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Genomes and Genes | A M MolloySummaryAffiliation: Trinity College Country: Ireland Publications
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Genetic aspects of folate metabolismAnne M Molloy
School of Medicine, Trinity College Dublin, Dublin 2, Ireland
Subcell Biochem 56:105-30. 2012..It is thus becoming clear that genetic aspects of folate metabolism are wide-ranging and may touch on events as disparate as prenatal imprinting to cancer susceptibility. This chapter will review the current knowledge in this area...- Lack of association between folate-receptor autoantibodies and neural-tube defectsAnne M Molloy
School of Medicine, Trinity College, Dublin, Ireland
N Engl J Med 361:152-60. 2009..We sought to confirm this finding in an Irish population, which traditionally has had a high prevalence of neural-tube defects... - Maternal vitamin B12 status and risk of neural tube defects in a population with high neural tube defect prevalence and no folic Acid fortificationAnne M Molloy
Schools of Medicine, Trinity College Dublin, School of Medicine, Dublin 2, Ireland
Pediatrics 123:917-23. 2009..Our objective was to quantify the effect of low B(12) status on neural tube defect risk in a high-prevalence, unfortified population... 
Effects of folate and vitamin B12 deficiencies during pregnancy on fetal, infant, and child developmentAnne M Molloy
School of Medicine, Trinity College Dublin, Ireland
Food Nutr Bull 29:S101-11; discussion S112-5. 2008..However, the implications of starting pregnancy and lactation with low vitamin B12 status have not been sufficiently researched...- Choline and homocysteine interrelations in umbilical cord and maternal plasma at deliveryAnne M Molloy
Department of Clinical Medicine and the National Human Genome Research Institute, The National Institutes of Health, Bethesda, MD, USA
Am J Clin Nutr 82:836-42. 2005..Choline, via betaine, is an important folate-independent source of methyl groups for remethylating homocysteine in liver... - Genetic variation and nutritional requirementsAnne M Molloy
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
World Rev Nutr Diet 93:153-63. 2004 - Folate and homocysteine interrelationships including genetics of the relevant enzymesAnne M Molloy
Department of Clinical Medicine, Trinity College Dublin, Ireland
Curr Opin Lipidol 15:49-57. 2004..In many instances these risks are manifested through elevated plasma homocysteine. This review focuses on current research into the contribution of genetic variability to folate status and disease predisposition... - Folate bioavailability and healthAnne M Molloy
Department of Clinical Medicine, Trinity College Dublin, Dublin 2, Ireland
Int J Vitam Nutr Res 72:46-52. 2002.... - The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defectsAnne M Molloy
School of Biochemistry and Immunology, Trinity College, Dublin, Ireland
Birth Defects Res A Clin Mol Teratol 85:285-94. 2009..Although moving forward is exciting, it is humbling that the most important result-prevention of NTDs by maternal folic acid supplementation-was achieved years ago, the direct result of Smithells' groundbreaking studies... - Folates and prevention of diseaseA M Molloy
Department of Clinical Medicine, Trinity College Dublin, Ireland
Public Health Nutr 4:601-9. 2001..While it is hard to determine if this is cause or effect, there is little doubt that if it were true then low dose folic acid intervention would be highly effective... - Methylenetetrahydrofolate reductase thermolabile variant and oral cleftsJ L Mills
National Institute of Child Health and Human Development, Bethesda, Maryland 20852, USA
Am J Med Genet 86:71-4. 1999..Am. J. Med. Genet. 86:71-74, 1999. Published 1999 Wiley-Liss, Inc... - 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... - Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defectsF Pangilinan
Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, 50 South Drive, Bethesda, MD 20892 8004, USA
J Med Genet 47:677-85. 2010..The transcobalamin II receptor (TCblR) mediates uptake of cobalamin into cells. Inherited variants in the TCblR gene as NTD risk factors were evaluated... 
