title: Increased risk of differentiated thyroid carcinoma with combined effects of homologous recombination repair gene polymorphisms in an Iranian population.
abstract: Homologous recombination (HR) repair has a crucial role to play in the prevention of chromosomal instability, and it is clear that defects in some HR repair genes are associated with many cancers. To evaluate the potential effect of some HR repair gene polymorphisms with differentiated thyroid carcinoma (DTC), we assessed Rad51 (135G>C), Rad52 (2259C>T), XRCC2 (R188H) and XRCC3 (T241M) polymorphisms in Iranian DTC patients and cancer-free controls. In addition, haplotype analysis and gene combination assessment were carried out. Genotyping of Rad51 (135G>C), Rad52 (2259C>T) and XRCC3 (T241M) polymorphisms was determined by PCR-RFLP and PCR-HRM analysis was carried out to evaluate XRCC2 (R188H) . Separately, Rad51, Rad52 and XRCC2 polymorphisms were not shown to be more significant in patients when compared to controls in crude, sex-adjusted and age-adjusted form. However, results indicated a significant difference in XRCC3 genotypes for patients when compared to controls (p value: 0.035). The GCTG haplotype demonstrated a significant difference (p value: 0.047). When compared to the wild type, the combined variant form of Rad52/XRCC2/XRCC3 revealed an elevated risk of DTC (p value: 0.007). It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphisms should be simultaneously considered as contributing to a polygenic risk of differentiated thyroid carcinoma.
authors.affiliation: Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran E-mail : fard-esfahani@pasteur.ac.ir.
authors.forename: Shima
authors.initials: S
authors.lastname: Fayaz
authors.forename: Maryam
authors.initials: M
authors.lastname: Karimmirza
authors.forename: Shokoofeh
authors.initials: S
authors.lastname: Tanhaei
authors.forename: Mozhde
authors.initials: M
authors.lastname: Fathi
authors.forename: Peyman Mohammadi
authors.initials: PM
authors.lastname: Torbati
authors.forename: Pezhman
authors.initials: P
authors.lastname: Fard-Esfahani
mesh_terms: D018249:Adenoma, Oxyphilic; D018265:Carcinoma, Papillary, Follicular / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000032:analysis / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011379:Prognosis; D051135:Rad51 Recombinase / Q000235:genetics*; D051721:Rad52 DNA Repair and Recombination Protein / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000453:epidemiology / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497194:RAD52 protein, human; D051721:Rad52 DNA Repair and Recombination Protein; C113187:XRCC2 protein, human; D004247:DNA; C495153:RAD51 protein, human; D051135:Rad51 Recombinase