Polygenic score
Influential genes: CDC42
Dysregulation of CDC42 activity may play a role in the development and progression of endometriosis.
Endometriosis is a condition in which matter that resembles endometrial tissue (that lines the inner wall of the uterus) grows outside of its normal place. This abnormal tissue can grow and bleed as the uterus lining does during a normal menstrual cycle, which leads to irritation and inflammation. Eventually, this can cause scar tissue formation, called adhesions, which can cause organs to stick together. It is a chronic disease that can affect women of all ages, although it predominantly affects those in their reproductive years. The causes behind the disease are not fully understood, but it is believed to be related to the backflow of menstrual blood into the abdominal cavity via the fallopian tubes. Symptoms include, beyond others, menstrual pain and pain after sexual intercourse, chronic lower abdominal and back pain as well as fatigue, and sometimes even infertility.
Treatment is individually based but can include:
Endometriosis is a disease that can be asymptomatic for many years. Therefore the precise assessment of its prevalence is complex.
It is believed that between 2 to 10 percent of reproductive-age women are suffering from this condition.[1]
The age of its onset is usually between 20-40 years. It is believed that many factors contribute to the development of the disease.
Some of the risk factors associated with the condition include:
Endometriosis is a complex, multifactorial disease (many factors participate in its development). The combined effects of the environment, genetics, and epigenetics are considered important as all of them are interacting with each other. Family and twin studies suggest a higher genetic risk among close relatives. There are many genetic variants that each have a small effect, however, if present together, they increase the risk of endometriosis. [2,3]
Identification of associated gene variants is crucial for a more personalized treatment approach. However, the discovery of causative genetic factors remains a challenge. [4]
No single gene has been linked to the disease yet, but Genome Wide Association Study (GWAS) research suggests, e.g. TP53, CYP1A, HOXA10, p27, or IL-16 genes may be involved in the development of endometriosis. Some research groups have also concluded that the potential candidate genes might be located on chromosomes 7, 10 and 20. [2]
As mentioned before, endometriosis is a multifactorial disease, and no causative gene has been identified. Here, in Macromo, polygenic risk scores (PRS) are used to determine the genetic risk. The PRS is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors. Variants across their genome are summed and weighted according to their effect on the disease or trait. [5]
Endometriosis may be asymptomatic in many women (up to ⅓ of patients) and is often discovered incidentally during surgery in the area. Affected women in their reproductive years usually present with the following symptoms:
Less commonly, symptoms include bowel and bladder dysfunction (presenting with diarrhea, constipation, cramping, pain) and chronic fatigue. All the above symptoms could occur alone or in combination, and an increased number of symptoms has been associated with an increased likelihood of endometriosis. Furthermore, infertility is often associated with the disease.
Endometriosis is diagnosed according to the patient’s clinical presentation and imaging methods. The diagnosis is best confirmed by laparoscopy (a minimally invasive surgical procedure in which a camera and instrument are inserted into the abdominal cavity for a visual examination). A transvaginal ultrasound may be performed to look into the structures surrounding the uterus. A small tissue sample is then extracted and examined under a microscope. While this confirms the definitive diagnosis, the combination of the symptoms, signs, and imagining can lead to a sufficient presumptive and nonsurgical diagnosis of endometriosis.
The treatment of endometriosis encompasses mainly two different approaches: medical therapy and surgical therapy.
Unfortunately, today, there is no known way to prevent endometriosis. Building awareness of the disease and its symptoms leads to an early diagnosis and management, which can slow down the progression of the disease and its symptoms.
Overall the prognosis of endometriosis is good, and most women live a normal life. Women can suffer from acute and chronic complications decreasing their quality of life but, in most cases, not affecting their life expectancy. In ⅓ of the cases, the disease spontaneously resolves, but treatment is usually indicated to relieve symptoms, as well as to stop its progression and recurrence after initial treatment.
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