The search for genetic variants predisposing women to endometriosis

There is a growing interest in the search for genetic variants that predispose women to endometriosis, yet little headway has been made in the identification of such variants, and published studies are often conflicting. This review evaluates the evidence for a hereditary component in endometriosis, appraises the evidence of linkage and association of genetic polymorphisms and endometriosis, and discusses the implications of this reappraisal for clinical practice and research.

The familial aggregation of endometriosis appears to be established although most family studies suffer from various methodological deficiencies, such as failure to control for risk factors and the number of sisters that cases and controls have. The familial aggregation could also be attributed to familial aggregation of risk factors and/or some intermediatory traits that have genetic components. The published association studies are often conflicting, perhaps reflecting these uncertainties.

The search for genetic variants predisposing women to endometriosis has generated a lot of interest, and yet so far it has not shed much light on its pathogenesis. Further genetic epidemiological studies with more solid design and methodological rigor are needed.