23andMe worked with scientists at the University of Cambridge (and ten other institutions) to learn more about PCOS. What they discovered could potentially lead to new avenues of treatment for the women who have it. Women who have PCOS tend to have difficulty getting pregnant.
PCOS is an abbreviation for Polycystic Ovary Syndrome. It can also be called Stein-Leventhal Syndrome. PCOS is one of the most common hormonal endocrine disorders. Early diagnosis is important because the disease has been linked to an increased risk in developing several medical conditions including insulin resistance, type 2 diabetes, high cholesterol, high blood pressure, and heart disease.
About 5-10% of women of childbearing age are affected by PCOS (with less than 50% of women diagnosed). PCOS is responsible for 70% of infertility issues in women who have difficulty ovulating. It is also possible for post menopausal women to suffer from PCOS. Some studies have found that if a woman has PCOS, there is a 50% chance that her daughter will also have PCOS.
A study was done by researchers who used genetic information from more than 5,000 women of European ancestry who were customers of 23andMe. These women reported having PCOS and consented to the research. In addition, the study also included another 82,000 women who did not have PCOS. These women were also customers of 23andMe and also consented to the research.
This study was followed up by another study (so researchers could validate the findings of the first study). The second study involved 2,000 other women whose PCOS had been clinically validated. It also included another 100,000 women who did not have PCOS. Those women were studied by deCODE, which is an Icelandic company, and by researchers at the Erasmus Medical Center in the Netherlands, and at the Center for Human Genetic Research at Massachusetts General Hospital in Boston, USA.
The researchers found that the risk of PCOS increased because of genetic variants that were also associated with higher body mass index and insulin resistance. The researchers suggest that therapies that help lower body mass index and insulin resistance might help women who have PCOS.
New genetic variants that are related to PCOS have been discovered. These newly discovered genetic variants implicate three of four epidermal growth factor receptor genes. Those same genes are targets of some modern cancer therapies. This suggests that perhaps there could be new avenues of research into future treatments for PCOS.
One of the newly discovered genetic variants is in the FSHB gene. That gene encodes the “follicle stimulating hormone”. Low levels of that hormone might contribute to PCOS. In short, the researchers did not find a cure for Polycystic Ovary Syndrome. Instead, they discovered new information that could one day lead to new and more effective treatments for PCOS.
Image by Hey Paul Studios on Flickr.
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