677C>T and 1298A>C Polymorphisms of Methylenetetrahydropholate Reductase Gene and Biochemical Parameters in Turkish Population with Spina Bifida Occulta Spina Bifida Okkultal› Hastalarda Metilentetrahidrofolat Redüktaz (MTHFR) Geninin C677T ve A1298C Polimorfizmlerinin Analizi ve Biyokimyasal
نویسندگان
چکیده
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 (x2=3.325, P=0.068; x2=1.479, P=0.224; x2=0.275, P=0.600; respectively). 1298A>C MTHFR genotype frequency differences between the SBO patients and controls were significant (x2=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 (x2=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.
منابع مشابه
5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.
The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism. The MTHFR gene is located on chromosome 1 (1p36.3), and two common alleles, the C677T (thermolabile) allele and the A1298C allele, have been described. The population frequency of C677T homozygosity ranges from 1% or less among Blacks from Africa and the United States to 20% or more among Italians and ...
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متن کاملMutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.
Periconceptional folate supplementation reduces the risk of neural-tube defects. We studied the frequency of the 677C-->T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in 55 patients with spina bifida and parents of such patients (70 mothers, 60 fathers). 5% of 207 controls were homozygous for the 677C-->T mutation compared with 16% of mothers, 10% of fathers, and 13% of...
متن کامل[Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ].
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Point mutations in methylenetetrahydrofolate reductase (MTHFR) and hyperhomocysteinemia were implicated in the pathogenesis of diabetic nephropathy (DN) in many ethnic groups. This study addressed the association of C677T and A1298C single nucleotide polymorphisms (SNPs) of MTHFR gene with DN in Tunisian type 2 diabetes (T2DM) patients. Study subjects comprised 93 DN patients, 267 patients with...
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