Polymorphism of the IL13 Gene May be Associated with Uterine Leiomyomas in Slovenian Women

• Published in: Balkan journal of medical genetics 2016-12, Vol.19 (2), p.51-60
• Main Authors: Krsteski, J, Jurgec, S, Pakiž, M, But, I, Potočnik, U
• Format: Article
• Language: English
• Subjects: Original
• ISSN: 1311-0160; 2199-5761
• DOI: 10.1515/bjmg-2016-0036

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 genes IL4 (rs2070874), IL4R (rs1801275), IL12RB1 (rs11575934), IL12B (rs6887695), IL13 (rs20541) and IL23R (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 ( p 0.003). 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.