Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome

Investigating the Impact of the Down Syndrome Related Common MTHFR 677C>T Polymorphism in the Danish Population

“…Other studies failed to demonstrate an association between the MTHFR 677C>T polymorphism and DS in France [25,48,49], Italy [27,48,50,51], Ireland [26], Turkey [29], Brazil [32] and Northern India [52]. Coppedè et al [50] concluded that the MTHFR 677C>T polymorphism is not an independent risk factor for a DS offspring at a young maternal age, however, a role for the combined genotypes between the MTH-FR gene and the reduced folate carrier gene (RFC-1) in the risk of DS pregnancies among young Italian women cannot be excluded.…”

“…Coppedè et al [50] concluded that the MTHFR 677C>T polymorphism is not an independent risk factor for a DS offspring at a young maternal age, however, a role for the combined genotypes between the MTH-FR gene and the reduced folate carrier gene (RFC-1) in the risk of DS pregnancies among young Italian women cannot be excluded. Martin et al [52] undertook a systematic identification of common polymorphisms in the MTHFR gene. They resequenced the MTHFR gene and performed functional genomic studies using a mammalian expression system.…”

Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

“…To date, the concern for this issue was more intense in Chinese (11,15,18,26) and Indian populations (9,14,20,25). There have also been studies in Brazil (7,12,17) and a few studies in Arab populations, such as in the United Arab Emirates (6), Egypt (13) or Jordan (16).…”

“…Rai et al (2006) reported in Eastern India that the presence of two polymorphisms of the MTHFR gene (MIM *607093) (C677T and A1298C) increased the risk of trisomy 21 to a greater extent than the presence of a single polymorphism (9). Other studies failed to demonstrate correlations between MTHFR gene (MIM *607093) polymorphisms and the risk of trisomy 21 in children (20)(21)(22)(23)(24).…”

Folate metabolism and the risk of Down syndrome

“…This issue remains unresolved. In this issue, Kohli et al [22] make a contribution to this debate. They find that the C677T MTHFR polymorphism is not associated with increased risk of having a child with Down syndrome in young mothers of Northern Indian origin.…”