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    Bcii-RFLP profiles for serum amiloid A1 and mutated MEFV gene prevalence in chronic renal failure patients requiring long-term hemodialysis
    (Taylor & Francis Ltd, 2015) Özdemir, Öztürk; Kayatas, Mansur; Cetinkaya, Selma; Yildirim, Malik Ejder; Sılan, Fatma; Kurtulgan, Hande Kucuk; Koksal, Binnur
    Background and aim: There is an increased mortality risk in long-term hemodialysis patients of renal failure due to the chronic inflammation. The relationship between the chronic renal failure (CRF) and the role of familial genetic markers remains incompletely understood. In the current study, it was aimed to find out the prevalence of common MEFV gene mutations and BcII polymorphism in serum amyloid A1 (SAA1) gene in chronic renal patients (CRF) who require long-term hemodialysis. Method: Current cohort includes 242 CRF patients and 245 healthy individuals from the same population. Total genomic DNA was isolated from peripheral blood-EDTA samples and genotyping of target MEFV gene was carried out by reverse hybridization Strip Assay and real-time techniques. The SAA1 gene was genotyped by the BcII-RFLP method. Results: Increased mutated MEFV genotypes were found in current CRF patients when compared with the control group from the same ethnicity and the difference was statistically significant (Table 2) (OR: 4.9401, 95% CI: 3.0694-7.9509), p < 0.0001. The most frequent point mutations were M694V and E148Q. The mutated T allel frequency in the SAA1 gene was also different when compared with the healthy controls and the difference was found to be statistically significant (chi(2) : 13.18; p = 0.000). Conclusions: The current results indicate the germline mutations in both genetic biomarkers (MEFV and SAA1 genes) that are related to inflammation and amyloidosis processes may play a crucial role in CRF pathogenesis due to the long-term chronic inflammation.
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    Variable R.Msp1 fragmentation in genomic DNA due to DNA hypomethylation in CRF patients with MTHFR C677Tgene polymorphism: From genetics to epigenetics
    (Gene Therapy and Molecular Biology, 2014) Özdemir, Öztürk; Sılan, Fatma; Urfali, Mine; Uludağ, Ahmet; Ari, Elif; Kayatas, Mansur
    The role of inflammation, hyperhomocysteinemia, germ-line genetic markers and epimutations haven't been understood completely in chronic renal failure (CRF). DNA methylation is a postreplicative modification mechanism that is strongly involved in the physiological control of epimutations and gene expression. In the current study it was aimed to find out the possible role of epigenetic alterations in renal failure due to functional MTHFR deficiency in CRF patients requiring long-term haemodialysis. Current cohort includes 228 CRF patients and 212 healthy individuals from same ethnicity. The MTHFR C677T SNP analysis was genotyped by real-time PCR analysis. Genomic DNA fragmentation sizes were correlated for wild, heterozygous and homozygous mutated CRF patients after methyl marker cognate enzyme of R.Msp1 digestion. The digested DNA fragmentation profiles were also compared by Scion Image histogram plot analysis. Increased T allele frequency was detected in CRF patients, the MTHFR 677TT genotype was found 6.1% and the T allele frequency 2.53-fold increased in CRF when compared with healthy individuals. Distinct global DNA methyl patterns that showed variable R.Msp1 fragmentations were also detected in current MTHFR gene mutated CRF patients. The current results indicate that individuals with germ-line MTHFR C677T mutations have a risk for CRF pathogenesis due to the reduced enzyme activity and global DNA hypomethylation that alters the allelic expression of distinct systemic genes. Results needs to be confirmed by a larger scale of sample size.