title: Polymorphism of theIL13gene may be associated with Uterine leiomyomas in Slovenian women.
abstract: Uterine leiomyomas (ULM) are a common cause of solid pelvic tumors in women. Their etiopathogenesis remains unclear. Interleukins (ILs) and their receptors can influence tumor biology of ULM. The aim of this study was to evaluate single nucleotide polymorphisms (SNPs) exhibited in the genesIL4(rs2070874),IL4R(rs1801275),IL12RB1(rs11575934),IL12B(rs6887695),IL13(rs20541) andIL23R(rs7517847) as risk factors for ULM in Slovenian women and to identify associations between corresponding clinical parameters and the analyzed SNPs. In addition, solitary and multiple ULM were compared to identify clinical and/or genetic parameters influencing their occurrence. We conducted a case-control study that included 181 women with leiomyomas and 133 control subjects. Genotyping of selected SNPs was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and high resolution melting (HRM) techniques. The TT genotype of rs20541 (IL13) was significantly associated with decreased risk of ULM compared to both the CC and CT genotypes [p =0.018; odds ratio (OR) = 0.184; 95% confidence interval (95% CI) = 0.048-0.7121. Using genetic and clinical data to develop a predictive model with logistic regression, we found that adenomyosis, higher age at diagnosis, family history of ULM occurrence, earlier menarche, lower number of pregnancies and lower age at first sexual intercourse, the G allele and genotypes AG and GG of rs1801275 (IL4R) were associated with an increased risk of multiple ULM occurrence. We also found an association between rs20541 (IL13) and 17ß-estradiol serum levels in patients with multiple ULM (p0.003). Our study showed, for the first time, that rs20541 (IL13) may contribute to susceptibility of ULM development and that rs1801275 (IL4R) can predispose patients to develop multiple ULM.
authors.affiliation: Centre for Human Molecular Genetics and Pharmacogenomics. Faculty of Medicine, University of Maribor, Maribor, Slovenia.
authors.forename: J
authors.initials: J
authors.lastname: Krsteski
authors.affiliation: Centre for Human Molecular Genetics and Pharmacogenomics. Faculty of Medicine, University of Maribor, Maribor, Slovenia; Centre for Human Molecular Genetics and Pharmacogenomics. Faculty of Medicine, University of Maribor, Maribor, Slovenia.
authors.forename: S
authors.initials: S
authors.lastname: Jurgec
authors.affiliation: Department of General Gynaecology and Gynaecological Urology. University Clinical Centre Maribor, Maribor, Slovenia.
authors.forename: M
authors.initials: M
authors.lastname: Pakiž
authors.affiliation: Department of General Gynaecology and Gynaecological Urology. University Clinical Centre Maribor, Maribor, Slovenia.
authors.forename: I
authors.initials: I
authors.lastname: But
authors.affiliation: Centre for Human Molecular Genetics and Pharmacogenomics. Faculty of Medicine, University of Maribor, Maribor, Slovenia; Laboratory for Biochemistry, Molecular Biology and Genomics. Faculty for Chemistry and Chemical Engineering, University of Maribor, Maribor, Slovenia.
authors.forename: U
authors.initials: U
authors.lastname: Potočnik
keywords: Genetic risk; IL13 gene; Single nucleotide polymorphism (SNP); Uterine leiomyomas (ULM)