Endometriosis is a disease of the reproductive system that occurs when tissue similar to the lining of the uterus grows outside the uterus, causing chronic pain and other symptoms. Millions of people are affected worldwide, and while the exact cause isn’t fully understood, genetics does appear to play a role.
Studies show that endometriosis often runs in families, suggesting a hereditary component.
That said, genetics is only part of the picture. Environmental factors and lifestyle may also contribute to the condition’s development. That said, knowing your family history can help you and your healthcare provider make more informed decisions about monitoring symptoms and treatment options.
Endometriosis and Your Genes 101
While the exact cause of endometriosis remains unclear, research suggests that genetics can play a role.
If you have a close female relative, like a mother or sister, with endometriosis, your risk is higher. Experts like Dr. Jeannette Lager highlight that family history is a factor, but it’s not the only one. Hormones and the immune system function also contribute to the condition’s development.
Having a genetic predisposition also doesn’t guarantee you’ll develop endometriosis. Other factors, including lifestyle choices like diet and exercise, can influence your risk.
If you’re concerned about genetic risk factors, discussing them with your doctor could be a good start. A provider can assess your personal risk factors and work with you towards a diagnosis.
How Genetics Impact Your Risk of Endometriosis
Genetics play a significant but complex role in the risk of developing endometriosis. Although specific genes haven’t been pinpointed, research shows the condition often runs in families, indicating the hereditary component.
Studies highlight that having a first-degree relative, such as a mother or sister, with endometriosis increases your risk substantially. In fact, you’re estimated to be seven times more likely to develop endometriosis if a close female relative has it. This strong family link points to genetic factors influencing the condition.
Certain gene variations involved in hormone regulation, inflammation, and tissue growth may be inherited and raise susceptibility to endometriosis.
Twin studies further support a genetic basis: identical twins, who share all their DNA, have a much higher chance of both having endometriosis compared to fraternal twins or siblings. If one identical twin has the condition, the other has about a 50% chance of also having it.
Which Genes Are Linked to Endometriosis?
Scientists are continuously investigating the key genes involved in endometriosis. While no single “endometriosis gene” has been identified, genome-wide association studies (GWAS) have highlighted several genetic regions that may increase risk.
GWAS compares the genomes of large groups of women with and without endometriosis, searching for genetic variations more common in those affected. So far, over 30 genetic locations have been linked to the condition.
Many of these genetic variants influence processes known to be disrupted in endometriosis, including:
- Hormone regulation: Some genes affect estrogen signaling, which promotes the growth of endometrial tissue.
- Inflammation: Certain genetic factors influence how the immune system manages inflammation.
- Tissue growth: Variants can alter how tissue develops and repairs itself, contributing to abnormal growth outside the uterus.
While these findings provide important clues, more research is needed to understand exactly how these genetic factors drive endometriosis at a molecular level.
How Is Endometriosis Inherited?
Endometriosis doesn’t follow a straightforward inheritance pattern like some single-gene disorders. Instead, it involves multiple genetic and environmental factors—a concept called multifactorial inheritance.
In this model, many genes each contribute a small effect to your overall risk. The combined influence of these gene variations can significantly increase the likelihood of developing endometriosis. At the same time, environmental and lifestyle factors interact with genetic predispositions, further affecting risk.
Because of this complexity, predicting who will develop endometriosis based on family history alone is difficult.
It’s also useful to differentiate between genetic and hereditary risk factors:
- Genetic risk refers to specific gene variations passed on from your biological parents.
- Hereditary risk includes genetic factors, but also takes into account other things shared in families—like similar habits, environments, and lifestyles—that can affect your health.
Having a family history of endometriosis points to a hereditary risk. This suggests underlying genetic components but may also reflect shared environmental or lifestyle factors within families.
Non-Genetic Factors That Play a Role
Genetics influence your risk of endometriosis, but they’re only part of the picture. Hormones, the immune system, and environmental factors also affect whether someone with a genetic predisposition develops the condition.
Estrogen levels
- Endometriosis depends on estrogen.
- Factors that raise estrogen, such as early menstruation or hormone therapy, can encourage growth of endometrial tissue outside the uterus.
- Activities that lower estrogen, like regular exercise and maintaining a healthy weight, may reduce risk.
- Environmental toxins called endocrine disruptors can interfere with hormone balance and have been linked to endometriosis. Common endocrine disruptors include plastic products, parabens, and pesticides.
Immune system function
- Normally, the immune system clears misplaced endometrial tissue.
- Genetic variations can impair immune function, allowing tissue to persist and cause symptoms.
Epigenetic changes
- These are changes in gene activity after birth, without altering the baseline DNA sequence.
- Environmental exposures and lifestyle factors can trigger epigenetic modifications, switching genes on or off in ways that may affect disease development.
Because genetics and environment interact in complex ways, managing endometriosis effectively requires a comprehensive approach. While you can’t change your genes, you can adjust lifestyle and environmental factors to support your health:
- Talk with your healthcare provider about your risk factors.
- Develop a personalized plan that addresses your specific needs and lifestyle.
The Genetics of Endometriosis and How It Affects You
The question of whether endometriosis is genetic is a complex one, but the evidence suggests that genetics do play a significant role in the development of this condition.
While there's no single "endometriosis gene," studies have identified numerous genetic variations that increase risk. Environmental and lifestyle factors also influence whether genetically susceptible individuals develop endometriosis.
If you’re affected by endometriosis, understanding the genetic component can be empowering. It can guide proactive screening, inform your reproductive planning, and provide you with a guide for personalized treatment and prevention strategies.
For anyone with a family history of endometriosis or concerns about genetic risk, don't hesitate to start a conversation with your healthcare provider. They can help you assess your individual risk factors, guide genetic testing if appropriate, and develop a personalized management plan.
For more reliable information and support tailored to your needs, explore Roon’s resources and learn from specialists who understand endometriosis from every angle. You deserve health information you can trust. Join Roon and connect with vetted experts, not internet opinions.
Frequently Asked Questions (FAQ):
Is endometriosis genetic or hereditary?
Endometriosis has a hereditary component. Research shows that women with a family history of the condition are more likely to develop it themselves. Genetics contribute to risk but don’t tell the whole story.
Will I get endometriosis if my mom had it?
Having a mother with endometriosis raises your risk, but it doesn’t guarantee you will develop the condition. Genetic factors increase susceptibility, but environmental and lifestyle influences also matter.
What is the number one cause of endometriosis?
There isn’t a single known cause. Endometriosis likely results from a combination of genetic predisposition, immune system differences, and environmental factors.
Are you born with endometriosis or can you develop it?
Endometriosis is not present at birth, but you could have a genetic or biological predisposition to develop it. It tends to develop during reproductive years, influenced by hormonal changes and genetic susceptibility.
