Table of ContentsView AllTable of ContentsGenes Involved in LupusPrevalence in FamiliesPrevalence in Black People and Other Ethnic GroupsPrediction and Prevention
Table of ContentsView All
View All
Table of Contents
Genes Involved in Lupus
Prevalence in Families
Prevalence in Black People and Other Ethnic Groups
Prediction and Prevention
Scientists studying the genetics ofsystemic lupus erythematosus(SLE) have learned a tremendous amount about this disease, who gets it, and why. Still, much remains to be learned. Among the questions researchers are trying to answer are:
Verywell / Dennis Madamba
What Is Lupus?Lupus is anautoimmune diseasein which your immune system attacks healthy organs in your body as if they were an infectious agent (e.g., a virus or bacterium). Symptoms can include inflammation, joint pain, severe fatigue, and a butterfly-shaped rash across the nose and cheeks.SLE is not the only type of lupus, but it’s usually what’s meant when people refer to lupus.
What Is Lupus?
Lupus is anautoimmune diseasein which your immune system attacks healthy organs in your body as if they were an infectious agent (e.g., a virus or bacterium). Symptoms can include inflammation, joint pain, severe fatigue, and a butterfly-shaped rash across the nose and cheeks.SLE is not the only type of lupus, but it’s usually what’s meant when people refer to lupus.
The answers to these questions are likely to be complicated and involve many elements, including not only your genes but also hormones (especially estrogen) and environmental factors.While all these things are believed to be involved in the development of lupus, experts don’t yet understand their relationships or exactly what role each plays.
The genetic picture oflupusisn’t yet complete, but scientists have identified dozens of genes that they believe influence the risk of developing SLE.In particular, studies have shown that a class of genes called major histocompatibility complex (MHC) genes have an association with lupus. MHC genes’ functions include:
Several other genes that work with MHC genes and the immune response are also implicated in lupus. They give instructions to cells for producing proteins that deal with:
Some of the proteins associated with these genes are implicated in numerous autoimmune and inflammatory conditions and may be tested for as indicators of these diseases, including:
How the Immune System Works
Monogenic Lupus
A group of proteins called complement proteins have an important clean-up job after your immune system launches an attack. The deficiency means this clean-up isn’t done properly, which leaves behind networks of molecules that can damage your tissues.Complement proteins may also help in the production of cytokines.
Causes and Risk Factors of Lupus
Epigenetics
While genetic mutations appear to play an important role in the development of SLE, researchers believe they don’t tell the whole story. In part, that belief is based on findings in identical twins. When one twin has the disease, the chance the other will also have it ranges from 25 to 57%.If it were truly genetic, that percentage would be higher.
Because 43 to 75% of identical twins don’t develop lupus when their twin does, it is likely that another type of genetic influence—which occurs after birth—is at play here.This genetic influence is called epigenetics.
Research suggests that several epigenetic mechanisms are at work in lupus, including:
Types of Lupus
Lupus nephritis isn’t a type of lupus. Rather, it’s a complication of SLE that involves kidney disease.
Lupus does have a tendency to run in families. The evidence for that used to be largely anecdotal, but researchers have discovered some inherited tendencies, although without a clear pattern. According to the Lupus Foundation of America:
However, lupus isn’t generally inherited directly. Most of the time, people inherit agenetic predisposition—a mutation or set of mutations that increases their risk of developing SLE.
Not everyone with those genetic traits will end up with lupus, though.It likely takes the influence of certain environmental and hormonal conditions, possibly through epigenetic changes, to trigger the illness itself.
Can You Catch Lupus From Another Person?
Groups with a higher rate of lupus than the general population include:
Particularly in Black, Asian, and Latinx people, a serious complication of SLE calledlupus nephritisis especially common and believed to be due to genetic differences unique to these groups. Lupus nephritis involves kidney damage and inflammation, and it can lead tokidney failure.
In addition, Black people tend to develop SLE at an earlier age and have more neurological symptoms.
In one study, Asians, Pacific Islanders, and Latinx participants were more likely to develop a serious lupus-related condition calledantiphospholipid syndrome, which increases blood clotting and can lead tomiscarriage, organ damage, and death.
While genes do seem to play a role in this, it’s also possible that environmental factors—such as higher poverty levels and lack of access to health care—contribute to the higher rates and more severe disease.Research into ethnic disparities is ongoing.
Since the early 2000s, thanks to the sequencing of thehuman genome, lupus research has been going at breakneck speed and researchers have learned a great deal, which has already led to better treatment strategies for different subtypes of the disease.
However, researchers have not yet been able to identify consistent enough genetic or epigenetic changes to unravel the remaining mysteries of lupus.Once they do, experts believe they’ll be able to predict:
Once doctors can predict who is likely to get lupus, they may be able to take steps to delay or even prevent it entirely. In people who do develop it, a more targeted treatment plan could keep the disease from progressing, which could protect people from experiencing the disability, decline in quality of life, andfatal complicationscurrently associated with SLE and lupus nephritis.
A Word From Verywell
Lupus research has come a long way thanks to advances in genetics research, but medical science still has a long way to go in understanding this complex and highly variable condition. Still, people who have lupus now are considerably better off than those who had it a generation ago, and the next generation is likely to fare better still.
If lupus runs in your family and you’re concerned about it turning up in you or someone you care about, you may be able to find comfort in the knowledge that the outlook is constantly improving for people who are living with SLE.
Lupus Support Groups
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Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
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