scholarly journals Coagulation factors II,V and methylene tetrahydrofolate reductase gene polymorphism in patients with diabetic nephropathy: prevalence, clinical and prognostic implications

2010 ◽  
Vol 13 (1) ◽  
pp. 6-9 ◽  
Author(s):  
Olga Filippovna Sibireva ◽  
Ekaterina Yur'evna Khitrinskaya ◽  
Vadim Vital'evich Kalyuzhin ◽  
Aleksey Eduardovich Sazonov ◽  
Igor Ivanovich Ivanchuk ◽  
...  

Aim. To study prevalence, clinical and prognostic significance of prothrombotic genotypes pre-dominant in inborn thrombophilia in patients with diabeticnephropathy (DN). Materials and methods. A total of 90 patients with DN were examined; 54 and 36 cases suffered DM1 and DM2 respectively. Control group comprised100 healthy subjects. PCR was used to iden-tify single nucleotide substitution (C677T) in the methylene tetrahydrofolate reductase gene (MTHFR),point mutation in coagulation factor V gene (FV), and G202210A mutation in factor II gene (FII). Results. The probability of DN in patients with DM1 increases in the presence of Leiden mutation and in DM2 patients in the presence of single nucleotidesubstitu-tion (C677T) in MTHFR gene and G202210A mutation in the 3-untranslated region of FII. Conclusion. The prevalence of the above mutations associated with blood coagulation potential in DN patients is higher than in healthy subjects.Key words: diabetes mellitus, diabetic nephropathy, gene polymorphism, methylenetetrahydrofolate reductase

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Saeideh Amani ◽  
Ebrahim Mirzajani ◽  
Seyed Mehrdad Kassaee ◽  
Minoo Mahmoudi ◽  
Fardin Mirbolouk

AbstractBackgroundWe pursued to find out the possible association of Methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, blood homocysteine, vitamin B12, and folate with Coronary artery disease (CAD) in the study population in Guilan, north of Iran.Material and MethodsNinety patients with CAD and 76 healthy controls were evaluated. MTHFR A1298C polymorphism and its genotype frequency, the plasma level of homocysteine, vitamin B12 and folate were evaluated by using ARMS-PCR, ELISA, and Chemiluminescence methods, respectively.ResultsThe frequency of genotypes, A, AC and CC in CAD were 40, 35.6, 24.4%, respectively which was significantly different (p=0.016) from the control group that were 26.3, 57.9 and 15.8%, respectively. The serum level of vitamin B12 and folate in genotype A1298C were not statistically significant between two groups (p>0.05), however, the plasma homocysteine in patients with CAD was remarkably higher than the control group (p<0.001). Additionally, in CAD patients the plasma level of homocysteine in the AC genotype was significantly higher than the control subjects (p=0.005).ConclusionIt is thus concluded that MTHFR A1298C gene polymorphism is associated with CAD. It seems that the AC genotype of MTHFR A1298C polymorphism might have a protective effect on CAD.


1997 ◽  
Vol 77 (06) ◽  
pp. 1052-1054 ◽  
Author(s):  
Elvira Grandone ◽  
Maurizio Margaglione ◽  
Donatella Colaizzo ◽  
Giuseppe Cappucci ◽  
Dario Paladini ◽  
...  

SummaryWe performed a case-controlled study to investigate whether the FV Leiden mutation and the C>T677 polymorphism of the 5,10 methylene tetrahydrofolate reductase (MTHFR) are associated with the occurrence of preeclampsia in 96 otherwise healthy preeclamptic women and 129 parous women as controls. FV Leiden carriers were 10 (10.5%) in cases and 3 (2.3%) in controls (OR: 4.9, 95% Cl: 1.3-18.3). MTHFR TT homozygotes were 28 (29.8%) in cases and 24 (18.6%) in the control group (OR: 1.8,95% Cl 1.0-3.5). No difference in any of the polymorphisms was found between proteinuric (n = 45) and non-proteinur-ic (n = 51) patients. Moreover, MTHFR polymorphism does not affect the association between FV Leiden and preeclampsia. In conclusion, FV Leiden mutation and MTHFR TT genotype are associated with the occurrence of preeclampsia, suggesting that, during pregnancy, women carrying these gene variants are prone to develop such a complication.


2010 ◽  
Vol 38 (2) ◽  
pp. 991-996 ◽  
Author(s):  
Sulhattin Arslan ◽  
Sule Karadayi ◽  
Malik Ejder Yildirim ◽  
Ozturk Ozdemir ◽  
Ibrahim Akkurt

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