Abstract
BackgroundThe aim of this study was to determine whether the serotonin transporter gene (5-HTT), a key component in the control of the serotonergic system, is associated with endometriosis in an Italian population.FindingsA case–control study, comprising 137 Italian patients with surgically confirmed endometriosis and 120 healthy controls, was carried out. 5-HTT genotypes (LL, SL and SS) were obtained by polymerase chain reaction and gel electrophoresis analysis. We found no overall difference in genotypic and allelic distributions of the 5-HTT gene between cases and controls.ConclusionsOur results suggest that the 5-HTT L/S promoter polymorphism is not associated with susceptibility to endometriosis in the studied Italian patients.
Highlights
The aim of this study was to determine whether the serotonin transporter gene (5-HTT), a key component in the control of the serotonergic system, is associated with endometriosis in an Italian population
Endometriosis is a gynecological condition characterized by the presence of ectopic endometrial tissue outside the uterus associated with pelvic pain and infertility [1]
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Summary
Endometriosis is a gynecological condition characterized by the presence of ectopic endometrial tissue (endometrial glands and stroma) outside the uterus associated with pelvic pain and infertility [1]. The disease affects 6-10% of women in reproductive age with or without pelvic pain and more than 30% of infertile women [2,3,4]. Endometriosis varies from a mild disease with only peritoneal lesions to a severe form involving both ovaries associated with infiltrating foci and extensive adhesions. S allele is associated with low levels of 5-HTT mRNA and with a reduced serotonin re-uptake. The aim of the present study was to assess the role of genetic factors in the etiopathogenesis of endometriosis linked to the genotype of the serotonin transporter gene regulatory region compared with healthy women
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