Defining Endometriosis Physiologic Subphenotypes and Subsequent Cancer and Comorbidities Risk Through Discovery of Novel Genetic Variants
Abstract
Background: This proposed research project targets FY20 PRMRP Topic Area of Endometriosis. Endometriosis is a chronic disease affecting 1 in 10 women from the time between their first period until menopause, when periods stop. In endometriosis, cells similar to the lining that covers the walls of the uterus (womb) grow outside of the uterus. These patches of cells, called “lesions,” are found growing in other places of the body such as on the ovaries, bowel, or bladder. This causes a lot of inflammation (the body’s response to tissue damage and injury through release of immune cells and chemicals known as cytokines), which can make symptoms worse. Some of the common symptoms include severe pelvic pain (occurring between the hip bones) or lower abdominal pain (occurring just below the stomach), intense menstrual cramps (pain when having a period), and infertility (not being able to get pregnant). The only way to know for sure if a woman has endometriosis is for her to have a surgery to look for the lesions. Unfortunately, it often takes a very long time for women to get the right diagnosis; the average time between a woman’s first symptoms and being told by a doctor that she has endometriosis is 7 years. The disease itself and the difficulties in getting a diagnosis or finding the appropriate treatment can result in worsening chronic pain, poor mental health including depression and anxiety, and may put women at higher risk for other diseases later in life like heart disease and some cancers. The result is high healthcare costs and loss of productivity. Endometriosis affects about 6% of the female U.S. Army population and causes about 200,000 days of lost duty time each year. Adolescents who have endometriosis are at much greater risk of having uncontrolled symptoms during their prime years for enlisting in the military. Women who are in the active military may be suffering from symptoms that get worse over time. Endometriosis is the most common reproductive health diagnosis among female Veterans and family members along with menstrual problems such as heavy menstrual bleeding. Female Veterans with endometriosis may be at higher risk of developing other health problems later in life. That some women develop endometriosis and some do not has led to thinking that this may be due to genetic differences between people. Genes are made of DNA and make up the instruction blocks for molecules that make up the body. Small studies in twins and in families, and larger genetic studies, have provided strong evidence that genes make some women more likely to develop endometriosis. Similar to cancers, such as breast cancers, that have different genetic types leading to individual decisions about their diagnosis and long-term treatment, endometriosis may appear differently among women because of their genes. Unlike cancer, no genetic studies have looked at the variations in genes that may account for these different types of endometriosis. Problem to Be Addressed: Despite the large number of women affected by endometriosis, a lot of information about the disease remains unknown including the cause. The lesions found outside the uterus can look different from one woman to another in terms of where they are growing, how many there are, what color they are, and if they have blood vessels or nerves or scar tissue around them. Strangely, these differences are not related to what types of symptoms women have, how severe those symptoms are, or how likely the symptoms are to respond to various treatments. Even with all of these obvious differences in the lesions and symptoms among women with endometriosis, almost all medical care and research studies group all women with endometriosis together – treating the disease as though it is the same for all women. The difficulty is that we know there are differences, but we also do not know what pieces are connected. This process of grouping types of a disease together for science and for personalized
Document Details
- Document Type
- DoD Grant Award
- Publication Date
- Dec 05, 2021
- Source ID
- W81XWH2110744
Entities
People
- Stacey Missmer
Organizations
- Michigan State University
- United States Army