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677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta.
Turk Neurosurg. 2010 Jan; 20(1):9-15.TN

Abstract

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 Aand 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.

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Authors+Show Affiliations

Eser B
Selcuk University, Meram Faculty of Medicine, Department of Medical Genetics, Konya, Turkey. drbetuleser@hotmail.com
Cosar M
No affiliation info available
Eser O
No affiliation info available
Erdogan MO
No affiliation info available
Aslan A
No affiliation info available
Yildiz H
No affiliation info available
Boyaci G
No affiliation info available
Buyukbas S
No affiliation info available
Solak M
No affiliation info available

MeSH

AdenineCase-Control StudiesCytosineFolic AcidHomocysteineHumansMethylenetetrahydrofolate Reductase (NADPH2)Polymorphism, Single NucleotideReference ValuesSpina Bifida OccultaThymineTurkeyVitamin B 12

Pub Type(s)

Journal Article

Language

eng

PubMed ID

20066615

Citation

Eser, Betul, et al. "677C>T and 1298A>C Polymorphisms of Methylenetetrahydropholate Reductase Gene and Biochemical Parameters in Turkish Population With Spina Bifida Occulta." Turkish Neurosurgery, vol. 20, no. 1, 2010, pp. 9-15.
Eser B, Cosar M, Eser O, et al. 677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta. Turk Neurosurg. 2010;20(1):9-15.
Eser, B., Cosar, M., Eser, O., Erdogan, M. O., Aslan, A., Yildiz, H., Boyaci, G., Buyukbas, S., & Solak, M. (2010). 677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta. Turkish Neurosurgery, 20(1), 9-15.
Eser B, et al. 677C>T and 1298A>C Polymorphisms of Methylenetetrahydropholate Reductase Gene and Biochemical Parameters in Turkish Population With Spina Bifida Occulta. Turk Neurosurg. 2010;20(1):9-15. PubMed PMID: 20066615.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta. AU - Eser,Betul, AU - Cosar,Murat, AU - Eser,Olcay, AU - Erdogan,Mujgan O, AU - Aslan,Adem, AU - Yildiz,Handan, AU - Boyaci,Gazi, AU - Buyukbas,Sadik, AU - Solak,Mustafa, PY - 2010/1/13/entrez PY - 2010/1/13/pubmed PY - 2010/5/1/medline SP - 9 EP - 15 JF - Turkish neurosurgery JO - Turk Neurosurg VL - 20 IS - 1 N2 - 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 Aand 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. SN - 1019-5149 UR - https://www.unboundmedicine.com/medline/citation/20066615/677C>T_and_1298A>C_polymorphisms_of_methylenetetrahydropholate_reductase_gene_and_biochemical_parameters_in_Turkish_population_with_spina_bifida_occulta_ L2 - http://www.turkishneurosurgery.org.tr/pubmed.php3?year=2010&volume=20&issue=1&page=9 DB - PRIME DP - Unbound Medicine ER -
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