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Is Endometriosis Genetic?

by | Posted on April 20, 2021

Is endo Genetic

Endometriosis is a debilitating disease that affects approximately 10% of women of reproductive age [1]. Although the exact cause of the disease is not clear, there may be genetic factors that predispose some women to develop the disease. Researchers believe that interactions between multiple different genes and the environment may determine the development of endometriosis [2].

Endometriosis is more common among patients’ relatives

Studies have shown that the risk of developing endometriosis is higher in women who have a close relative who also has the condition.

Older studies have shown that women with a first-degree relative who has endometriosis have a 7-fold risk of having endometriosis themselves.[3] A more recent study published in the American Journal of Obstetrics and Gynecology demonstrated that approximately 7% of first-degree relatives (mothers and sisters) of patients with endometriosis are also affected by the disease [4].

Another study analyzed the prevalence of endometriosis among the relatives of 101 patients and compared them to the relatives of those without endometriosis. The results showed that the incidence of endometriosis was higher in the first-, second-, and third-degree relatives, including the mothers, sisters, aunts, and cousins of the patients [5].

A cohort study also found a higher incidence of endometriosis in the first-degree relatives of patients with endometriosis compared to those without the disease [6].

Multiple genes may play a role

A 2019 review, which included several studies that focused on the identification of genetic variations related to endometriosis, has listed about 30 genes associated with the disease [7].

These genes are involved in important functions such as DNA repair, immunity, inflammation, hormonal function, cell proliferation, cell differentiation, cell death, and detoxification.

However, no single gene seems to be solely linked to the disease. There may be cases where a mutation is present in a certain gene but no manifestation of endometriosis, or cases where the disease is present but there is no genetic mutation.

Therefore, experts suggest that a combination of genetic and environmental factors act together for the development of endometriosis.

Environmental factors

Environmental factors may influence cell function by affecting the genome through epigenetic modifications [8]. Epigenetic modifications are stable alterations in how a gene is expressed i.e. makes a protein, with no underlying modifications in the gene sequence itself. Studies have shown variations in the epigenetic patterns of genes that play a role in the hormonal, immunologic, and inflammatory status of cells in endometriosis [9,10]. 

A recent study showed that dietary exposure to dioxin is associated with an increased incidence of endometriosis [11]. Dioxin is a toxic chemical byproduct found in places where uncontrolled burning and recycling of fuels and electronics occurs. Researchers think that dioxin could lead to epigenetic alterations in the DNA and increase the risk of endometriosis.

There are many areas of research yet to be undertaken in the field of endometriosis and its genetic associations. Studies that have been done to date have shown that genetics certainly plays a role, but many more questions need to be answered. 


  1. What Is Endometriosis?,
  2. Genetic, Epigenetic, and Steroidogenic Modulation Mechanisms in Endometriosis, Journal of Clinical Medicine.
  3. Endometriosis. IV. Hereditary tendency, Obstetrics & Gynecology
  4. Heritable aspects of endometriosis, American Journal of Obstetrics and Gynecology
  5. Familial Risk Among Patients with Endometriosis, Journal of Assisted Reproduction and Genetics volume
  6. Family incidence of endometriosis in first-, second-, and third-degree relatives: a case-control study, Reproductive Biology, and Endocrinology
  7. Defining the genetic profile of endometriosis, Experimental and Therapeutic Medicine
  8. Epigenetics of endometriosis, Molecular Human Reproduction
  9. DNA methylation in endometriosis, Molecular Medicine Reports
  10. Recent insights on the genetics and epigenetics of endometriosis, Clinical Genetics
  11. Important environmental contaminant dioxin has links to the pathogenesis of endometriosis,

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