Genetic polymorphisms in eostrogen and progesterone receptor genes in Papio anubis induced with endometriosis during early stage of the disease

Abstract

Genetic predisposition has been suggested to play a role in the pathogenesis of endometriosis. The most common pathogenetic hypotheses is that there is possible dysregulation of the ligand-receptorial signaling involving the main sex hormones, eostrogen and progesterone. This hypothesis indicates the need for studies to identify the genes and genomic variants involved in the pathogenesis of endometriosis. The present study investigated the genomic variants in eostrogen receptor 1 and progesterone receptor genes in baboons with induced endometriosis. Female adult olive baboons (n = 10) were induced with endometriosis by intraperitoneal inoculation of autologous menstrual endometrium. DNA was extracted from thirty plasma samples and analyzed by direct sequencing using gene specific primers to determine polymorphisms in eostrogen receptor 1 and progesterone receptor genes. To determine the single nucleotide polymorphisms, the DNA sequences were analyzed using Bioedit software. Twenty-six point mutations in eostrogen receptor 1 gene resulted to a change in amino acid (non-synonymous mutations) while thirteen had no effect on the amino acid sequence (synonymous mutations). There were two point mutations in progesterone gene although one had no effect on the amino acid sequence. Transition substitutions were more predominant than transversions in the eostrogen receptor 1 gene. These findings suggest that genetic variants of eostrogen receptor 1 gene are related to susceptibility to endometriosis and therefore this warrants further investigation on how they influence the disease pathogenesis.

Keywords

• endometriosis
• eostrogen receptor 1
• progesterone receptor
• polymorphisms
• papio anubis