Polymorphismen im 5-Hydroxytryptaminrezeptor-System und deren Assoziation mit Merkmalen der Endometrioseerkrankung

Background: Endometriosis is defined as the presence of uterine endometrial tissue within extra-uterine sites. Infertility and pain are characteristics of the disease. The extent of the disease does not correlate with the symptoms. Aim of this study was to examine the association between polymorphisms (single nucleotide polymorphisms: SNP) in genes of the serotonin receptor 3 subunit (HT3R) and characteristics of endometriosis like severity of perceived symptoms, recurrence risk and anamnestic parameters, to gain more information about pathogenesis of the disease, with special emphasis on pain perception and pathways of pain modulation mechanism. Material and Methods: In the setting of a case control study we evaluated 184 cases and 458 controls. Patients were interviewed retrospectively to take medical history, including former operations, number of pregnancies / live-births, intensity of pain and time until recurrence of the disease. Germline DNA was isolated from peripheral blood and a total of seven SNPs in the HT3R gene were tested using polymerase chain reaction (PCR). Patients were followed up for a recurrence of the disease up to a follow up of four years. Results: The SNP rs6807362 in the HTR3C gene was found to be associated with the susceptibility of the disease. There was no major association of the analysed polymorphisms with the preoperative pain levels. Furthermore there was no correlation between the SNPs and the recurrence risk of endometriosis. Known characteristics of the disease, like a reduced number of pregnancies and live-births in endometriosis patients were confirmed in this study. Conclusion: Further studies are necessary to investigate sensitization mechanism in the peripheral and central nervous system of endometriosis patients to learn more about endometriosis-associated pain pathways, to improve treatment after surgery and develop more effective strategies for relapse prevention.