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

RESULTS

Association Analysis of Selected Single Nucleotide Polymorphisms. We found statistically significant differences between the SNP rs20541 of gene IL13 and ULM patients. The genotyping of IL13 and other genes was performed by HRM or RFLP analyses, as described in Materials and Methods and shown in Figure 1. The frequency of the TT genotype of rs20541 was higher in the group of healthy controls (8.7%) compared to all patients with ULM (1.0%) (p = 0.018, OR = 0.184, 95% CI = 0.048-0.712) using the recessive genotype model (TT vs. CT+CC). We also found a higher frequency of the TT genotype of rs 20541 in all controls (6.8%) compared to patients with multiple ULM, for which the frequency of the TT genotype was 1.0% using the recessive genotype model (TT vs. CT+CC) (p = 0.048, OR = 0.145, 95% CI = 0.018-1.165). The association was also statistically significant when comparing multiple ULM, where the frequency of the TT genotype was (1.0%) and healthy individuals from the normal population, where the frequency of the TT genotype was (8.7%) (p = 0.017, OR = 0.111, 95% CI = 0.014-0.902) using the recessive genotype model (TT vs. CT+ CC). Power of association analysis between phenotype (ULM vs. all controls) and dominant (CC vs. CT+TT) or recessive (CC+CT vs. TT) genetic models of rs20541 was p = 0.381 and p = 0.940, respectively. For other tested SNPs, there were no significant differences in genotype or allele frequencies between patients and controls. Results of association analyses for rs20541 of the IL13 gene are shown in Tables 2 and 3. Association Between Evaluated Single Nucleotide Polymorphisms and Clinical Characteristics. When we compared selected SNPs with clinical characteristics of patients within a particular phenotype groups, differences were found between solitary and multiple ULM. In solitary ULM, rs1801275 (IL4R) was associated with the age at first sexual intercourse (p = 0.004) where median age at first intercourse of patients exhibiting the GG genotype was 19 years and the age of patients exhibiting either the AA or AG genotype was 18. In multiple ULM, rs1801275 (IL4R) was associated with the age at diagnosis (p = 0.003) where patients with the GG genotype were younger at diagnosis (27.5 years) compared to patients with the AA or AG genotype (45 years). The SNP rs6887695 (IL12B) was associated with parity for solitary and multiple ULM subtypes. In solitary ULM, an association was found using the C vs. G allele model (p = 0.029) and using the CC vs. CG+GG genetic model (p = 0.016). On average, patients with the C allele or CC genotypes had a parity of one and patients with the G allele or the CG or GG genotypes had a parity of two. In multiple ULM, an association was detected for the C vs. G allele model (p = 0.049) and for the CC vs. CG+GG genetic model (p = 0.048). On average, patients with the C allele or CC genotype had a parity of two, and patients with the G allele or CG or GG genotypes had a parity of one. In multiple ULM, rs20541 (IL13) was associated with 17β-estradiol serum levels in the follicular phase of the menstrual cycle (p = 0.003) where patients with the CC genotype had a higher 17β-estradiol levels (0.525 nmol/L) compared to patients with either the CT or TT genotypes (0.130 nmol/L). In addition, rs11575934 (IL12RB1) was also associated with parity in multiple ULM. An association was found for the A vs. G allele model (p = 0.004) and in AA vs. AG+ GG genetic model (p = 0.009). On average, patients with the A allele and AA genotypes had a parity of two, and patients with the G allele or AG or GG genotypes had a parity of one. Logistic Regression Analyses. To further investigate possible parameters that are associated with increased risk of ULM development, we performed logistic regression analyses of selected genetic and clinical parameters in relation to solitary and multiple ULM occurrence (Table 4). For SNP rs1801275 (IL4R), association was found in allele and genotype genetic model with the ULM phenotype subgroups, where carrying the G allele (OR = 3.641, p = 2.19 × 10-2) or genotypes AG or GG (OR = 6.975, p = 7.49× 10-3), presence of adenomyosis (OR = 11.315, p = 4.55 × 10-3), higher age at diagnosis (OR = 1.086, p = 3.24 × 10-2), positive family history (OR = 0.152, p = 3.03 × 10-3), earlier menarche (OR = 0.401, p = 2.10 × 10-4), lower number of pregnancies (OR = 0.559, p = 1.99 × 10-2) and lower age at first sexual intercourse (OR = 0.655, p = 1.81 × 10-2), all increase the risk of multiple ULM development.



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