Amy Matarozzo
University of New Hampshire


Endometriosis is becoming one of the most common reproductive diseases for women in their young adult life worldwide. Research has suggested that many of the causes for the rise in rates of endometriosis are directly related to the environment. The focus of this personal genomics study is to learn more about certain SNPs and alleles that maybe be correlated to increase the disease risk of endometriosis. The study was conducted by using online resources such as the GWAS catalog, HapMap, 1000 genomes database, and Ensembl. In addition to online database resources, primary articles of research were also used to gain more evidence on the genes associated to the disease risk of endometriosis. Currently there are over 60 different genes and SNPs being tested for their correlation to the disease risk of endometriosis. For this personal genomics study of correlated disease risk, the focus of the research was primarily on the genes WNT4, CHD5, CDKN2BAS1, and ESR1.


  • Endometriosis is a painful inflammatory condition characterized by the growth of extra endometrial tissue in the lower abdominal area. The extra tissue that grows in the abdominal area is found on the outside of the reproductive organs such as the fallopian tubes, ovaries, uterus and bowel.

  • Endometriosis is influenced by a women’s natural menstrual cycle and the hormones that regulate the cycle. The blood in the endometrial tissue can build up causing irritation and begins to develop scar tissue. The process in which ovarian cysts are formed has also shown to cause the additional growth of endometrial tissue (Grant, et al, 2008)

  • Endometriosis has become a very common disease worldwide, affecting up to 10 percent of women in peak reproductive age (Nouri, et. al, 2010). Severe cases of endometriosis can cause infertility and impair quality of life for women due to severe pain.

  • Women suffering from endometriosis can experience a wide variety of other health complications such as bowl irregularity due to bowel endometriosis, painful ovulation, painful intercourse and ovarian cysts (Vigano, et al., 2015).

  • The tissue growth characterized by endometriosis can also grow in other parts of the lower abdomen such as around the bowel and intestine (Grant, et al, 2008). As a result, patients suffering from this disease can experience pain in various places in the lower abdomen.

  • Currently the only way to accurately diagnose this disease for sure is through a laparoscopic surgery (Grant, et al, 2008).

  • Many doctors will avoid doing the laparoscopic surgery for as long as possible and treat the symptoms of endometriosis by prescribing continual birth control (Vigano, et al., 2015). The endometrial tissue growths can be removed through laparoscopic surgery to improve the symptoms. However, over time the endometrial tissue growths can grow back (Vigano, et al., 2015).

  • There are many different hypotheses being tested for the causes of endometriosis such as environmental factors and influences, excessive exposure to estrogen internally, and certain allele combinations on SNPs (Vigano, et al., 2015).

  • There is currently a lot of research that suggests that estrogen levels in the body can influence the disease risk of endometriosis considerably (Bulun, SE., 2002).

  • The field of personal genomics is important to the research of endometriosis because certain allele combinations of SNP variants can either increase or decrease an individual’s disease risk for endometriosis.

  • Some of the current genes that are being studied in regards to endometriosis with available data are CHD5, WNT4, CDKN2BAS1 and ESR1 (Rahmioglu, N., et al. 2015).




Broader Impacts

Works Cited