ABSTRACT
There is increasing evidence that endometriosis is inherited as a complex genetic
trait in which multiple genes conferring disease susceptibility interact with each
other and the environment to produce the phenotype. Research groups worldwide are
trying to identify such susceptibility genes through a “positional cloning” approach.
This involves mapping their approximate chromosomal localization using linkage analysis
by studying the segregation of DNA markers with disease in families without any knowledge
of disease mechanisms. The next stage involves choosing a candidate gene in that region,
based upon some theoretical or actual knowledge of disease mechanisms, and showing
that polymorphisms in that gene occur more frequently in affected individuals than
in controls. The approach should produce a clearer understanding of the molecular
and cellular mechanisms involved in disease etiology and pathogenesis. It is unlikely
that endometriosis is a single disease entity, and it should be possible to categorize
the disease into subtypes on the basis of genetic information. The strategy should
lead to the discovery of new drug targets, which will be a major advance given that
treatment to date has focused upon crude manipulation of ovarian function.
KEYWORDS
Endometriosis - genetics - positional cloning
