2009
DOI: 10.2478/s11536-009-0055-0
|View full text |Cite
|
Sign up to set email alerts
|

Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome — meta-analysis

Abstract: AbstractFolate metabolism deficiency has been related to increased occurrence of maternal non-disjunction resulting in trisomy 21. Several polymorphisms in genes coding for folate metabolism enzymes have been investigated for association with the maternal risk of Down syndrome (DS) yielding variable results. We performed a meta-analysis of case-control studies obtained through the PubMed database. The studies on polymorphisms in the MTHFR, MTRR, MTR, RFC1 and CBS genes were inc… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1
1

Citation Types

3
14
0

Year Published

2013
2013
2022
2022

Publication Types

Select...
6

Relationship

0
6

Authors

Journals

citations
Cited by 9 publications
(17 citation statements)
references
References 39 publications
3
14
0
Order By: Relevance
“…A brief look at Table 1 clearly shows the heterogeneity of the case-control studies, so far available, in terms of maternal age at delivery, with few studies performed only in women aging less than 35 years [19,21,26], others performed in matched case-control cohorts including both women aging more or less than 35 years at delivery [20,25,27], and even studies performed in unmatched case-control cohorts with a significant prevalence of aged MDS than aged control mothers [24,29]. Despite this, all those papers have been included in previous meta-analyses of the literature [15,16,17], such a heterogeneous group of available data renders almost impossible to assess the contribution of the maternal age effect in a meta-analysis. In addition, data from individual case-control studies are conflicting, including authors observing an increased effect of the RFC-1 80GG genotype with increasing maternal age [20], and others suggesting an increased maternal risk for a DS birth in young women carrying the RFC-1 80GG genotype [21].…”
Section: Discussionmentioning
confidence: 99%
See 3 more Smart Citations
“…A brief look at Table 1 clearly shows the heterogeneity of the case-control studies, so far available, in terms of maternal age at delivery, with few studies performed only in women aging less than 35 years [19,21,26], others performed in matched case-control cohorts including both women aging more or less than 35 years at delivery [20,25,27], and even studies performed in unmatched case-control cohorts with a significant prevalence of aged MDS than aged control mothers [24,29]. Despite this, all those papers have been included in previous meta-analyses of the literature [15,16,17], such a heterogeneous group of available data renders almost impossible to assess the contribution of the maternal age effect in a meta-analysis. In addition, data from individual case-control studies are conflicting, including authors observing an increased effect of the RFC-1 80GG genotype with increasing maternal age [20], and others suggesting an increased maternal risk for a DS birth in young women carrying the RFC-1 80GG genotype [21].…”
Section: Discussionmentioning
confidence: 99%
“…Unfortunately, most of those studies have been conducted in small cohorts of less than, or about, 100 case mothers each, and were often underpowered to evaluate the independent contribution of each studied polymorphism to the maternal risk for trisomy 21 in the offspring [14]. Meta-analyses of published data have been performed to overcome the limits of small case-control cohorts, revealing that both the methylenetetrahydrofolate reductase ( MTHFR c.677C>T) and the methionine synthase reductase ( MTRR c.66A>G) polymorphisms (both genes are involved in folate metabolism) might represent independent maternal risk factors for the birth of a child with DS [15,16,17]. Other polymorphic genes participating in one-carbon metabolism have been studied less extensively than the two previous ones, and results are still borderline or inconclusive for most of them [15].…”
Section: Introductionmentioning
confidence: 99%
See 2 more Smart Citations
“…Similarly, a significant pooled OR was found for the heterozygote CT, in both fixedeffects (OR = 1.26; 95% CI: 1.10-1.43) and random-effects model (OR = 1.28; 95% CI = 1.08-1.51) 10 , and stratification of data by latitude, showed association mainly in Sub-Tropical regions 10 . Also, Medica et al 14 14 . Taken overall, these data suggest a modest contribution of the MTHFR c.677C>T polymorphism to the maternal risk for having a child with DS 10,11 .…”
Section: Polymorphisms Of Folate Pathway Genes and Maternal Risk For mentioning
confidence: 97%