Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2008 Sep-Oct;14(5):447-57.
doi: 10.1093/humupd/dmn016. Epub 2008 Jun 5.

The search for genes contributing to endometriosis risk

Grant W Montgomery  1 , Dale R Nyholt, Zhen Zhen Zhao, Susan A Treloar, Jodie N Painter, Stacey A Missmer, Stephen H Kennedy, Krina T Zondervan
Affiliations
Review

The search for genes contributing to endometriosis risk

Grant W Montgomery et al. Hum Reprod Update. 2008 Sep-Oct.

Abstract

Background: Genetic variation contributes to the risk of developing endometriosis. This review summarizes gene mapping studies in endometriosis and the prospects of finding gene pathways contributing to disease using the latest genome-wide strategies.

Methods: To identify candidate-gene association studies of endometriosis, a systematic literature search was conducted in PubMed of publications up to 1 April 2008, using the search terms 'endometriosis' plus 'allele' or 'polymorphism' or 'gene'. Papers included were those with information on both case and control selection, showed allelic and/or genotypic results for named germ-line polymorphisms and were published in the English language.

Results: Genetic variants in 76 genes have been examined for association, but none shows convincing evidence of replication in multiple studies. There is evidence for genetic linkage to chromosomes 7 and 10, but the genes (or variants) in these regions contributing to disease risk have yet to be identified. Genome-wide association is a powerful method that has been successful in locating genetic variants contributing to a range of common diseases. Several groups are planning these studies in endometriosis. For this to be successful, the endometriosis research community must work together to genotype sufficient cases, using clearly defined disease classifications, and conduct the necessary replication studies in several thousands of cases and controls.

Conclusions: Genes with convincing evidence for association with endometriosis are likely to be identified in large genome-wide studies. This will provide a starting point for functional and biological studies to develop better diagnosis and treatment for this debilitating disease.

PubMed Disclaimer

Figures

Figure 1:
Figure 1:
Schematic representation of possible mechanisms contributing to the development of endometriosis.
Figure 2:
Figure 2:
The basic requirements for mapping disease genes.
Figure 3:
Figure 3:
Schematic representation of the distal portion of chromosome 10 showing the region of significant linkage to endometriosis reported in Treloar et al. (2005a) and the location of candidate genes in the region screened for association with endometriosis.
See this image and copyright information in PMC

References

    1. Ammendola M, Bottini N, Pietropolli A, Saccucci P, Gloria-Bottini F. Association between PTPN22 and endometriosis. Fertil Steril. 2008;89:993–994. - PubMed
    1. Berkley KJ, Rapkin AJ, Papka RE. The pains of endometriosis. Science. 2005;308:1587–1589. - PubMed
    1. Birnbaum LS, Cummings AM. Dioxins and endometriosis: a plausible hypothesis. Environ Health Perspect. 2002;110:15–21. - PMC - PubMed
    1. Bulun SE, Gurates B, Fang Z, Tamura M, Sebastian S, Zhou J, Amin S, Yang S. Mechanisms of excessive estrogen formation in endometriosis. J Reprod Immunol. 2002;55:21–33. - PubMed
    1. Consortium TIH. A haplotype map of the human genome. Nature. 2005;437:1299–1320. - PMC - PubMed

Publication types