Uncoupling protein 2 polymorphisms as risk factors for NTDsAdam Mitchell
Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, 50 South Drive, Bethesda, MD 20892 8004, USA
Birth Defects Res A Clin Mol Teratol 85:156-60. 2009..Interestingly, a previous study found that a common UCP2 compound homozygous genotype was associated with a threefold increase in NTD risk...- 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... - Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish populationFaith Pangilinan
Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland 20892 8004, USA
Am J Med Genet A 146:2617-25. 2008..86 [1.16-2.96], P = 0.01) and the TT genotype of rs1614984 (RR = 0.58 [0.37-0.91], P = 0.02). As multiple comparisons were made, these cannot be considered definitive positive findings and additional investigation is required... - Elevated plasma homocysteine in early pregnancy: a risk factor for the development of severe preeclampsiaA M Cotter
Department of Biochemistry, Trinity College, Dublin, and Coombe Women's Hospital, Ireland
Am J Obstet Gynecol 185:781-5. 2001..An elevated plasma homocysteine level in early pregnancy can increase the risk of developing severe preeclampsia by almost threefold... - Methionine synthase: high-resolution mapping of the human gene and evaluation as a candidate locus for neural tube defectsL C Brody
Genetics and Molecular Biology Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
Mol Genet Metab 67:324-33. 1999..A lack of association was also observed for the D1919G missense mutation within the gene. Our results suggest that inherited variation in the MS gene does not contribute to NTD risk in this population... - Associations between holotranscobalamin, vitamin B12, homocysteine and depressive symptoms in community-dwelling eldersD J Robinson
School of Biochemistry and Immunology, Trinity College, Dublin, Ireland
Int J Geriatr Psychiatry 26:307-13. 2011..Both vitamin B12 and homocysteine may exert an effect via vascular mechanisms; it is possible that other mechanisms apply. Holotranscobalamin is a novel, more accurate measure of tissue vitamin B12... - The methylenetetrahydrofolate reductase (MTHFR) gene in colorectal cancer: role in tumor development and significance of allelic loss in tumor progressionB M Ryan
Department of Gastroenterology and Clinical Medicine, St James s Hospital and Trinity College, Dublin, Ireland
Int J Gastrointest Cancer 30:105-11. 2001..We investigated whether this functional polymorphism modulates the risk of developing CRC... - 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... - 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... - 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... - 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... - 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 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... - Maternal and fetal plasma homocysteine concentrations at birth: the influence of folate, vitamin B12, and the 5,10-methylenetetrahydrofolate reductase 677C-->T variantAnne M Molloy
Department of Clinical Medicine, Trinity College Dublin, Ireland
Am J Obstet Gynecol 186:499-503. 2002..The purpose of this study was to determine the nutritional and genetic factors that influence fetal plasma homocysteine concentrations... - Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish populationDeborah A Swanson
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Birth Defects Res A Clin Mol Teratol 73:239-44. 2005..TCII levels are altered in the amniotic fluid of pregnancies affected by NTDs. Given this evidence, inherited variants in genes involved in vitamin B(12) trafficking such as TCII are candidate NTD risk factors... - 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... - 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... - Low-dose folic acid lowers plasma homocysteine levels in women of child-bearing ageS Daly
Coombe Womens Hospital, Dublin, Ireland
QJM 95:733-40. 2002..DISCUSSION: In this sub-population, low doses of folic acid significantly lower plasma homocysteine. This could be achieved safely by fortification... - Testing reported associations of genetic risk factors for oral clefts in a large Irish study populationTonia C Carter
Division of Epidemiology, Statistics, and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
Birth Defects Res A Clin Mol Teratol 88:84-93. 2010.... - 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.'.. - Folate-related gene polymorphisms as risk factors for cleft lip and cleft palateJames L Mills
Division of Epidemiology, Statistics and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Birth Defects Res A Clin Mol Teratol 82:636-43. 2008..This study examined four SNPs related to folate metabolism (MTHFR 677 C-->T, MTHFR 1298 A-->C, MTHFD1 1958 G-->A, and TC II 776 C-->G) in a large Irish population to clarify their relationship with clefts... - A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects ResLawrence C Brody
