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Is Endometriosis Hereditary?

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Story at-a-glance -

  • Researchers concluded that it’s possible for a woman to have endometriosis if she has relatives who are also struggling with the condition
  • According to a study, there are chromosome variants that may predispose a woman to be affected with endometriosis
  • A separate study also discovered multiple loci (or the specific place a chromosome can be found in a gene) that may be connected to the development of endometriosis

Genes are considered one of the many possible risk factors of endometriosis.1 According to various studies, it’s highly likely that a woman with endometriosis can have relatives who are also struggling with the condition.2,3

While the definitive link between endometriosis and genetics has not yet been determined, some studies have suggested that genetics may play a big role in determining a woman’s risk for this condition.

Chromosome Variants Can Influence Endometriosis Risk

This genome-wide association (GWA) study, published in the journal Nature Genetics in 2011, was conducted on women from Australia, the U.K. and the U.S. in two batches.4 According to researchers, the genetic variants that they checked resulted in a 34% risk for moderate to severe endometriosis and in a 15% risk for milder endometriosis.5

What’s notable, however, is the discovery of variants located on chromosome 7 (rs12700667 and rs7798431) that were more prevalent among women with endometriosis. In an NHS article, it was stated that the presence of these variants were linked to a higher risk of being diagnosed with endometriosis.6

In another study published in the same journal a year earlier, Japanese researchers concluded that a woman’s endometriosis risk may be influenced by another variant (rs10965235) found in chromosome 9p21. As the authors highlighted:7

“A SNP, rs16826658, in the LD block including WNT4 on chromosome 1p36, which is considered to play an important role in the development of the female genital tract, revealed a possible association with endometriosis (P = 1.66 × 10−6, odds ratio = 1.20). Our findings suggest that these regions are new susceptibility loci for endometriosis.”

Other Genes Linked to Endometriosis

A 2018 Best Practice & Research Clinical Obstetrics & Gynaecology study highlighted that genes located in chromosome 1 (LINC00339 and CDC42), chromosome 9 (CDKN2A-AS1) and chromosome 12 (VEZT) may be linked to endometriosis. According to the study authors, genes that can affect a woman’s endometriosis risk tend to be “located in regulatory DNA sequences and alter the regulation of gene transcription.”8

Meanwhile, researchers who spearheaded a bioRxiv study published in the same year revealed that apart from the initial seven loci (location of a particular chromosome on a gene9) previously linked to endometriosis, there are seven additional loci that may be implicated in raising a woman’s risk for this condition.10


Endometriosis: Introduction

What Is Endometriosis?

Endometriosis Symptoms

Endometriosis Causes

Is Endometriosis Hereditary?

Endometriosis Stages

Endometriosis Treatment

Endometriosis in Pregnancy

Endometriosis vs Adenomyosis

Endometriosis Prevention

Endometriosis Diet

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