The roles of MTHFR (C677T, A1298C) and MGP (G-7A, T-138C) gene variations in development of diabetic nephropathy in patients with type 2 diabetes mellitus.

Background: The goal of this study is to determine the role of MTHFR (C677T, A1298C) and MGP (G-7A, T-138C) gene variations in DN development. Methods: There were 61 DN patients and 55 healthy controls in this study. The genotype distributions of these gene variations were determined using PCR and RFLP methods. Results: According to our study, there was no significant relationship between these gene variations and DN (p > 0.05). The allele frequencies of the MTHFR C677T gene variation in the control group were found significantly different from the Hardy-Weinberg distribution (p < 0.05). According to combined genotype analysis, GA-TT combined genotype of MGP (G-7A/T-138C) gene variations was observed significantly more in the patient group with DN. The GA-TT combined genotype of MGP (G-7A/T-138C) gene variations was differ significantly between these groups (OR: 2.359, %95 CI: 1.094-5.087, p = 0.028). Conclusion: In our study, although MTHFR and MGP gene variations were not risk factors, the GA-TT combined genotype of the MGP (G-7A/T-138C) gene variation was detected as an important risk factor for DN.

Could the mosaic pattern of chromosomal abnormality predict overall survival of patients with myelodysplastic syndrome?

OBJECTIVE/BACKGROUND: Myelodysplastic syndromes (MDSs) are a group of monoclonal hematopoietic diseases consisting of a number of various entities. The presence of differences in chromosomal content of cells within the same individual is known as chromosomal mosaicism. The impact of mosaic pattern on the prognosis of MDS has been unclear. In this study, we aimed to determine the impact of mosaic pattern on the survival of patients with MDS. METHODS: We retrospectively evaluated 119 patients diagnosed with MDS at the Trakya University Faculty of Medicine, Department of Hematology. Giemsa-Trypsin-Giemsa banding was used to evaluate chromosomal abnormality. The effect of chromosomal abnormality mosaicism on overall survival and transformation to acute leukemia was evaluated by Kaplan-Meier survival analysis. RESULTS: The mean age at diagnosis was 66.3years, and the mean disease duration was 24.2months. Chromosomal abnormality was observed in 32.5% of patients. Patients with chromosomal abnormalities comprising at least 50% metaphases had significantly lower overall survival than patients with abnormality comprising up to 50% of all abnormal metaphases (p=.003). There were no differences in transformation to acute leukemia among patients with higher and lower chromosomal mosaicism (p=.056). CONCLUSION: The most important outcome of this study was to demonstrate worse overall survival rates in MDS patients with higher abnormal chromosomal mosaicism than patients with lesser abnormal chromosomal mosaicism. Higher levels of abnormal chromosomal mosaicism did not predict transformation to acute leukemia. The cause of worse outcomes of patients with higher abnormal chromosomal mosaicism may be related to clonal mass.