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    Öğe
    677C>T and 1298A>C Polymorphisms of Methylenetetrahydropholate Reductase Gene and Biochemical Parameters in Turkish Population with Spina Bifida Occulta
    (Turkish Neurosurgical Soc, 2010) Eser, Betul; Cosar, Murat; Eser, Olcay; Erdogan, Mujgan O.; Aslan, Adem; Yildiz, Handan; Boyaci, Gazi
    AIM: This study aimed to investigate the 677C>T and 1298A>C MTHFR gene polymorphisms and their metabolic effects on the levels of folate, vitamin B12 and homocysteine in the serum of Turkish spina bifida occulta (SBO) patients and healthy individuals in disease. MATERIAL and METHODS: A case-control study was performed to detect 677C>T and 1298A>C MTHFR gene polymorphisms in 39 SBO patients and 34 healthy individuals. The folate, vitamin B12 and homocysteine concentrations in the serum of SBO and healthy individuals were evaluated and compared with MTHFR gene polymorphisms. RESULTS: 677 CC/CT/TT MTHFR genotype frequency differences between the SBO patients and controls were not significant (x(2)=3.325, P=0.068; x(2)=1.479, P=0.224; x(2)=0.275, P=0.600; respectively). 1298A>C MTHFR genotype frequency differences between the SBO patients and controls were significant (x(2)=8.477, P=0.004). The frequencies of the A and C alleles of the 1298A>C polymorphism did not differ in a statistically significant manner between the groups (x(2)=0.576, P=0.448). The biochemical parameters were not significantly different between SBO patients and healthy individuals (P>0.05). CONCLUSION: The 677C>T and 1298A>C polymorphisms of the MTHFR gene cannot be regarded as major risk factors for SBO in the Turkish patients 677TT homozygosity may affect the metabolism of homocysteine.
  • [ X ]
    Öğe
    The analyses of C677T and A1298C Polymorphisms on the MTHFR gene and Factor V Leiden mutation in Pseudotumor Cerebri Patients
    (Gene Therapy Press, 2013) Cosar, Murat; Eser, Betul; Erdogan, Mujgan Ozdemir; Eser, Olcay; Aslan, Adem; Yildiz, Handan; Korkmaz, Serhat
    Background: In this study, we aimed to investigate the genetic factors which may cause to thrombosis such as C677T and A1298C methylen-thetrahydropholate reductase (MTHFR) gene polymorphisms and Factor V Leiden mutation. Methods: A case-control study was performed to detect C677T and A1298C MTHFR and Factor V Leiden gene polymorphisms in 30 patients which have headache and prediagnosed as pseudotumor cerebri (PC) after neurological examination and cranial magnetic resonance imaging. The intracranial pressures of the patients were measured via lumbar punction and 16 of 30 patients were diagnosed as PC and the rest 14 patients diagnosed as normal patients (control group). The C677T and A1298C polymorphisms of the MTHFR gene and Factor V Leiden polymorphisms in PC and normal patients were analyzed. Results: The 677 CC/CT and 677 CC/TT MTHFR genotypes between the PC patients and controls were significant. However, 677 CT/TT MTHFR genotypes between the PC patients were not significant. We were not found 677 TT genotype in control groups. We compared 1298 AA/AC/CC genotype frequencies between the PC patients and controls groups, and the difference was not significant. There were no participants with AA genotype of Factor V Leiden. A significant association was not found between GA/GG of Factor V Leiden genotypes between PC patients and controls groups. (chi(2)=0.01, P=0.72). Conclusion: We think that C677T polymorphisms of the MTHFR can be regarded as a risk factor for PC patients. However, A1298C polymorphisms of the MTHFR and factor V Leiden polymorphisms cannot be regarded as major risk factors for PC in the Turkish population.