Illustration of a woman looking at a fragmented DNA strand, symbolizing hope for genetic research in autoimmune diseases.

Decoding Lupus: How Genetic Clues Could Change Everything for Women's Health

Lena Kashyap in Health & Wellness December 2025 • 5 min read.

"Groundbreaking research reveals new insights into the genetic factors behind lupus, offering hope for earlier detection and personalized treatment."

Lupus, a chronic autoimmune disease, primarily affects women, often disrupting their lives with a range of debilitating symptoms. While the exact causes of lupus remain complex, new research offers a promising path toward understanding the disease's genetic roots. A recent study has shed light on how variations in our genes, specifically copy number variations (CNVs), play a role in susceptibility to lupus. This breakthrough could lead to more accurate diagnostic tools and tailored treatments, ultimately transforming how we manage this challenging condition.

The study's focus on CNVs, which are alterations in the number of copies of specific DNA segments, provides a fresh perspective on the genetic factors influencing lupus. By examining these variations, scientists have gained valuable insights into the specific genes and pathways involved in the disease's development. This knowledge is critical for developing effective strategies to combat lupus and improve the quality of life for those affected.

This article delves into the study's key findings, exploring the connection between CNVs and lupus risk. We'll uncover how these genetic variations interact and contribute to the disease's onset. We'll also discuss the potential impact of these discoveries on future diagnostic approaches and treatment options, offering a glimpse into a future where managing lupus is more precise and effective.

Unraveling the Genetic Puzzle: The Role of Copy Number Variations in Lupus

Illustration of a woman looking at a fragmented DNA strand, symbolizing hope for genetic research in autoimmune diseases.

The research team analyzed the genomes of lupus patients and healthy individuals to identify CNVs. Their study revealed a synergistic effect between genes, with specific deletions in the FCGR3B and ADAM3A genes significantly increasing the risk of developing lupus. This means that the presence of these deletions together poses a greater threat than either deletion alone, highlighting the complex interplay of genetic factors in the disease.

The study's findings extend beyond the identification of risk genes. Researchers have also discovered that duplications in these same genes are more common in healthy individuals, suggesting that having more copies of these genes may provide protection against lupus. This is a critical insight, as it opens avenues for developing therapies that can mimic these protective effects.

FCGR3B and ADAM3A Genes: Deletions in these genes were strongly linked to an increased risk of lupus.
Synergistic Effect: The combination of deletions in both genes amplified the risk.
Protective Duplications: Duplications of these genes were more common in healthy individuals.

The study also identified rare CNVs in lupus patients. These unique genetic variations further illuminate the diversity of genetic factors associated with the disease. The discovery of these rare CNVs provides more clues to the overall puzzle of lupus, helping scientists understand the condition more completely.

A Brighter Future for Lupus Patients

This research represents a significant stride in understanding the genetic underpinnings of lupus. By focusing on CNVs, scientists have discovered new connections between specific genes and the disease, opening up the potential for more targeted and effective treatments. This is particularly encouraging news for women, who are disproportionately affected by lupus. As we continue to unravel the complexities of this disease, we move closer to a future where lupus can be detected earlier, managed more effectively, and ultimately, overcome. The journey toward better health and well-being for those living with lupus is now marked with a renewed sense of optimism and purpose.

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.

This article is based on research published under:

DOI-LINK: 10.1371/journal.pone.0206683, Alternate LINK

Title: Copy Number Variation In The Susceptibility To Systemic Lupus Erythematosus

Subject: Multidisciplinary

Journal: PLOS ONE

Publisher: Public Library of Science (PLoS)

Authors: Fernanda Bueno Barbosa, Milena Simioni, Cláudia Emília Vieira Wiezel, Fábio Rossi Torres, Miriam Coelho Molck, Melvin M. Bonilla, Tânia Kawasaki De Araujo, Eduardo Antônio Donadi, Vera Lúcia Gil-Da-Silva-Lopes, Bernardo Lemos, Aguinaldo Luiz Simões

Published: 2018-11-28

Everything You Need To Know

What are copy number variations (CNVs) and how do they relate to lupus?

Copy number variations (CNVs) are alterations in the number of copies of specific DNA segments. Research indicates that CNVs play a role in determining susceptibility to lupus. Specifically, the study found that deletions in certain genes like FCGR3B and ADAM3A increased the risk of developing lupus, while duplications in those same genes were more common in healthy individuals, potentially offering protection against the disease. Identifying and understanding CNVs offers insights for the development of more effective diagnostic tools and therapies for managing lupus.

How do deletions in the FCGR3B and ADAM3A genes affect the risk of developing lupus, and what is the synergistic effect?

Deletions in the FCGR3B and ADAM3A genes are strongly linked to an increased risk of developing lupus. The study revealed a synergistic effect, meaning that the combination of deletions in both the FCGR3B and ADAM3A genes amplifies the risk of lupus more than either deletion would on its own. This synergistic effect highlights the complex interplay of genetic factors in the disease and suggests that therapies may need to address multiple genetic variations to be effective.

Can having more copies of certain genes protect against lupus, according to recent research?

Yes, the research indicates that duplications of the FCGR3B and ADAM3A genes are more common in healthy individuals, suggesting that having more copies of these genes may provide protection against lupus. This insight opens possibilities for developing therapies that mimic these protective effects, such as gene therapies or drugs that promote similar biological pathways.

Besides FCGR3B and ADAM3A, are there other genes or genetic variations identified in lupus patients that could provide more clues about the condition?

Yes, the study also identified rare copy number variations (CNVs) in lupus patients, beyond just the FCGR3B and ADAM3A genes. These unique genetic variations add to the diversity of genetic factors associated with lupus, providing more clues to understanding the condition more completely. Further investigation into these rare CNVs could reveal additional therapeutic targets or diagnostic markers.

What are the potential implications of this research on copy number variations (CNVs) for the future of lupus treatment and diagnostics, especially for women?

This research on copy number variations (CNVs) has significant implications for the future of lupus treatment and diagnostics, particularly for women, who are disproportionately affected by the disease. The identification of specific genes and their variations (like FCGR3B and ADAM3A) opens up opportunities for developing more targeted and effective treatments, such as gene therapies or personalized medicine approaches based on an individual's genetic profile. Early detection through genetic screening could also become a reality, allowing for earlier intervention and management of the disease, ultimately improving the quality of life for those living with lupus. This understanding of CNVs can also pave the way for the development of drugs that mimic the protective effects observed in individuals with duplications of certain genes.