Discovering the future of women’s health care

In This Issue

Endometriosis Research Study Newsletter  |  Fall 2009

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Scientific Discoveries


At the recent American Society of Human Genetics Annual Meeting, several scientists from Juneau presented information regarding the heritability and biomarkers associated with endometriosis.  Summaries of the items are below:

By utilizing its robust genealogy tool, GenDB, Juneau Biosciences estimated the relative risk of developing endometriosis among first-degree relatives to be 5-10-fold higher than the risk in the general population.  In addition, the analysis demonstrated that seemingly unrelated women with endometriosis are significantly closer related to one another than randomly selected controls in the general population.  This analysis highlights how Utah genealogy predicts the inheritance and complexity of endometriosis, expediting the development of a robust genetic diagnostic. 

The Heritability of Endometriosis in a Utah Population

P Farrington, G Frech, L Wong, T Maness, S Dintelman, H Albertsen, and K Ward

Juneau compared the DNA samples of 761 individuals affected with endometriosis to those of 1,531 unaffected individuals in order to detect genetic differences between the two populations.  After extensive analysis with complex laboratory equipment, Juneau identified 14 unique genetic biomarkers, called single nucleotide polymorphisms (SNPs), strongly associated with endometriosis.  These biomarkers will play a vital role in the development of a genetic diagnostic test for the condition.

Genome-wide Association Study Identifies Novel Loci Associated with Endometriosis in a Caucasian Population

H Albertsen, G Frech, S Dintelman, P Farrington, and K Ward