An international team of scientists have identified new genetic variants that may help in the diagnosis and treatment of endometriosis.
Scientists from Queensland Institute of Medical Research (Australia) and Oxford University (UK), along with colleagues from other institutions across Australia, the US and UK carried out a large genome-wide association study (GWAS).
The team enrolled 5,500 women with endometriosis from Australia, the US and UK, and divided them into two groups depending on the severity of their condition, and then compared their genomes with 10,000 healthy women. The researchers identified three genetic alterations, two on chromosome 7 (rs12700667 and rs7798431) and one on chromosome 2 (rs1250248). Further analysis showed that the gene variants occurred in both patient groups, but their prevalence was higher in the group with more severe cases.
Dr Krina Zondervan, Oxford University and lead author, said: 'Our study is a breakthrough because it provides the first strong evidence that variations in DNA make some women more likely to develop endometriosis, we now need to understand the effect of these variations on cells and molecules in the body'.
Endometriosis is a common gynaecological disease associated with pelvic pain and may also affect fertility. The condition occurs when cells typically found inside the womb grow outside the uterine cavity. The exact causes are unclear, but genetic factors are thought to play a role. The disease affects about two million women in the UK.
The study was funded by the Wellcome Trust, the National Health and Medical Research Council of Australia, the Cooperative Research Centre for Discovery of Genes for Common Human Diseases (CRC), Cerylid Biosciences (Melbourne) and donations from individuals.
The research was published in the journal Nature Genetics.