4.1.2. Genome Mapping Studies and Targeted Gene Sequencing

In addition to genome-wide association studies, candidate gene approaches were used to test the association of specific genes with endometriosis. These studies focused on systematic sequencing of identified risk loci or used genetic mapping where variants of a gene of interest with an inferred pathophysiological relevance are tested for association with the disease in samples of endometriosis cases and controls. These approaches identified genes involved in sex hormone metabolism and signaling, growth factor signaling, cell adhesion, apoptosis, cell-cycle regulation, detoxification, and inflammation [138]. Several studies also reported genetic aberrations in tumor suppression genes, such as TP53 and PTEN, in endometriotic tissues [88]. However, most associations identified by targeted gene mapping approaches suffered from low statistical power and lack of replication [145,146].
