IMB Seminar Series – Professor Grant Montgomery,– ‘Genetic risk factors for endometriosis’
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- Genetic risk factors for endometriosis
Endometriosis is a common hormone-dependent gynaecological disorder, associated with severe pelvic pain and reduced fertility. Ectopic lesions containing tissue resembling endometrium invade other tissues primarily in the pelvic cavity. The disease is influenced by genetic and environmental factors, but molecular mechanisms remain largely unknown. Our genetic studies have identified 19 independent signals in 14 genomic regions explaining 5% of the variance in endometriosis. Endometrium is the likely tissue of origin for cells initiating lesions, but understanding the functional consequences of genetic signals remains a challenge. Gene expression studies in the endometrium and chromatin conformation capture studies have identified target genes in three genomic regions.
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