Genetic polymorphisms associated with endometriosis in Pakistani women

Background: Endometriosis is a common disease that causes pain and infertility. The heritable pre- disposition toward endometriosis motivates an interest to identify the genes and genomic variants involved in the pathogenesis of endometriosis. Both genetic and environmental factors contribute to this disease. Here we investigated in Pakistani women the association of endometriosis and single nucleotide polymorphisms (SNP) in genes previously identified in the development of this disease. Methods: DNA samples from 52 genetically unrelated endometriosis subjects with endometriosis and 52 randomly selected controls were analyzed by direct sequencing to determine polymorphisms in four genes. These included estrogen receptor alpha (ESR1) (rs2234693 C/T, rs9340799 G/A SNP), estrogen receptor beta (ESR2) (rs4986938 G/A SNP), progesterone receptor (PGR) (rs1042838 G/T, rs10895068 G/A SNPs) and interleukin 10 (IL10) (rs1800871 C/T, rs1800872 C/A and rs1800896 G/A SNPs). results: The allele A at −592, T at −819 and G at −1080 of IL10 and all of the SNPs studied at ESR2 and PGR show strong, statistically significant associations with the disease. However, the genetic variation at ESR1 was distributed similarly among cases and control groups. conclusion: These findings suggest that the functional promoter polymorphism of the IL10 gene, identified by the "ATG" genotype, may contribute to the risk of endometriosis. Genetic variants of ESR2 and PGR gene may also be a risk factor as well as influence the fertility status of patients with endometriosis.