Research Topics
Genomes and Genes | Anne Parle-McDermottSummaryAffiliation: Dublin City University Country: Ireland Publications
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Publications
The impact of nutrition on differential methylated regions of the genomeAnne Parle-McDermott
School of Biotechnology, Dublin City University, Glasnevin, Dublin, Ireland
Adv Nutr 2:463-71. 2011..Although a number of candidate regions/genes have been identified to date, we are just at the beginning in terms of cataloging so-called nutrient-sensitive methylation variable positions in humans...
The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish populationAnne Parle-McDermott
School of Biochemistry and Immunology, Trinity College Dublin, Dublin, Ireland
Am J Med Genet A 143:1174-80. 2007..5-fold) associated with the 19-bp intron deletion polymorphism, but this was not significant. In conclusion, the DHFR intron 19-bp deletion allele may be a protective NTD genetic factor by increasing DHFR mRNA levels in pregnant women...- A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiencyAnne Parle-McDermott
Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin 9, Ireland
Hum Mutat 30:1650-6. 2009..We demonstrate that two of the three alleles of rs3832406 are functionally different and influence the splicing efficiency of the alternate MTHFD1L mRNA transcripts... - Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defectsAnne Parle-McDermott
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
J Hum Genet 48:190-3. 2003..Our findings do not support a role for the 1298A-->C polymorphism in NTDs (OR 0.85 (95% CI 0.49-1.47), p= 0.55), nor do we observe a combined effect with the 677C-->T polymorphism... - Analysis of methionine synthase reductase polymorphisms for neural tube defects risk associationValerie B O'Leary
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
Mol Genet Metab 85:220-7. 2005..The frequencies of I22M and K350R differed significantly between the two groups (p = 0.0005 and p = 0.0001, respectively). Our findings do not support an important role for these MTRR variants in NTDs... - MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentaeAnne Parle-McDermott
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
Am J Med Genet A 132:365-8. 2005..We conclude that women who are 'QQ' homozygote for the MTHFD1 1258G --> A (R653Q) polymorphism are almost three times more likely to develop severe abruptio placentae during their pregnancy than women who are 'RQ' or 'RR.'.. - Screening for new MTHFR polymorphisms and NTD riskValerie B O'Leary
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
Am J Med Genet A 138:99-106. 2005..This is the first NTD association study of both R594Q and the novel P39P. The association with NTD risk reported for these SNPs is driven by the linkage disequilibrium with the A222V (677C->T) NTD risk factor... - Analysis of the MTHFD1 promoter and risk of neural tube defectsNicola Carroll
Dublin City University, Ireland
Hum Genet 125:247-56. 2009..R653Q (c.1958 G > A; dbSNP rs2236225) polymorphism. These results provide the first insight into how MTHFD1 is regulated and further emphasise its importance during embryonic development... - Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish populationAnne Parle-McDermott
School of Biochemistry and Immunology, Trinity College Dublin, Dublin, Ireland
Eur J Hum Genet 14:768-72. 2006..We have established that the MTHFD1 1958G>A polymorphism has a significant role in influencing a mother's risk of having an NTD-affected pregnancy in the Irish population... - Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defectsAnne Parle-McDermott
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
Mol Genet Metab 80:463-8. 2003..002; H532R, P</=0.001; V671I, P=0.006). In conclusion, common variants in the mutase gene do not appear to be risk factors for NTDs but their allele frequencies are significantly different between ethnic groups... - Reduced folate carrier polymorphisms and neural tube defect riskValerie B O'Leary
Department of Biochemistry, Trinity College Dublin, Ireland
Mol Genet Metab 87:364-9. 2006..The previously unstudied 61 bp tandem repeat, however, has a possible protective NTD effect in our Irish population. This requires confirmation in other studies... - Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in IrelandStefano Minguzzi
Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin, Ireland
BMC Med Genet 13:29. 2012..This required the development of a new melting curve assay to genotype the technically challenging MTHFD1L triallelic deletion/insertion polymorphism (rs3832406)... - Analysis of the human folate receptor beta gene for an association with neural tube defectsValerie B O'Leary
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
Mol Genet Metab 79:129-33. 2003..Highly significant allele frequency differences were observed between populations. In conclusion, SNP rs651646 within the FRbeta gene is polymorphic but is not associated with neural tube defects within the Irish population... - The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levelsAnne Parle-McDermott
School of Biochemistry and Immunology, Trinity College Dublin, Ireland
Mol Genet Metab 88:290-4. 2006..Thus, these two common polymorphisms change a metabolic phenotype in opposite directions suggesting that their cancer protective associations are by different mechanisms... - A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy lossAnne Parle-McDermott
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
Mol Hum Reprod 11:477-80. 2005..Neither showed evidence of significantly affecting the maternal risk of having a second trimester pregnancy loss. In conclusion, the MTHFD1 1958AA genotype may be an important maternal risk factor to consider during pregnancy... - MTRR and MTHFR polymorphism: link to Down syndrome?Valerie B O'Leary
Department of Biochemistry, Trinity College, Dublin, Ireland
Am J Med Genet 107:151-5. 2002..Women who have both the MTRR and MTHFR variant genotypes are also at increased risk of producing offspring with Down syndrome... 
Investigation of the molecular response to folate metabolism inhibitionNicola Carroll
Nutritional Genomics Group, School of Biotechnology, Dublin City University Dublin 9, Ireland
J Nutr Biochem 23:1531-6. 2012..This indicates that apart from their role in the immune response, it is likely that these gene products may also have a role to play in the cellular response to folate status...- The former annotated human pseudogene dihydrofolate reductase-like 1 (DHFRL1) is expressed and functionalGráinne McEntee
School of Biotechnology, Dublin City University, Glasnevin, Dublin 9, Ireland
Proc Natl Acad Sci U S A 108:15157-62. 2011..The identification of DHFRL1 will have implications for previous research involving DHFR...