POLYMORPHISM OF THE IL13 GENE MAY BE
ASSOCIATED WITH UTERINE LEIOMYOMAS
IN SLOVENIAN WOMEN
Krsteski J, Jurgec S, Pakiž M, But I, Potočnik U,
*Corresponding Author: Professor Uroš Potočnik, Ph.D., Centre for Human Molecular Genetics and Pharmacogenomics,
Faculty of Medicine, University of Maribor, Taborska Ulica 8, 2000 Maribor, Slovenia. Tel: +386-2-2345-854, Fax: +386-2-
2345-820, E-mail: uros.potocnik@um.si
page: 51
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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 genes IL4 (rs2070874), IL4R (rs1801275),
IL12RB1 (rs11575934), IL12B (rs6887695), IL13 (rs
20541) 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) = 0.048-0.712]. 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 17β-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.
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