The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.

In 2006, we observed a borderline significant increased maternal risk of birth of a child with DS for carriers of the combined RFC1 80GG/ MTHFR 677TT genotype, and a reduced risk for carriers of RFC1 80(AA or AG)/ MTHFR 1298AA genotypes (Coppedè et al., 2006 ).

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performed a case-control study in a group of 121 American case families (mother, father, and proband with DS and AVSD) and 122 American control families (mother, father, and proband with DS and no CHD), all genotyped for 45 polymorphisms in MTHFR, MTR, MTRR, RFC1 , and CBS genes, observing that several RFC1 polymorphisms, all in strong linkage with the RFC1 80G>A one, showed nominally significant associations with AVSD, with ORs of between 1.34 and 3.78.

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