The Genotype and Allele Distributions of MTHFR C677T and A1298C Gene Polymorphisms in Patients with Cerebrovascular Disease, Coagulation Disorder and those Pre-Diagnosed with Hypertension in Van Province and its Environments

Ahmet Dönder 1 * , Ragıp Balahoroğlu 1, Erdem Çokluk 1, Haluk Dülger 2, M. Ramazan Şekeroğlu 1, Tahsin Karakoyun 1
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1 Tıbbi Biyokimya Anabilim Dalı, Yüzüncü Yıl Üniversitesi, Tıp Fakültesi, Van, Türkiye
2 Tıbbi Biyokimya Anabilim Dalı, Selçuk Üniversitesi, Meram Tıp Fakültesi, Konya Türkiye
* Corresponding Author
EUR J BASIC MED SCI, Volume 2, Issue 2, pp. 41-45.
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Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folat, methionine and homocysteine metabolism. In this study, our objective is to investigate the genotype and allele distributions of MTHFR C677T and A1298C gene polymorphisms in patients with Cerebrovascular disease, Coagulation disorder and those pre-diagnosed with Hypertension in Van province and its environments. The results of the analyses C677T and A1298C gene polymorphisms in 109 patients were evaluated retrospectively. These patients were divided into three groups as Cerebrovascular disease, Hypertension and Coagulation disorder. In the analysis, CVD T (Cardiovascular Disease Thrombosis) Strip assay kit which is based on reverse hybridization technique was used. The three groups pre-diagnosed with Cerebrovascular disease, Hypertension and Coagulation disorder were found to have C677T homozygous genotype frequency of 2.70%, 9.67%, 7.31% heterozygous of 54.05%, 41.93%, 41.46% and normal 43.24%, 48.38%, 51.21%, respectively. C677T C allele frequence was %29.73, %30.64, %28.05. A1298C homozygous genotype frequency 16.21%, 6.45%, 12.19% heterozygous 45.94%, 51.61%, 58.53% normal 37.83%, 41.93%, 29.26%. A1298C A allele frequency was %39.18, %32.25, %41.46 respectively. Combined heterozygous frequency was found as thus: C677T/A1298C 27.02%, 29.03%, 24.39%. No statistically significant difference was found between three groups in terms of genotype and allele frequencies (p>0.05). The homozigot genotype frequences of MTHFR C677T and A1298C polimorphisms in patients pre-diagnosed with Hypertension, Coagulation disorder and Cerebrovascular disease in Van and its environments whereas heterozigot genotypes were found to be higher compared with the population of the combined heterozigot genotype frequencies.


Dönder A, Balahoroğlu R, Çokluk E, Dülger H, Şekeroğlu MR, Karakoyun T. The Genotype and Allele Distributions of MTHFR C677T and A1298C Gene Polymorphisms in Patients with Cerebrovascular Disease, Coagulation Disorder and those Pre-Diagnosed with Hypertension in Van Province and its Environments. Eur J Basic Med Sci. 2012;2(2):41-5.


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