Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study.
Recent reports linking Down syndrome (DS) to maternal polymorphism at the methylenetetrahydrofolate dehydrogenase (MTHFD) locus have generated a great interest among investigators in the field. In the current study, we examine one genetic polymorphism involved in homocysteine/folate pathway as a risk factor for DS in a Romanian urban-area women cohort. Our results show that the frequencies of MTHFD1 alleles, as well as the frequencies of MTHFD11958 genotypes (GG, GA, AA, GA+AA) do not correlate with DS pregnancies, demonstrating no difference between the case and control groups, as opposed to the findings of Scala et al. (2006) on an Italian cohort.
Carol Davila University of Medicine and Pharmacy, Department of Genetics, Bucharest, Romania. delia_neagos05@yahoo.com
Daniela
D
Neagos
Ruxandra
R
Cretu
Andreea
A
Tutulan-Cunita
Veronica
V
Stoian
Laurentiu Camil
LC
Bohiltea
D000328:Adult; D004314:Down Syndrome / Q000453:epidemiology*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D007223:Infant; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics*; D015778:Minor Histocompatibility Antigens; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D012307:Risk Factors; D012383:Romania / Q000453:epidemiology; D014505:Urban Population / Q000706:statistics & numerical data
D015778:Minor Histocompatibility Antigens; C539735:MTHFD1 protein, human; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP)
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