Functional inference of methylenetetrahydrofolate reductase gene
polymorphisms on enzyme stability as a potential risk factor for Down syndrome
in Croatia
Affiliations: Department of Biology and Medical genetics, School of
Medicine, University of Rijeka, Rijeka, Croatia | Department of Obstetrics and Gynecology, Rijeka
University Hospital, Rijeka, Croatia
Note: [] Corresponding author: Bojana Brajenović – Milić, Department
of Biology and Medical genetics, School of Medicine, University of Rijeka,
Braće Branchetta 20, 51000 Rijeka, Croatia. Tel.: +38 551 651128; Fax: +38
551 678896; E-mail: [email protected]
Abstract: Understanding the biochemical structure and function of the
methylenetetrahydrofolate reductase gene (MTHFR) provides new evidence in
elucidating the risk of having a child with Down syndrome (DS) in association
with two common MTHFR polymorphisms, C677T and A1298C. The aim of this
study was to evaluate the risk for DS according to the presence of MTHFR
C677T and A1298C polymorphisms as well as the stability of the enzyme
configuration. This study included mothers from Croatia with a liveborn DS
child (n=102) or DS pregnancy (n=9) and
mothers with a healthy child (n=141). MTHFR C677T and
A1298C polymorphisms were assessed by PCR-RFLP. Allele/genotype frequencies
differences were determined using χ ^{2} test. Odds ratio
and the 95% confidence intervals were calculated to evaluate the effects of
different alleles/genotypes. No statistically significant differences were
found between the frequencies of allele/genotype or genotype combinations of
the MTHFR C677T and A1298C polymorphisms in the case and the control
groups. Additionally, the observed frequencies of the stable (677CC/1298AA,
677CC/1298AC, 677CC/1298CC) and unstable (677CT/1298AA, 677CT/1298AC,
677TT/1298AA) enzyme configurations were not significantly different. We found
no evidence to support the possibility that MTHFR polymorphisms and the
stability of the enzyme configurations were associated with risk of having a
child with DS in Croatian population.
Keywords: Down syndrome, enzyme configuration, MTHFR, polymorphisms
