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Genes associated with polycystic ovary syndrome, study reports

Polycystic ovary syndrome (PCOS) is a widespread reproductive syndrome. It includes many health-related conditions. It also has an influence on several metabolic processes.

PCOS is described by hyperandrogenism, polycystic ovaries, and anovulation. It increases the risk of type 2 diabetes, obesity, insulin resistance (IR), and cardiovascular disease.  The scientists recognized three new sites in the genome. These sites seem to be linked to polycystic ovary syndrome (PCOS). This research was published in the journal PLOS Genetics.

Irregular periods with weight gain, or just irregular periods and infertility,” said Corrine Welt. He is an M.D at the University of Utah Health and senior author on the study. “These outcomes drive home the opinion that irrespective of symptoms for detecting PCOS the genetic foundations are just similar.”

Observations of the study

The scientists discovered the genetic basis of PCOS by conducting a study on whole genome association. It was conducted on the genomes of more than 10,000 women with PCOS and 100,000 controls from seven types of research which included participants of European ancestry.

Data was composed of clinically proved cases from North American and Europe as well as from opt-in study participants, that was provided by 23andMe. In the research, the scientists divided the PCOS patients into three groups on the basis of diagnosis;

  • Researchers analyzed the patients via the National Institutes of Health criteria (high testosterone and irregular menstrual cycles; 2,540 cases and 15,020 controls) constitute around 70 percent of PCOS cases.
  • Patients diagnosed via the Rotterdam conditions (high egg production; 2,669 cases and 17,035 controls) comprise up to 20 percent of PCOS cases.
  • The researchers also observed self-identified PCOS cases (5,184 cases and 82,759 controls).

They recognized 14 gene variants. Hence, these variants were related to PCOS, including three which were known for the first time. Just one of the 14 genetic variants varied knowingly in its association by diagnostic conditions.

Gene association

The researchers then observed the associations of the 14 gene variants with definite PCOS related traits in three other studies with a combined total of more than 10,000 PCOS patients.

They found four variants related to high testosterone, eight variants associated with high egg production. And nine variants linked to infertility, with three variants associated with all the three traits.

“Patients generally go from doctor to doctor before diagnosis. It is because medical specialists may not be aware of PCOS. And providers from dermatology to obstetrics and gynecology to endocrinology may diagnose this disorder differently,” Welt said. “As a community, we turned to genetics to recognize the cause of this disorder.”

Also, the genetic underpinnings of PCOS involve metabolic, neuroendocrine and reproductive pathways. A follow-up investigation found that the genetic pathways observed in this research are also associated with other conditions.

Also, these conditions included metabolic disorders like menopause, obesity, type 2 diabetes, and depression. Furthermore, the scientists found, for the first time that there are some associations to male pattern baldness.

“The associations between PCOS and mental health propose the importance of a holistic approach. In this approach the social and psychosocial extents of the disease are considered,” said Felix Day. He is a Ph.D., a senior research associate at the University of Cambridge, England, and author on the study.

“The next stages are to further illustrate the causes of this disorder which affects many women worldwide”. Welt found the research may over-represent the most severe characteristics of PCOS, which is more commonly detected by medical specialists. As such, the outcomes may be partial toward the variants which impart these characters.

Also, complete genome association studies find regions of notice along the genome but do not isolate the underlying gene.

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