title: 677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta.
abstract: OBJECTIVE
  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.
  
  
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Selcuk University, Meram Faculty of Medicine, Department of Medical Genetics, Konya, Turkey. drbetuleser@hotmail.com
authors.forename: Betul
authors.initials: B
authors.lastname: Eser
authors.forename: Murat
authors.initials: M
authors.lastname: Cosar
authors.forename: Olcay
authors.initials: O
authors.lastname: Eser
authors.forename: Mujgan O
authors.initials: MO
authors.lastname: Erdogan
authors.forename: Adem
authors.initials: A
authors.lastname: Aslan
authors.forename: Handan
authors.initials: H
authors.lastname: Yildiz
authors.forename: Gazi
authors.initials: G
authors.lastname: Boyaci
authors.forename: Sadik
authors.initials: S
authors.lastname: Buyukbas
authors.forename: Mustafa
authors.initials: M
authors.lastname: Solak
mesh_terms: D000225:Adenine; D016022:Case-Control Studies; D003596:Cytosine; D005492:Folic Acid / Q000097:blood; D006710:Homocysteine / Q000097:blood; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values; D016136:Spina Bifida Occulta / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D013941:Thymine; D014421:Turkey; D014805:Vitamin B 12 / Q000097:blood
chemical_list: D006710:Homocysteine; D003596:Cytosine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000225:Adenine; D014805:Vitamin B 12; D013941:Thymine