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Conclusions
• There is no single ‘gene for endometriosis’... more complex
• Stage III/IV is different in genetic heritable origin from stage I/II
(what does that mean?? Further subtype identification needed)
• Increased somatic genetic variation in endometriosis – role in pathogenesis unclear
• Functional studies in relevant tissues are required to understand the impact of
genetic variants on biology and pathogenesis - transcriptomics and epigenomics
• GWAS SNPs together currently explain only ~5% of disease risk -
Not currently suitable for diagnostic screening
References
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International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature. 2014;431:931-45
Painter JN et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nat. Genet. 2011;43:51-4.
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