Genome-wide association (GWA) and replication studies

In 2008, we were funded by the Wellcome Trust to conduct the first GWA study of endometriosis. This study aims to uncover common genetic variants across the genome that increase susceptibility to endometriosis. Finding even one such variant 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 (Dr Grant Montgomery) and The Nurses’ Health Study II Endometriosis group at Harvard University (Dr Stacey Missmer). The GWA analysis is performed using 3,395 cases from the Oxford and Australian datasets, genotyped on the Illumina 660k SNP array. Significantly associated SNPs will be tested for replication in the Harvard dataset of 2,500 cases and 2,500 controls.

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.