Lupus and Epigenetics


Considered life’s blueprint, the study of genetics refers to the genes that each person is born with that are inherited from their mother and father. To give you a little perspective, each cell in the human body contains about 25,000 to 35,000 genes.   Those genes carry information that detail traits ranging from whether you are born as a redhead with freckles, or a brunette with green eyes.  Genes are found in tiny spaghetti-like structurescalled chromosomes inside your cells.  These cells are so small, they are only visible with a extremely strong microscope, however, your body is made up of billions of them!  Each person should have 23 pairs of chromosomes (a total of 46), that determine everything from your sex to other physical characteristics.  

Genes and chromosomes are made up of DNA (deoxyribonucleic acid).  Your DNA is responsible for making proteins that are the building blocks for everything in your body (muscle, bones, blood…to name a few).  These proteins help the body to function properly and, in most cases, stay healthy.  

When genes change over time, it is classified as a mutation.  Scientists have been able to identify and label certain genetic and chromosomal mutation defects that cause specific disorders and health problems. Abnormalities can be as minute as a single mutation in one gene, or can involve the entire addition or subtraction of chromosomes. Cystic fibrosis, sickle cell anemia, achondroplasia and Down syndrome are a few examples of genetic disorders.  Sadly, Scientists believe that gene mutations contribute to causing cancer and other devastating diseases. Even the lupus overlap disease, antiphospholipid syndrome has been identified as a genetic disorder.


Epigenetics refers to the study of how external changes can change the physical structure and expression of the DNA without altering the DNA sequence itself.  Scientists have discovered that genes work in combination with a living organism’s direct environment and that environment may influence behavior and development overtime.  This is what many textbooks describe as the theory of nature versus nurture.  That concept deals in part, with the idea that particular aspects of behavior and health are influenced by nature (genetic predisposition/inheritance/sex hormones/other biological factors) or nurture (external factors, products of exposure).  In a nutshell, epigenetics sheds light on how the environmental, nutritional and social conditions we are exposed to affect how our genes are expressed.  This, my friends, can determine the mind-blowing question of, “Do you have lupus because you were born with the genetic predisposition to develop it, or do you have lupus are because you were exposed to something in your environment that caused it to come out? Or is it both?”

You may be wondering, why is this so important to know? And why am I talking the time to write an entire blog on this subject? Frankly, I find it extremely interesting to know that our environment (the things we breathe, the toxins we are exposed to, the climate where you and I live) are all factors that can affect the expression of our DNA proteins.  And as stated above, those proteins are responsible for keeping you and me healthy (or not).  if you and I have a genetic predisposition to lupus what does that mean if we are exposed to virus, toxin or other environmental trigger?  Are we doomed to develop lupus?

How does it affect someone with a predisposition to lupus?

Although there has not been a “lupus gene” discovered, many doctors believe that lupus individuals are predisposed to getting lupus because of family history.  That is why the study of epigenetics is so important, because most doctors believe that with autoimmune illnesses, some environmental factor has to interact with with the genetic predisposition for the disease to become active.  

So am I saying that anyone born with a genetic predisposition will develop lupus? Thankfully, no!  As Dr. Thomas States in The Lupus Encyclopedia, “Most people who are born with the genes that can cause lupus never develop the disease.” People may inherit a variation of a gene that increases or decreases the risk of developing lupus, but do not inherit the condition itself.  So yes, even with a genetic predisposition or family history, you may NEVER develop the disease.

It has been discovered that a variety of environmental factors are thought to play a role in the triggering of SLE. Some of these factors include:

Environmental Influences on our DNA:

  • Viral Infections (Epstein Barr Virus, herpes, CMV, parvovirus)
  • Toxin Exposure (cigarette, smog, agent orange)
  • Ultraviolet Light Exposure (UVB and UVA-2)
  • Pesticides
  • Silica Exposure
  • Phthalates Exposure
  • Certain foods and supplements (alfalfa and mung bean sprouts, echinacea).

Avoiding the above environmental factors may, theoretically help decrease the risk of developing lupus even if you are predisposed.  However, it can seem quite impossible.  So what can you do to be proactive with your health and environment exposure?

  • Avoid tanning booths, and wear sunscreen
  • Do not smoke
  • Check your Vitamin D levels
  • Eat a diet rich in omega-3 fatty acids and olive oil
  • Avoid processed foods
  • Avoid too many products with phthalates (certain plastics)
  • Avoid echinacea, sulfa antibiotics and alfalfa sprouts

Unlocking the connection between lupus and epigenetics…unlocking a cure?

By decoding our DNA, we are able to start to unlock the mystery of how SLE occurs.  And by doing so, understand what environmental agents contribute to lupus disease activity.  By understanding epigenetics and the development of SLE, the likelihood of developing new therapeutic agents and treatments that target the affected genes is promising.  

If you are interested in learning more about lupus and genetic testing, click here:


The Lupus Encyclopedia, Johns Hopkins University Press, Published 2014, p. 42-43

 Author:  Kelli Roseta

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