The role of estrogen receptor alpha, COL3A1, and fibulin-5 genes polymorphisms as risk factors for pelvic organ prolapse in Balinese women

Introduction. Pelvic organ prolapse (POP) is a common problem in women, though not life-threatening, it gives negative impacts on the patient’s quality of life. Balinese women are known to have clinical risk factors for POP including multiple pregnancies and childbirth (multiparity). The existence of genetic variation, estrogen receptor ? and extracellular matrix genes polymorphisms, are thought to be genetic risk factors. Methods. A paired case-control study on Balinese women was conducted in Sanglah Hospital, Prima Medika Hospital Denpasar, and Integrated Biomedical Laboratory to prove that estrogen receptor ?, col3a1, and fibulin-5 genes polymorphisms as risk factors for POP. About 30 women with POP as the case group and 30 women without POP as a control group, matched according to parity and work variables. Three milliliters of venous blood sample was drawn for deoxyribonucleic acid isolation, polymerase chain reaction, and sequencing to determine the presence of genetic variation in the form of estrogen receptor ?, col3a1, and/or fibulin-5 genes polymorphism. Results. Estrogen receptor ? gene polymorphism in Balinese women increased the risk of POP to 5.5 times higher (p= 0.022) and 3.25 times higher in Col3A1 gene polymorphism (p= 0.049). It was also found that fibulin-5 gene polymorphism was not represented a risk factor for POP (p = 0.774). Conclusions. It was concluded that estrogen receptor ? and Col3A1 gene polymorphisms are represented risk factors for POP in Balinese women. Keywords: estrogen receptor ?, col3a1, and fibulin-5 genes polymorphisms, pelvic organ prolapse