Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for down syndrome among Turkish women

2004 ◽  
Vol 127A (1) ◽  
pp. 5-10 ◽  
Author(s):  
Koray Boduroğlu ◽  
Yasemin Alanay ◽  
Berrin Koldan ◽  
Ergül Tunçbilek
Keyword(s):  
Down Syndrome ◽  
Methylenetetrahydrofolate Reductase ◽  
Turkish Women ◽  
Maternal Risk ◽  
Enzyme Polymorphisms

scholarly journals MTHFR Genetic Polymorphism As a Risk Factor in Egyptian Mothers with Down Syndrome Children

2008 ◽  
Vol 24 (1) ◽  
pp. 19-26 ◽  
Author(s):  
Nagwa A. Meguid ◽  
Ahmed A. Dardir ◽  
Mohamed Khass ◽  
Lamia El Hossieny ◽  
Afaf Ezzat ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Odds Ratio ◽  
Methylenetetrahydrofolate Reductase ◽  
Folate Intake ◽  
Maternal Risk ◽  
Genotype Frequencies ◽  
Homozygous Genotype ◽  
Significant Difference ◽  
Genetic Impact ◽  
Normal Offspring

Recent reports linking Down syndrome (DS) to maternal polymorphisms at the methylenetetrahydrofolate reductase (MTHFR) gene locus have generated great interest among investigators in the field. The present study aimed at evaluation ofMTHFR677C/T and 1298A/C polymorphisms in theMTHFRgene as maternal risk factors for DS. Forty two mothers of proven DS outcomes and forty eight control mothers with normal offspring were included. Complete medical and nutritional histories for all mothers were taken with special emphasis on folate intake. Folic acid intake from food or vitamin supplements was significantly low (below the Recommended Daily Allowance) in the group of case mothers compared to control mothers. Frequencies ofMTHFR677T andMTHFR1298C alleles were significantly higher among case mothers (32.1% and 57.1%, respectively) compared to control mothers (18.7% and 32.3%, respectively). Heterozygous and homozygous genotype frequencies ofMTHFRat position 677 (CT and TT) were higher among case mothers than controls (40.5% versus 25% and 11.9% versus 6.2%, respectively) with an odds ratio of 2.34 (95% confidence interval [CI] 0.93–5.89) and 2.75 (95% CI 0.95–12.77), respectively. Interestingly, the homozygous genotype frequency (CC) at position 1298 was significantly higher in case mothers than in controls (33.3% versus 2.1% respectively) with an odds ratio of 31.5 (95% CI 3.51 to 282.33) indicating that this polymorphism may have more genetic impact than 677 polymorphism. Heterozygous genotype (AC) did not show significant difference between the two groups. We here report on the first pilot study of the possible genetic association between DS andMTHFR1298A/C genotypes among Egyptians. Further extended studies are recommended to confirm the present work.

MTHFR677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women

2004 ◽  
Vol 134A (4) ◽  
pp. 461-461
Author(s):  
María Luisa Martínez-Frías ◽  
Eva Bermejo ◽  
Elvira Rodríguez-Pinilla ◽  
David Prieto ◽  
Luis Prieto
Keyword(s):  
Down Syndrome ◽  
Turkish Women ◽  
Maternal Risk

scholarly journals Maternal Risk for Down Syndrome Is Modulated by Genes Involved in Folate Metabolism

2012 ◽  
Vol 32 (2) ◽  
pp. 73-81 ◽  
Author(s):  
Bruna Lancia Zampieri ◽  
Joice Matos Biselli ◽  
Eny Maria Goloni-Bertollo ◽  
Hélio Vannucchi ◽  
Valdemir Melechco Carvalho ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Methylenetetrahydrofolate Reductase ◽  
Methylmalonic Acid ◽  
Folate Metabolism ◽  
Serum Folate ◽  
Vitamin B ◽  
Maternal Risk ◽  
Solute Carrier ◽  
The Impact ◽  
Homocysteine Methyltransferase

Studies have shown that the maternal risk for Down syndrome (DS) may be modulated by alterations in folate metabolism. The aim of this study was to evaluate the influence of 12 genetic polymorphisms involved in folate metabolism on maternal risk for DS. In addition, we evaluated the impact of these polymorphisms on serum folate and plasma methylmalonic acid (MMA, an indicator of vitamin B12status) concentrations. The polymorphismstranscobalamin II (TCN2)c.776C>G,betaine-homocysteine S-methyltransferase (BHMT)c.742A>G,methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR)c.677 C>T and theMTHFR677C-1298A-1317T haplotype modulate DS risk. The polymorphismsMTHFRc.677C>T and solute carrier family19 (folate transporter), member 1 (SLC19A1)c.80 A>G modulate folate concentrations, whereas the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) c.66A>G polymorphism affects the MMA concentration. These results are consistent with the modulation of the maternal risk for DS by these polymorphisms.

Response to the letter to “MTHTR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women”

2005 ◽  
Vol 134A (4) ◽  
pp. 462-462
Author(s):  
Koray Boduroğlu ◽  
Yasemin Alanay ◽  
Berrin Koldan ◽  
Ergül Tunçbilek
Keyword(s):  
Down Syndrome ◽  
Turkish Women ◽  
Maternal Risk

Methylenetetrahydrofolate Reductase Polymorphisms C677T and A1298C as Maternal Risk Factors for Down Syndrome in Jordan

2011 ◽  
Vol 15 (1-2) ◽  
pp. 51-57 ◽  
Author(s):  
May F. Sadiq ◽  
Ekhlas A. Al-Refai ◽  
Amjad Al-Nasser ◽  
Mohammad Khassawneh ◽  
Qasem Al-Batayneh
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Methylenetetrahydrofolate Reductase ◽  
Maternal Risk Factors ◽  
Maternal Risk

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

2009 ◽  
Vol 27 (6) ◽  
pp. 279-285 ◽  
Author(s):  
Haris Kokotas ◽  
Maria Grigoriadou ◽  
Margareta Mikkelsen ◽  
Aglaia Giannoulia-Karantana ◽  
Michael B. Petersen
Keyword(s):  
Down Syndrome ◽  
Methylenetetrahydrofolate Reductase ◽  
Small Sample Size ◽  
Small Sample ◽  
Chromosome 21 ◽  
Danish Population ◽  
Maternal Risk ◽  
The Common ◽  
Or Gene ◽  
The Impact

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 theMTHFR677C>T polymorphism. No significant association between the polymorphism and the risk for DS was found. We conclude that the commonMTHFR677C>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.

Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico

2019 ◽  
Author(s):  
Jorge Román Corona‐Rivera ◽  
Rafael Nieto‐García ◽  
Andrea S. Gutiérrez‐Chávez ◽  
Lucina Bobadilla‐Morales ◽  
Izabel M. Rios‐Flores ◽  
...  
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Maternal Risk Factors ◽  
Maternal Risk ◽  
Western Mexico

Abnormal folic acid-homocysteine metabolism as maternal risk factors for Down syndrome in Japan

2004 ◽  
Vol 43 (5) ◽  
pp. 285-287 ◽  
Author(s):  
Noboru Takamura ◽  
Tatsuro Kondoh ◽  
Syohei Ohgi ◽  
Kokichi Arisawa ◽  
Mariko Mine ◽  
...  
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Folic Acid ◽  
Maternal Risk Factors ◽  
Maternal Risk
Sign in / Sign up

Export Citation Format

Share Document