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001-es BibID:	BIBFORM074283
Első szerző:	Biró Orsolya (molekuláris biológus)
Cím:	Maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms : risk factors for congenital heart disease? / Orsolya Biró, János Rigó Jr., Bálint Nagy
Dátum:	2018
Megjegyzések:	Background: Maternal MTHFR polymorphisms have been associated with higher risk for miscarriage, preeclampsia, spina bifida and congenital heart disease (CHD).MTHFR is responsible for the conversion of folic acid to the biologically active l-methylfolate (5-MTHF), thus reduced enzyme can have severe consequences. Our aims were to assess the frequency of the two most common MTHFR polymorphisms (C677T and A1298C) in our Hungarian study group and to evaluate the association between these alterations and the risk for CHD. Methods: Blood samples were collected from 40 pregnant women, 20 whose fetus was diagnosed with CHD and 20 healthy controls. DNA was isolated from buffy coat and FRET-based real-time PCR were performed using MTHFR C677T and A1298C specific probes. Genotypes were determined by melting curve analysis and frequencies were determined. The odds ratio (OR) and 95% confidence interval were calculated for CHD in each case.Results: The frequencies for each genotype in all samples were CT/aa: 22,5%, TT/aa: 15%, CC/ca: 15%, CC/cc: 22,5%, CT/ac: 12,5% ,and CC/aa: 12,5%. The frequencies for each genotype in CHD vs control group: CT/aa: 30% vs. 15%, TT/aa: 10% vs. 20%, TT/ca: 15% vs. 15%,CC/cc: 25% vs. 20%, CT/ac: 15% vs. 10%, and CC/aa: 5% vs. 20%. The combined OR of MTHFR heterozygous, compound heterozygous or homozygous vs. wild type genotype was 4.75 for CHD, but the finding was not statistically significant.Conclusion: We showed that MHTFR polymorphisms are relatively common in Hungarian women: only 12.5% of the samples were not affected by any of the alterations. The "less frequent" A1298C is occurred in 50% of the samples, at the same rate as C677T.We have not found significant associations between the investigated polymorphisms and CHD, which may be due to the protective effect of periconceptional maternal supplement of bioavailable 5-MTHF against fetal abnormalities.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idézhető absztrakt congenital heart defects maternal circulation cell-free nucleic acids
Megjelenés:	Biomedical Papers. - 162 : Suppl. 1 (2018), p. S6-S7. -
További szerzők:	Rigó János (1958-) (szülész-nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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