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Influence of Genetic Factors on Endometriosis
Although the etiology theory of endometriosis has involved many aspects, such as the counter flow of meridians, metaplasia, immune deficiency, abnormal changes of genetic genes, environmental factors, etc., the relationship between endometriosis and genetics, genes and so on, is the current research hotspot.
A paper published in Human Reproduction, a famous European Journal of reproductive medicine, once reported that women with endometriosis are more than five times more likely to have sisters than normal. In addition, according to the Icelandic research team, the incidence of sisterhood in patients with endometriosis is also 50% higher than that in normal people.
The study is the first time that an incidence rate of endometriosis in the population is analyzed, which shows that the incidence rate of disease among relatives outside the nuclear family is higher.
Scientists at decode have formed a team to develop DNA based tests based on the findings, which can be diagnosed without a surgical diagnosis. In addition, the discovery will also be used in the development of new treatment methods.
Under the guidance of Professor Reynir Geirsson, director of Obstetrics and Gynecology, the National University of Iceland, the research team collected data of all 750 Icelandic women diagnosed with endometriosis surgically during 1981-1993. The kinship of these women was studied through the family database of decode.
Through several analyses of kinship, scientists at decode have shown that compared with the control group, the prevalence of women who are related to their patients is significantly higher, especially genetic factors. The personal data of the subjects were anonymous and encrypted by the Icelandic government data protection authority.
While other studies have reported a significant increase in the incidence of endometriosis among first-degree relatives, the study conducted by decode is the first in the world to show that there is also a genetic impact among church relatives.
"In most countries, it is difficult to determine whether there is a genetic impact on endometriosis between second -, third -, and fourth-degree relatives or further relatives," Stefansson said because the more reliable surgical diagnosis of the disease is invasive.
In addition, people usually don't know who their nonlineal relatives are, even if they know that they think the kinship is too far away to explain in the medical record. This also makes it more difficult for researchers in other countries to diagnose the disease.
"We found that the incidence rate of endometriosis among sisters was 5.2 times higher than normal, and the probability of the first generation of cousins was low, but it was still higher than that of the control group," explains the professor Geirsson. There is a 50% similarity in the genome between sisters and 12.5% in the genome between cousins, so it has a genetic impact on the occurrence of the disease. "
The team stressed the importance of establishing a disease association between cousins. It is found that the deviation is very small by calculating the blood relationship among patients in the general population, not just between the immediate family and the first-degree relatives.
Thus, the incidence spectrum of endometriosis was established in the general population, not only in the immediate family. From the perspective of the genetic model, genetic factors have a certain impact on the occurrence of the disease, and both paternal and maternal lines have heritability.
The study found that women with endometriosis should consider pregnancy as early as possible in their childbearing age if they intend to have a baby, as the condition will worsen over time. In addition, if a woman has many symptoms of the disease or related symptoms, she and her doctor should consider doing a laparoscopy to determine or exclude the possibility of the disease.
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