Abstract for presentation at 11th International Congress of Human Genetics

Gene mapping studies in endometriosis families

  • Grant Montgomery, Queensland Institute of Medical Research, Australia
  • Dr Zhen Zhen Zhao, Queensland Institute of Medical Research, Australia
  • Stuart Macgregor, Queensland Institute of Medical Research, Australia
  • Prof Peter Visscher, Queensland Institute of Medical Research, Australia
  • Ms Lien Le, Queensland Institute of Medical Research, Australia
  • Dr Krina Zondervan, University of Oxford, United Kingdom
  • Dr Stephen Kennedy, University of Oxford, United Kingdom
  • Dr Susan Treloar, Queensland Institute of Medical Research, Australia
  • Dale Nyholt, Queensland Institute of Medical Research, Australia
  • Prof Nicholas Martin, Genetic Epidemiology, Queensland Institute of Medical Research, Australia

    • Endometriosis affects up to ten percent of women and is associated with pelvic pain and infertility. The aims of our study are to identify genetic variants contributing to endometriosis and define pathways leading to disease. We recruited 1176 affected sister-pair (ASP) families in Australia and the UK where at least two sisters have surgically confirmed disease. A genome scan using these families identified significant linkage to chromosome 10q. We are conducting fine mapping by genotyping a high density of functional gene-based and tagging SNPs using the Sequenom MassARRAY and Illumina BeadStation platforms. We also conducted a genome wide association study by genotyping 100,000 SNPs in DNA pools using the Affymetrix GeneChip® SNP platform at the Australian Genome Research Facility. The pools were generated from 384 case samples drawn from our ASP families and 384 control samples and each pool was genotyped on three arrays. The data were analysed using a generalized linear mixed model approach to provide a test statistic with appropriate type I error. Results identified a small number of SNPs with significant differences between the case and control pools which we are following up by individual genotyping.

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