Genome-wide association (GWA) and replication studies, to uncover genetic variants associated with endometriosis

In 2008, we were funded by the Wellcome Trust to conduct the first GWA study of endometriosis. This study aimed to uncover common genetic variants across the genome that increase susceptibility to endometriosis. Finding such variants will provide novel insights into the pathophysiological processes underlying the condition, and may ultimately help towards the development of novel diagnostic tests and treatment options.

The study is conducted by the International Endogene Consortium, comprising the OXEGENE study at NDOG in Oxford, the GBE Study at QIMR (Grant Montgomery), together comprising 3,395 cases which were genotyped on the Illumina 660k GWAArray, and The Nurses' Health Study II Endometriosis group at Harvard University (Stacey Missmer), with 2,500 cases and 2,500 controls used for replication analyses. To date, our collaborative work has resulted in the identification of 7 of the now 9 known genome-wide significant loci involved in endometriosis aetiology: see Nature Genetics 2011 (PubMed 21151130) and 2012 (PubMed 23104006); and Human Reproduction Update (in press, 2014).

Further analyses, incorporating additional GWAS as well as Exome datasets, are ongoing.


Example of a SNP genotype cluster plot from a genotyping array. Each circle represents one individual's genotype. Blue and red clouds indicate homozygote genotypes for the SNP (AA/aa), green heterozygote (Aa), and light blue undetermined