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Objectives: In this study, we investigated the association of the human glucocorticoid receptor gene (NR3C1) Bcl-1 CG polymorphism with clinical data and response to therapy among rheumatoid arthritis (RA) patients and healthy control subjects. Patients and methods: We performed PCR-RFLP (Polymerase chain reaction-restriction fragment length polymorphism) method for identifying restriction of the Bcl-1 fragment length polymorphisms in the intron 2 region of the NR3C1 gene in 65 patients with RA (47 females, 18 males) and 70 healthy control subjects (47 females, 23 males). Clinical parameters and demographic characteristics of the patients along with previous history of drug treatments were also recorded. In addition, patients' response to treatment was monitored with the visual analog scale (VAS), Disease Activity Scores 28 (DAS28) and Health Assessment Questionnaire (HAQ) scores. Results: The genotype frequencies of the NR3C1 Bcl-1 polymorphism did not differ between the patients with RA and the controls. We detected a deviation from the Hardy- Weinberg equilibrium in the RA group for the alleles tested (Rap=0.044, Kp=0.554). However, there was no significant difference between genotypes regarding age, gender, disease duration, or clinical parameters such as DAS28 scores, VAS and HAQ values (p>0.05). Conclusion: Although the glucocorticoid receptor gene Bcl-1 polymorphism did not differ between the RA and control groups, we detected a deviation from the Hardy-Weinberg equilibrium in the RA group for the alleles tested. This indicates that the glucocorticoid receptor polymorphism, namely Bcl-1CG, may play a role in the ethiopathogenesis of RA and the treatment response with glucocorticoids. [ABSTRACT FROM AUTHOR]

Previous studies have suggested that DNA repair enzyme polymorphisms may bear prognostic value in metastatic colorectal carcinoma (MCRC). We prospectively treated 43 MCRC patients with irinotecan-based regimens (XELIRI or IFL). Allelic variants of the XRCC1 gene at codon 399 and XPD gene at codon 751 were analyzed in lymphocyte DNA by PCR–RFLP. Clinical outcome variables: overall survival (OAS), progression-free survival (PFS) and the occurrence of grade 3 or 4 hematological and gastrointestinal (GIS) toxicities were evaluated. In the univariate analysis for OAS ( n = 43) only XPD and XRCC1 polymorphisms were significant ( P = 0.05 and P = 0.04, respectively). After adjustment for performance status (ECOG = 0, 1 vs. 2) and disease extent (single vs. multiple metastatic site), XRCC1 genotype and performance status retained significance (HR = 2.85, P = 0.04, and HR = 3.19, P = 0.02, respectively). Gln/Gln genotype was associated with the greatest risk of death. Type of presentation (metastatic vs. local disease at first presentation) was the only significant predictor of PFS in the univariate analysis ( n = 40, P = 0.003). After adjustment for performance status and disease extent, type of presentation retained its significance (HR = 4.35, P = 0.003). None of the toxicities was associated with these genotypes. XRCC1 genotype independently predicted overall survival in metastatic colorectal carcinoma patients treated with irinotecan-based chemotherapy. [ABSTRACT FROM AUTHOR]