Genome Technology Branch, National Human Genome Research Institute, Bethesda, MD, USA
Am J Hum Genet 71:1207-15. 2002..003). We conclude that genetic variation in the MTHFD1 gene is associated with an increase in the genetically determined risk that a woman will bear a child with NTD and that the gene may be associated with decreased embryo survival... - Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control studyPeadar N Kirke
Child Health Epidemiology Division, Health Research Board, Dublin 2, Ireland
BMJ 328:1535-6. 2004 - Elevated plasma homocysteine in early pregnancy: a risk factor for the development of nonsevere preeclampsiaAmanda M Cotter
Department of Biochemistry, Trinity College Dublin and Coombe Women s Hospital, Dublin, Ireland
Am J Obstet Gynecol 189:391-4; discussion 394-6. 2003..The aim of this study was to determine whether an elevated plasma homocysteine in early pregnancy is also associated with the development of nonsevere preeclampsia... - Homocysteine concentration, related B vitamins, and betaine in pregnant women recruited to the Seychelles Child Development StudyJulie Mw Wallace
Northern Ireland Centre for Food and Health, School of Biomedical Sciences, University of Ulster, Coleraine, United Kingdom
Am J Clin Nutr 87:391-7. 2008..Both folate and betaine are important predictors of total homocysteine (tHcy) during pregnancy. However, studies to date have only been undertaken in populations with Western dietary patterns... - Maternal homocysteine before conception and throughout pregnancy predicts fetal homocysteine and birth weightMichelle M Murphy
Unit of Preventive Medicine and Public Health, Rovira i Virgili University, Reus, Spain
Clin Chem 50:1406-12. 2004..Increased homocysteine has been associated with pregnancy complications... - Determining bioavailability of food folates in a controlled intervention studyMary P Hannon-Fletcher
Northern Ireland Centre for Food and Health and the School of Hotel, Leisure, and Tourism, University of Ulster, Coleraine, United Kingdom
Am J Clin Nutr 80:911-8. 2004..However, many published reports on folate bioavailability are problematic because of several confounding factors... - Riboflavin lowers homocysteine in individuals homozygous for the MTHFR 677C->T polymorphismHelene McNulty
Northern Ireland Centre for Food and Health, School of Biomedical Sciences, University of Ulster, Coleraine, Northern Ireland
Circulation 113:74-80. 2006.... - Folate and vitamin B12 status in relation to cognitive impairment and anaemia in the setting of voluntary fortification in the UKRobert Clarke
Clinical Trial Service Unit, University of Oxford, Oxford, UK
Br J Nutr 100:1054-9. 2008..88)). There was no evidence of modification by high folate status of the associations of low B12 with anaemia or cognitive impairment in the setting of voluntary fortification, but periodic surveys are needed to monitor fortification... - Effect of a voluntary food fortification policy on folate, related B vitamin status, and homocysteine in healthy adultsLeane Hoey
Northern Ireland Centre for Food and Health, University of Ulster, Coleraine, United Kingdom
Am J Clin Nutr 86:1405-13. 2007..Thus, it is virtually nonexistent in Europe, albeit many countries allow food fortification on a voluntary basis... - Nutrition and metabolismAnne M Molloy
Curr Opin Lipidol 17:477-9. 2006 - The effect of docosahexaenoic acid and folic acid supplementation on placental apoptosis and proliferationMario Klingler
Dr von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany
Br J Nutr 96:182-90. 2006..A defined combination of DHA and 5-MTHF may, however, affect placental proliferation... - Detection of vitamin B12 deficiency in older people by measuring vitamin B12 or the active fraction of vitamin B12, holotranscobalaminRobert Clarke
Clinical Trial Service Unit, University of Oxford, Oxford, United Kingdom
Clin Chem 53:963-70. 2007..Concentrations of this active component, carried on holotranscobalamin (holoTC), may be of greater relevance than total vitamin B(12)... - Longitudinal study of the effect of pregnancy on maternal and fetal cobalamin status in healthy women and their offspringMichelle M Murphy
Unitat de Medicina Preventiva i Salut Pública, IRCIS, Facultat de Medicina i Ciencies de la Salut, Universitat Rovira i Virgili, Reus, 43201 Spain
J Nutr 137:1863-7. 2007..707, 0.682, respectively; P < 0.01). The moderate increases observed in the cobalamin biomarker, MMA, during pregnancy may indicate a functional depletion in intracellular cobalamin status... - Nutrition and metabolismAnne M Molloy
Curr Opin Lipidol 18:372-4. 2007