title: mir-126 rs4636297 and TGFβRI rs334348 functional gene variants are associated with susceptibility to endometriosis and its severity.
abstract: microRNAs (miRNAs) are negative regulators in a variety of cellular processes that occur in endometriosis. Therefore, functional polymorphisms in miRNA and miRNA binding sites may affect gene expression and contribute to susceptibility of endometriosis. In this study, we evaluated the association of two miRNA related polymorphisms, mir-126 rs4636297 and TGFβRI rs334348, with endometriosis risk and its severity. This case-control study was done on 157 endometriosis patients and 252 healthy women as a control group. Tetra amplification refractory mutation system-polymerase chain reaction (tetra-ARMS PCR) was designed to determine the polymorphisms. Our finding showed significant differences in genotype frequency of mir-126 rs4636297 between the groups (χ2= 6.26, p = 0.044). A significant protection against endometriosis was found for mir-126 rs4636297 in allele (G versus A allele: OR = 0.695, 95% CI = 0.519-0.931, p = 0.015) and genotype (GG versus AA genotype: OR = 0.451, 95%CI = 0.233-0.873, p = 0.018). Significant association was also observed between the A allele and severity of endometriosis (OR = 0.478, 95%CI = 0.297-0.768, p = 0.002). Moreover, we found a significant association between AA genotype with the risk of endometriosis (OR = 0.493, 95%CI = 0.250-0.970, p = 0.041) and its severity (OR = 0.240, 95%CI = 0.065-0.883, p = 0.032) regarding TGFβRI rs334348 polymorphism. These finding suggest that, for the first time, mir-126 rs4636297 and TGFβRI rs334348 polymorphisms may influence individual's susceptibility to endometriosis and its severity.
authors.affiliation: a Department of Biology , Islamic Azad University, Arsanjan Branch , Arsanjan , Iran.
authors.forename: Neda
authors.initials: N
authors.lastname: Sepahi
authors.affiliation: a Department of Biology , Islamic Azad University, Arsanjan Branch , Arsanjan , Iran.|b Young Researchers and Elite Club, Islamic Azad University, Arsanjan Branch , Arsanjan , Iran.
authors.forename: Leila
authors.initials: L
authors.lastname: Kohan
authors.affiliation: c Department of Obstetrics and Gynecology , Jahrom University of Medical Sciences , Jahrom , Iran , and.
authors.forename: Athar Rasekh
authors.initials: AR
authors.lastname: Jahromi
authors.affiliation: d Department of Molecular Pathology , Shiraz Molecular Pathology Research Center, Daneshbod Lab , Shiraz , Iran.
authors.forename: Yahya
authors.initials: Y
authors.lastname: Daneshbod
authors.affiliation: a Department of Biology , Islamic Azad University, Arsanjan Branch , Arsanjan , Iran.
authors.forename: Elahe Nimi
authors.initials: EN
authors.lastname: Hoveidi
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D035683:MicroRNAs / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
chemical_list: C527111:MIRN126 microRNA, human; D035683:MicroRNAs; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I
keywords: Endometriosis; TGF-βRI; mir-126; polymorphism; severity