Is Endometriosis Genetic: Tracing the Roots

Nishi Kashyap
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Dr. Kaushal

Review medical content on WOW Rx Pharmacy, so that accurate drug use information is easily accessible to everybody.
Dr. Akansha is a licensed Clinical Pharmacologist. She possesses remarkable knowledge in Pharmacovigilance, prescription analysis, drug information, and drug safety services. Additionally, she is a keen learner and an educator.

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is endometriosis genetic

Endometriosis affects about 190 million females of the reproductive age globally. 

Mostly, the causes of Endometriosis remain unclear, but new factors that could increase the risk of Endometriosis keep grabbing attention. 

One such significant factor is genetics. 

Genes can impact the chances of acquiring a disease. 

To what extent this effect is observed in the case of Endometriosis remains a question.

Is Endometriosis genetic? Let’s find out through this article. 

Can Endometriosis be genetic

endometriosisSource: bunyaritklinsukhonphotos
Endometriosis concept

Genetics, in terms of any condition, including Endometriosis, refers to the genes that either cause the disease or increase the chances of acquiring it. 

Endometriosis is indeed genetic, but it is complex and demands further studies. 

A study by Shan Kang found that FGF2 754C/G polymorphism was associated with a risk of Endometriosis. 

Another one from 2018 revealed target genes within 3 chromosomes showing altered gene regulation.

FGF stands for Fibroblast Growth Factor. They regulate biological functions like survival and mitigation. Its gene polymorphism signifies the presence of two or more variant forms of genotypes.  

It includes LINC00339 and CDC42 on chromosome 1, CDKN2A-AS1 on chromosome 9, and VEZT on chromosome 12. 

This signifies that Endometriosis can be related to genetics. 

Besides, from one of the biggest studies conducted regarding Endometriosis and genetics, several revelations were made. 

The study included DNAs from 701,900 women without Endometriosis and 60,600 with it. 

Results found 42 areas of the genome that could increase the risk of getting Endometriosis. 

It further evaluated the variants with molecules present in the endometrium and blood. 

By doing so, some genes could be identified which could be causing disease development. 

Some of these genetic variants were more likely to cause only Ovarian Cystic Endometriosis. 

Ovarian Cystic Endometriosis, also called Endometriomas, are cystic lesions. They are filled with dark brown fluid, which makes them popular by the name of chocolate cysts. It is a more severe stage of Endometriosis. 

Moreover, several of these variants were common for Endometriosis and other issues related to chronic pain like migraine. 

This could raise the possibility of women with chronic pain being more likely to develop other types of pain. 

To find out more about the association of pain and Endometriosis, read Endometriosis pain

Struggling with Endometriosis hold over your daily life? 

Seek solace and relief with specialized aids from WowRxPharmacy.

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Is Endometriosis dominant or recessive

When it comes to genetics and inheritance of a disease or condition, dominant and recessive are two commonly used terms. 

Dominant inheritance occurs when an abnormal gene dominates and results in the disease. 

It requires only a single mutated (changed) gene copy; the other can be normal. 

In contrast, a recessive trait requires two copies of the disease-causing gene; just one is not enough. 

For Endometriosis, the classification is not so simple and remains unexplained. 

Based on current analysis, it is inherited by polygenic/multifactorial mode. 

This means that multiple traits and genes are responsible for Endometriosis, along with environmental effects. 

The same is explained by Dr Holdsworth-Carson, who said, “Endometriosis is a complex disease, with no single gene responsible. There is no Endometriosis gene”.

It was further explained that genetics and environmental factors like eating habits and exposure to chemicals share a 50-50 stake in the risk of Endometriosis. 

Endometriosis hereditary factor

Endometriosis also involves a risk due to hereditary factors. 

It means that Endometriosis can be passed on into families.

The risk is higher for those with a relative having Endometriosis in comparison to women with no family history of Endometriosis. 

From the early findings, the hereditary risk of Endometriosis was sevenfold with first-degree relatives. 

However, new and extensive research is needed currently to find out if the hereditary risk is higher or lower. 

Endometriosis can cause infertility, which affects 30-50 percent of women suffering from this condition. Consulting a doctor immediately after suspecting symptoms can help to minimize this risk and avoid complications in pregnancy. 

Besides, other factors can also cause Endometriosis. 

Endometriosis genetic testing

Follow doctor's instructionSource: Wavebreakmedia_from_Getty_Images
Follow doctor’s instruction

Technological advancement has made it easier to detect genetic biomarkers (DNA sequence that causes a disease). 

For Endometriosis, Next-generation Sequencing (NGS) plays a crucial role in fetching genetic information. 

It can facilitate through:

  • Comprehensive Genomic Profiling: Effectively detecting the entire genome and variants associated with Endometriosis and its specific target regions
  • Identifying Rare Variants: Endometriosis is not limited to one gene. Its complex genetic structure can be studied through NGS to understand genes and pathways related to Endometriosis
  • Transcriptomic Analysis: RNA (Ribonucleic acid) sequencing allows the discovery of potential biomarkers and profiling of gene expression levels of Endometriosis lesions
  • Epigenetic Profiling: Offers help in mapping the changes to epigenetics, i.e. modifications to the gene that affect how they work, without affecting DNA
  • Non-Invasive Diagnostics: Liquid biopsies are used to detect genetic and epigenetic changes

Another way to detect gene mutation in Endometriosis is gene mapping.

It involves linkage mapping, genome-wide association studies (GWAS), and gene studies. 

GWAS compares the genotypes of different people to determine genetic markers related to the disease. 

All these techniques can offer a better understanding of molecular mechanisms related to Endometriosis. 

So it can facilitate dealing with the problem better and come up with more effective treatment and risk mitigation. 


Endometriosis is related to genetics, which can be inherited by polygenic mode. 

Multiple genes related to it are identified, but more research is required to understand the genetic factor better. 

Endometriosis also involves hereditary risk, making women with a family history of Endometriosis more prone to the condition. 

Genetic studies, testing, and mapping through GWAS and NGS can help detect rare genetic variants and structures. 

Future research can be useful in finding more effective and precise methods to alleviate the risk and symptoms of Endometriosis. 

Frequently Asked Questions

Can Endometriosis be genetic? 

Endometriosis can be genetic. Several studies have confirmed the link between genetics and Endometriosis. However, it is a complex issue as no particular gene is responsible for the condition. It can be inherited by multifactor mode, which means through multiple genes and environmental factors. 

Can Endometriosis be hereditary? 

Endometriosis can be hereditary. Older evidence suggests that women with first-degree relatives having Endometriosis are at a seven-fold higher risk than other women. Currently, the risk can be higher or lower. New research is needed to confirm the exact chances of hereditary risk of Endometriosis. 

Will I get Endometriosis if my mom had it?

Endometriosis can be passed on in families. Since genetic factors have a 50 percent chance of leading to Endometriosis, you can also acquire it. However, it is not assured for everyone. A medical professional can help you monitor and detect the symptoms if you suspect Endometriosis. 

What percentage of Endometriosis is hereditary?

According to studies, genetics have a 50 percent influence on Endometriosis. However, not all such cases are hereditary. The exact percentage of hereditary Endometriosis is unknown. According to previous studies, the chances of having hereditary Endometriosis are 7 times compared to women with no family history of the condition. 

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