Rate of T alleles and TT genotype at MTHFR 677C-> T locus or C alleles and CC genotype at MTHFR 1298A-> C locus among healthy subjects in Turkey: Impact on homocysteine and folic acid status and reference intervals

ÖZARDA Y., Sucu D. K. , Hizli B., ASLAN D.

CELL BIOCHEMISTRY AND FUNCTION, vol.27, no.8, pp.568-577, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 8
  • Publication Date: 2009
  • Doi Number: 10.1002/cbf.1610
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.568-577
  • Bursa Uludag University Affiliated: Yes


Methylenetetrahydrofolate reductase (MTHFR) is important for folate and homocysteine (Hcy) metabolism. MTHFR 677C->T and 1298A->C MTHFR are two most common mutations which can affect. folate and total homocysteine (tHcy) status This study was designed to determine the rate of,MTHFR 677C->T and 1298A->C mutations. and their Influence Oil serum folate, Hcy and vitamin B12 Status and the reference intervals in 402 healthy Turkish adults. The rate of MTHFR 677C->T or 1298A->C mutations was 50 7% or 54 7%. respectively. The MTHFR 677C->T mutation-specific reference intervals for serum folate and tHcy were characterized by marked shifts in their upper limits In homozygote subjects for MTHFR 677C->T serum folate concentration was lower and serum tHcy concentration was higher than those in the wild genotype. all subjects had lower serum folate and 54% of the subjects had higher tHcy concentration,; than the cutoff Values of <= 10 nmol/L and >= 12 mu mol/L, respectively. Serum vitamin 1312 status was similar in all genotypes Serum tHcy concentrations were inversely correlated with serum folate and vitamin B12 concentrations in all genotypes These data show that the rate of MTHFR 677C->T and 1298A->C mutations is very high in Turks and serum folate and tHcy status are impaired by these mutations Copyright (C) 2009 John Wiley & Sons, Ltd.