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Title:Polymorphism of the IL13 gene may be associated with uterine leiomyomas in Slovenian women
Authors:ID Krsteski, Jovan (Author)
ID Jurgec, Staša (Author)
ID Pakiž, Maja (Author)
ID But, Igor (Author)
ID Potočnik, Uroš (Author)
Files:.pdf Balkan_Journal_of_Medical_Genetics_2016_Krsteski_et_al._Polymorphism_of_the_IL13_gene_may_be_associated_With_Uterine_leiomyomas_in_Slove.pdf (478,01 KB)
MD5: 605E63C8907EF21C5BA024E4B2DF6BEC
URL http://www.degruyter.com/view/j/bjmg.2016.19.issue-2/bjmg-2016-0036/bjmg-2016-0036.xml
Work type:Scientific work
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
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 (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.
Keywords:genetic risk, uterine leiomyomas, ULM, single nucleotide polymorphism (SNP), IL13 gene
Publication status:Published
Publication version:Version of Record
Year of publishing:2016
Number of pages:str. 51-60
Numbering:Letn. 19, št. 2
PID:20.500.12556/DKUM-65322 New window
ISSN on article:1311-0160
COBISS.SI-ID:512682552 New window
DOI:10.1515/bjmg-2016-0036 New window
Publication date in DKUM:30.03.2017
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Record is a part of a journal

Title:Balkan Journal of Medical Genetics
Shortened title:Balk. J. Med. Genet.
Publisher:De Gruyter Open
COBISS.SI-ID:21017133 New window


License:CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Description:The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.
Licensing start date:30.03.2017

Secondary language

Keywords:genetsko tveganje, leiomiom maternice, gen IL13, enonukleotidni polimorfizem (SNP)


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