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Ulcerative Colitis, Genetic Testing

Ulcerative colitis is a chronic inflammatory bowel disease that mainly affects the large intestine and rectum, leading to symptoms such as abdominal pain, diarrhea, and rectal bleeding. Treatment aims to control inflammation and manage symptoms, often with medications and, in some cases, surgery. The Polygenic Risk Score for ulcerative colitis is based on the examination of 5 gene polymorphisms.

Genetic testing for ulcerative colitis is included along with 14 other diseases in the Genetic Screening for Gastrointestinal Diseases, Polygenic Risk Score, as well as in the Genetic Screening for Immune Diseases, Polygenic Risk Score, along with 12 other diseases.

Causes and non-genetic risk factors

The specific cause of ulcerative colitis is not known, although the following non-genetic factors appear to be involved to varying degrees in its development:

  • Age and gender. Although it can appear at any age, it occurs preferentially bimodally in women between 15-30 years and 50-70 years.
  • A higher incidence has been described in northern Western European and American Jewish populations, but it can affect all age groups equally.
  • There seems to be an autoimmune dysregulation of food or bacterial antigens. However, it is unknown if this influences the development of the disorder or the appearance of the manifestations.
  • Alterations in the intestinal microbiota composition, atmospheric pollution, medications, and specific diets have been postulated to contribute.

Symptoms depend on the anatomical location and the severity of the inflammation. In general, it is characterized by:

  • Ulcers in the mucosa of the colon and/or rectum
  • Rectal bleeding
  • Diarrhea and abdominal pain

This symptomatology may accompany abdominal cramps, fatigue, nausea, weight loss, and anemia.

With time and progression of the disease, other symptoms may also appear, including extraintestinal manifestations:

  • Fever
  • Skin rashes and mouth sores
  • Joint pain and arthritis
  • Red and painful eyes
  • Liver disease
  • Loss of fluids and nutrients

In addition, there may be an increased risk of colon cancer.


Ulcerative colitis cannot be prevented; however, different measures can help prevent the onset of flare-ups and limit their severity.

  • Reduce stress levels, as stress can delay gastric emptying and increase acid. To this end, it is recommended that you sleep at least seven hours and do regular exercise, even light exercise such as walking, yoga, or meditation.
  • Diet can be crucial in controlling symptoms and prolonging the time between flare-ups. Some foods can worsen symptoms and should be avoided, especially during flare-ups. These vary between individuals but are generally fatty foods, high sugar, carbonated beverages, high fiber, coffee, chocolate, or alcoholic beverages. Sometimes, salt and dairy products can be problematic. It is necessary to eat more frequently and in smaller quantities. Soft and bland foods may cause less discomfort if the ailment is severe. Patients should also be sure to drink plenty of fluids, especially water. A daily multivitamin supplement may be helpful, as colitis interferes with the proper absorption of nutrients. Patients should consult a nutritionist or dietitian if dietary restrictions become challenging.
  • It is recommended to avoid taking medications that your physician has not prescribed and to follow possible recommendations derived from treatments for both ulcerative colitis and other concurrent conditions.
Additional information
Results Time4 - 5 Weeks
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