Department of Zoology, GC University, Lahore - Pakistan;
Irfana Liaqat;Nusrat Jahan;Khalid P. Lone;Andrew Pakstis;Hugh S. Taylor;
Background: Endometriosis is a common disease that causes pain and infertility. The heritable predisposition 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 CIA and rs1800896 G/A SNPs).