Genetic variants that up gynecological disease risk found
December 13th, 2010 - 2:19 pm ICT by ANILondon, Dec 13 (ANI): Scientists have identified two genetic variants that increase the risk of developing endometriosis-a common gynaecological disease.
Endometriosis is a common gynaecological disease affecting an estimated 6 to 10 per cent of all women in their reproductive years.
Researchers from the International Endogene Consortium compared the genomes of over 5,500 women surgically diagnosed with the disease from the UK, Australia and the US, and compared them with almost 10,000 healthy volunteers.
They identified two new genetic variants that increase the risk of developing the disease, particularly moderate-severe stages.
“We’ve known for some time that endometriosis is heritable, but until now we have been unable to find any robust genetic variants that influence a woman’s risk of developing the disease,” said Krina Zondervan, of the University of Oxford.
The first is a variant on chromosome 7 believed to be involved in regulating nearby genes, probably those involved in the development of the womb and its lining.
The second variant was found on chromosome 1, close to the gene WNT4. This is important for hormone metabolism and the development of the female reproductive tract, especially the ovaries, making it an important biological candidate for involvement in endometriosis.
The findings were published in the journal Nature Genetics. (ANI)
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Tags: australia, chromosome 1, chromosome 7, consortium, disease risk, endometriosis, female reproductive tract, genes, genetic variants, genomes, gynaecological, hormone metabolism, journal nature genetics, london, ovaries, scientists, university of oxford, volunteers, womb, zondervan