor for Systemic Lupus Erythematosus (SLE), commonly known as lupus. The study's goal was to understand genetic factors influencing susceptibility to lupus by examining how specific combinations of SNPs within the IL-17A gene could predispose individuals to the disease. While individual SNPs were examined, the key finding was the combined effect of the IL-17A TAGA haplotype, which significantly increased lupus risk.

Can you elaborate on the composition of the IL-17A TAGA haplotype and its specific impact on lupus risk?

The IL-17A TAGA haplotype identified in the study involves a specific combination of single nucleotide polymorphisms (SNPs) within the IL-17A gene. Specifically, the IL-17A -737T/C, -444A/G, -197G/A, and -121G/A SNPs, when considered together as the TAGA haplotype, showed a strong association with increased susceptibility to lupus. Individuals carrying this genetic combination are more than twice as likely to develop lupus compared to those without it. It's important to note that this association was specific to lupus and not observed in individuals with rheumatoid arthritis in this study.

What is the role of IL-17A in the immune system, and how might its function be related to the development of lupus?

IL-17A is a pro-inflammatory protein that plays a crucial role in immune responses. It acts as a distress signal, stimulating the production of other inflammatory substances and recruiting immune cells to sites of inflammation. While essential for fighting off infections, excessive or dysregulated IL-17A activity can contribute to autoimmune diseases like lupus and rheumatoid arthritis, where the immune system mistakenly attacks the body's own tissues. The study suggests that the IL-17A TAGA haplotype may influence the expression or function of IL-17A, potentially leading to increased inflammation and lupus development.

What are the potential future research directions and therapeutic implications stemming from the identification of the IL-17A TAGA haplotype as a lupus risk factor?

The discovery of the IL-17A TAGA haplotype's association with lupus in the Mexican population opens several avenues for future research. Further studies are needed to understand how this specific genetic variation affects IL-17A expression and immune regulation. This could involve investigating the haplotype's impact on the protein's production, its interaction with other immune molecules, or its influence on immune cell behavior. Understanding these mechanisms could lead to the development of targeted therapies aimed at preventing or managing lupus in individuals carrying this high-risk haplotype.

Did the study investigate other autoimmune conditions, such as rheumatoid arthritis, in addition to lupus, and were there any similar genetic associations observed?

Yes, the study specifically examined individuals diagnosed with rheumatoid arthritis (RA) alongside those with systemic lupus erythematosus (SLE) and a control group of healthy individuals. While the IL-17A TAGA haplotype was found to increase susceptibility to lupus, this association was not observed in individuals with rheumatoid arthritis. This suggests that the genetic factors influencing lupus and rheumatoid arthritis, while both autoimmune diseases, may differ, and that the IL-17A TAGA haplotype's effect is specific to lupus within the studied population.