International study pinpoints endometriosis genes

London, 29 October 2012

Research groups led by Dale Nyholt and Grant Montgomery in Australia, Hitoshi Zembutsu and Amanda Sklow in Japan, and Krina Zondervan in the UK have identified four new gene regions linked to endometriosis.

Lead author, assistant professor Dale Nyholt

The genome-wide study of 5648 Australian, Japanese, and European women with endometriosis is a big step forward in understanding the causes of the disease.

Results were published today in Nature Genetics [1], and lead author, associate professor Dale Nyholt from the Queensland Institute of Medical Research (QIMR), said the findings were a major genetic discovery in a condition with so many unknowns.


These discoveries will help us identify the underlying biological mechanisms of endometriosis, which we can ultimately use to develop new diagnostics and treatments. This study provides those all-important building blocks for future research.

said Nyholt.

According to joint senior author, Krina Zondervan, this paper combines evidence of genes underlying endometriosis from the largest genome-wide association studies of endometriosis to date in women of Japanese and European ancestry. Said Zondervan:

Krina Zondervan

Joint senior author, Krina Zondervan

A key finding is that – even though the analysis looked at different ethnic populations that we might have expected to differ in their genetic causes of the disease – the combined analysis of the datasets confirmed the results of the two loci previously reported by the independent datasets, and resulted in four additional novel genetic variants found to be associated with endometriosis.

This is an important message for novel drug treatment development, because it means that the biological pathways that these variants flag are involved in causing endometriosis in European as well as Japanese women.

Grant Montgomery

Joint senior author, professor Grant Montgomery

Senior author, professor Grant Montgomery, concluded:

The next stage is to extend our research to identify the specific genes and pathways that increase disease risk. We were recently awarded new funding for follow up studies and hope this will speed up progress towards identifying the best targets to use in developing new or improved treatments.

said Montgomery.

  1. Nyholt D, et al. Genome-wide association meta-analysis identifies new endometriosis risk loci. Nat Gen 2012 [epub ahead of print]
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