An international group of researchers, including scientists at the Queensland Institute of Medical Research, have conduct the biggest genome-wide association study (GWAS) to date and have recognized two genetic variants that are connected with the gynaecological disease, endometriosis. The finding should lead to better diagnostic and predictive tests and will steer prospect research into the disease and its treatment. Two regions on the genome were found to be connected to the disease, which influence between 6 and 10 per cent of all women of reproductive age.
The region with the strongest link to the disease was on chromosome 7 in a area that may regulate nearby genes which have already been linked with endometriosis. This genetic variant appear to be considerably associated with risk of endometriosis particularly in women of European ancestry. The study also provided more proof that a previously discovered genetic variant on chromosome 1 is also linked with the disease. This SNP lies close to a gene that is relevant to the growth of the uterus and ovaries, suggesting a fundamental mechanism for the disease.
The study concerned 5586 women with endometriosis and 9331 controls (both men and women) in Australia and the United Kingdom. The researchers propose that there are likely to be more genetic variants linked with endometriosis and they recommend that further studies should be conduct, particularly on individuals with established moderate to severe cases of the disease to better recognize the relevant genes and pathways.
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The region with the strongest link to the disease was on chromosome 7 in a area that may regulate nearby genes which have already been linked with endometriosis. This genetic variant appear to be considerably associated with risk of endometriosis particularly in women of European ancestry. The study also provided more proof that a previously discovered genetic variant on chromosome 1 is also linked with the disease. This SNP lies close to a gene that is relevant to the growth of the uterus and ovaries, suggesting a fundamental mechanism for the disease.
The study concerned 5586 women with endometriosis and 9331 controls (both men and women) in Australia and the United Kingdom. The researchers propose that there are likely to be more genetic variants linked with endometriosis and they recommend that further studies should be conduct, particularly on individuals with established moderate to severe cases of the disease to better recognize the relevant genes and pathways.
useful links : transport rankings
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