Genes are considered to be one of the many possible risk factors of endometriosis.1 According to the Endometriosis Foundation of America (EFA), a woman who has a relative with endometriosis is five to seven times more likely to be affected with the condition.2
Unfortunately, the definitive link between endometriosis and genetics has not yet been determined at this point. Nevertheless, different studies have already shown that genetic factors may play a role in a woman’s risk for endometriosis.
Specific Chromosome Variants Identified in Newer Study Out of the US, UK and Australia
This genome-wide association (GWA) study, published in 2010, is one of the most recent studies conducted that studied the possible link between endometriosis and genetics.
This was done by a team of researchers from the Queensland Institute of Medicinal Research in Australia, the University of Oxford in England and other academic and medical institutions from these two countries and the U.S. The results were then published in Nature Genetics, a peer-reviewed medical journal.3
A total of 3,194 women who had surgically confirmed endometriosis were recruited from Australia and the U.K. and separated into two groups depending on the severity of their condition.4
Those who had less severe endometriosis were placed in Group A, while those with a more severe form of the disease were assigned to Group B. The DNA sequences of women in both groups were compared to 7,060 other women who didn’t have endometriosis.
After this initial procedure, a second experiment was done, this time on 2,392 women who had endometriosis, with 40 percent having severe cases, and 2,271 controls from the U.S.5
Genetic differences between the two groups of women with endometriosis and the control group were noticeable in the result of the first experiment. These were more apparent in women with moderate to severe endometriosis.6
Out of all the genetic variants assessed, 34 percent of these contributed to the risk of moderate to severe endometriosis, while 15 percent increased the risk of less severe endometriosis.7 An example was a variant on chromosome 7 called rs12700667 that was more prevalent among women with severe endometriosis.8
Women who had this chromosome variant were 1.2 times more likely to have endometriosis and 1.4 times more likely to have severe endometriosis compared to women who didn’t have the condition. Two other chromosome 7 variants, rs7798431 and rs1250248, were also shown to be more common in women with severe endometriosis.9
The results from the second wave of studies involving women from the U.S. also proved that variants rs1270067 and rs7798431 were linked to severe endometriosis, but not the variant rs1250248.10
While these links between variants of chromosome 7 and endometriosis may seem accurate, this doesn’t mean that a woman will automatically develop this condition. It’s more likely that a combination of genetic and environmental factors will increase endometriosis risk for some women. After all, endometriosis is still a complex condition and is only partially explained by genetics.11
The researchers also noted that the genetic variants mentioned in the study do not lie within a particular gene and may not even increase a woman’s endometriosis risk by itself. These variants may just be situated near other variations that show this effect. More research is needed to really confirm if genetics really does have an effect on your endometriosis risk.12