Disease Studies

Endometriosis

Endometriosis affects over 200m women worldwide with 10% of all women and up to 35% of infertile women affected. It is, however, poorly detected and often misdiagnosed. Women wait an average of 7.5 years before receiving a clear endometriosis diagnosis, and up to 75% of affected patients may be missed.

Our analysis identified disease-associated genetic variants from genes that are strongly associated with the risk of developing endometriosis, and which have a clear mechanism of action connection to the disease symptoms. Four of these have already been directly linked to endometriosis in scientific literature, providing validation for our results. One of the variants was present in every endometriosis patient, indicating a potentially strong role in disease.



Methodology

We identified only 6,272 women in UK Biobank with an endometriosis-related ICD-10 code, indicating that there may be significant mis- or under-diagnosis because the typical incidence is up to 10% of women. For this reason, we excluded any controls with the most common co-associated conditions and diseases that endometriosis is often misdiagnosed as, including IBS, uterine fibroids, and high discomfort during menstrual bleed. We selected 9,699 female controls who had not been diagnosed with endometriosis and met this criteria.


Our results/findings

We identified 2,739 combinations of SNP genotypes representing different groups of SNP genotypes that were highly associated with the endometriosis patient cohort. The majority (n=2,551) of SNPs were found in combinations of two or more SNP genotypes, and therefore would not have been found using standard GWAS analysis methods. When the SNPs were mapped to genes, we identified 345 protein-coding genes that are strongly associated with the risk of developing endometriosis. We identified a large number of genes involved in cell migration, with many linked to cancer in the context of promoting metastases. Several of these genes were also estrogen-responsive, and with differential expression in endometrial and ovarian cancers. Other genes we found regulated key processes such as cell adhesion, angiogenesis, and pro-inflammatory cytokine cascades.

Disease architecture of endometriosis generated by the PrecisionLife platform. Each color identifies a distinct patient subpopulation group.

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