Τίτλος:
Investigating the impact of the Down syndrome related common MTHFR 677C
> T polymorphism in the Danish population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Chromosomal aneuploidy consists the leading cause of fetal death in our
species. Around 50% of spontaneous abortions until 15 weeks of
gestational age are chromosomally aneuploid, with trisomies accounting
for 50% of the abnormal abortions. Trisomy 21 is the most common
chromosome abnormality in liveborns and is usually the result of
nondisjunction of chromosome 21 in meiosis in either oogenesis or
spermatogenesis. To investigate the relationship between folate
metabolism and Down syndrome (DS) in a Danish population, we analyzed
the common 677C>T genetic polymorphism in the methylenetetrahydrofolate
reductase (MTHFR) gene. Our cohort consisted of 181 mothers of children
with DS versus 1,084 healthy controls. Polymerase chain reaction (PCR)
and restriction fragment length polymorphism (RFLP) were used to examine
the MTHFR 677C>T polymorphism. No significant association between the
polymorphism and the risk for DS was found. We conclude that the common
MTHFR 677C>T polymorphism is not likely to be a maternal risk factor for
DS in our cohort and that the difference to previous studies can
probably be explained by small sample size or geographic variation in
gene polymorphisms involving gene-nutritional or gene-gene or
gene-nutritional-environmental factors.
Συγγραφείς:
Kokotas, Haris
Grigoriadou, Maria
Mikkelsen, Margareta and
Giannoulia-Karantana, Aglaia
Petersen, Michael B.
Περιοδικό:
Disease Markers
Λέξεις-κλειδιά:
Down syndrome; nondisjunction; MTHFR; polymorphism; risk factor
