2007
DOI: 10.1093/humrep/dem337
|View full text |Cite
|
Sign up to set email alerts
|

Genotypes of the C677T and A1298C polymorphisms of the MTHFR gene as a cause of human spontaneous embryo loss

Abstract: BACKGROUND Polymorphisms C677T and A1298C of the MTHFR gene have been implicated in fetal viability. In this study, we determined the allele and genotype frequencies of these polymorphisms in different populations, including spontaneous abortion (SA) fetal tissues, with the objective of evaluating their impact on fetal viability. METHODS 342 samples of fetal tissues, selected from SA occurring during the 1980s, 230 samples from subjects born in the 1980s and a third set of samples from 204 subjects born in the… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
5

Citation Types

3
26
0
2

Year Published

2009
2009
2023
2023

Publication Types

Select...
8
1

Relationship

0
9

Authors

Journals

citations
Cited by 37 publications
(32 citation statements)
references
References 10 publications
3
26
0
2
Order By: Relevance
“…We did not find any association between MTHFR C677T polymorphism with the risk for having a child with DS. The results are in agreement with studies performed in Mediterranean countries [4][5][6][7][8][9][10][11]24,33]. An association of the MTHFR 677T allele with DS has also been found in North and South America, Asia, and Egypt [13,18,20,24,27,36].…”
Section: Discussionsupporting
confidence: 91%
See 1 more Smart Citation
“…We did not find any association between MTHFR C677T polymorphism with the risk for having a child with DS. The results are in agreement with studies performed in Mediterranean countries [4][5][6][7][8][9][10][11]24,33]. An association of the MTHFR 677T allele with DS has also been found in North and South America, Asia, and Egypt [13,18,20,24,27,36].…”
Section: Discussionsupporting
confidence: 91%
“…The findings support linkage disequilibrium between the MTH- FR C677T and A1298C polymorphisms [1,4,10,13,31,35]. Some authors have discussed the possibility that these genotype combinations decrease embryonic viability because they were found in fetuses but rarely (677TT/1298CC) or not at all in live births [6,19,23]. Our second aim was to evaluate the possibility of the stability of the enzyme configuration as an indicator for risk of having a child with DS.…”
Section: Discussionmentioning
confidence: 60%
“…Significantly, the two MTHFR mutant homozygotes (TTCC) never occur together, which appears to be the situation globally, as large scale studies by Fredriksen et al (2007) in Norway and a meta-analysis by Martinez-frias (2008) also fail to get this combination. It is reasonable to conclude that this genotypic combination is under strong selection pressure (also see Callejon et al, 2007). In this population, only 30 individuals (2.1%) are TT homozygous, and there is hardly a TT individual whose Hcy level is less than 15 mmol/l regardless of the combination of other genes.…”
Section: Discussionmentioning
confidence: 74%
“…This might be especially critical when examining MTHFR1298A>C because this SNP seems to influence the MTHFR activity to a lesser extent than MTHFR 677C>T (6,7). Linkage between the examined SNPs has also been observed in other populations (38)(39)(40), and occurrence of compound homozygous variant genotypes has only been observed in spontaneous abortion fetal tissues (41). The lack of independence between the two SNPs also makes potential effects connected to one of them difficult to derive.…”
Section: Discussionmentioning
confidence: 99%