Balkan Journal of Medical Genetics

GA GENOTYPE OF THE ARG280HIS POLYMORPHISM ON THE XRCC1 GENE: GENETIC SUSCEPTIBILITY GENOTYPE IN DIFFERENTIATED THYROID CARCINOMAS?
Kirnap NG1,*, Tutuncu NB1,2, Yalcin Y2, Cebi HPB2, Tutuncu T2,3, Nar A1, Verdi H2, Atac FB2
*Corresponding Author: Nazlı G. Kirnap, M.D., Department of Endocrinology and Metabolism, Başkent University Faculty of Medicine, Taskent Caddesi No. 77, Bahcelievler, 06490, Ankara, Turkey. Tel.: +90-(0)312-203-6868. Fax: +90-(0)312-304-2700. E-mail: kirnapnazli@hotmail.com
page: 73

MATERIALS AND METHODS

In a case-control setting, all subjects admitted to the outpatient clinic of the Department of Endocrinology and Metabolism in Başkent University, Faculty of Medicine, Ankara, Turkey, between January 2005 and December 2015 were evaluated consecutively for inclusion in the study. The present study protocol was reviewed and approved by the Institutional Review Board of Başkent University College of Medicine [approval No. KA14/223]. This study has been approved by Başkent University’s Medical Sciences Ethics Committee, and therefore performed per the ethical standards laid down by the 1964 Declaration of Helsinki and its later amendments. All subjects were between 18-75 years of age. The exclusion criteria of the study included patient disagreement, having bleeding diathesis (hematological diseases, drug use, etc.) precluding performance of FNAB or the coexistence of another cancer. A total of 383 cases had thyroid nodules bearing indication for FNAB. A total of 100 patients with FNAB results constituted the cancer-free goitrous control group with benign thyroid nodules (BTN). Patients in the BTN group were the patients with indication for biopsy due to existing nodules, and underwent biopsy at least once. It comprised patients who required repeat biopsy (e.g., increase in size, change in nodule characteristics) during their follow-up and whose biopsy results were benign. Among these patients, we did not find any whose first biopsy was benign and whose repeat biopsy from the same nodule was malignant. The remaining 228 patients comprised the DTC group. The third group was comprised of 93 healthy participants with normal thyroid function and ultrasonography. Clinical variables such as radiation exposure, family history, smoking status, body fat distribution and the presence of Hashimoto’s thyroiditis were determined from patients’ medical records. Peripheral blood samples were drawn for XRCC1 genotyping and polymorphism evaluation. Genotyping Analysis. Genomic DNA was extracted from peripheral lymphocytes using phenol-chloroform extraction. Using real-time polymerase chain reaction (qPCR), followed by melting curve analysis with fluorescence- labeled hybridization probes in a LightCycler (Roche Diagnostics GmbH, Mannheim, Germany), XRCC1 Arg194Trp (rs1799782), Arg280His (rs25489) and Arg399Gln (rs25487) genotypes were analyzed [8]. The PCR primers and probes were designed using TIB MolBiol tool (TIB MolBiol Syntheselabor GmbH, Berlin, Germany). The annealing temperature of the primers was 60 °C. For all polymorphisms, PCR was performed with LC fast start DNA master HybProbere agents (Roche Diagnostics GmbH) in a volume of 10 μL using 10 ng of DNA. Reaction conditions were as follows: initial denaturation at 95 °C for 10 seconds, followed by 40 cycles of denaturation at 95 °C for 15 seconds, annealing at 55 °C for 10 seconds, and elongation at 72 °C for 12 seconds. Melting curve analysis was performed with an initial denaturing step at 95 °C for 5 seconds, 45 °C for 20 seconds, slow heating to 75 °C with a ramp rate of 0.11 °C/second and continuous fluorescence detection. Statistical Analyses. The χ2 test was used to compare the XRCC1 genotype frequencies of the groups. Genotype frequencies in each group were determined by univariate analysis and evaluated for Hardy-Weinberg disequilibrium by the χ2 test. The Student’s t-test was used to compare the means of two independent groups when assumptions for the parametric tests were met. When these assumptions were not met, the Mann-Whitney U test was used to compare the medians of two groups. The results were expressed as n for the number of observations, (X ± Sx) for mean ± SD, (M) for median, and minimum-maximum values. Pearson χ2 test was used to analyze categorical variables, and Fisher’s exact test was used to determine the association between the variables. Data were analyzed using the Statistical Package for the Social Sciences, version 17.0 (SSPS Inc., Chicago IL, USA). A p value of <0.05 was considered to be statistically significant.

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