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Aurora magazine

Endometriosis: new genetic causes founded

An Australian study has identified new genetic causes of endometriosis. The researchers confirmed 9 previously identified genomic regions and added 5 more to the list. The DNA sections found have a unique genetic code that explains many of the disease related issues.

Anomalies in the regions of the genome identified are related to a greater risk of endometriosis. Discovery is therefore the first step in identifying pathogenic genes. In the future, it may lead to the development of new genetic screening tests, useful for rapid and accurate diagnosis.

The researchers examined DNA samples of 17,045 Australian women with endometriosis. They compared them with 191,858 samples taken from a control group, made up of healthy women. The analysis did not reveal the causes of endometriosis, but they clarified some of the genetic causes. This will facilitate the understanding of the biology of the disease and its causes.

It is estimated that approximately 10% of Australian women suffer from endometriosis. The disease causes debilitating pain during the cycle and infertility. Often the diagnosis is difficult and this makes it more difficult to proceed with the appropriate treatments.