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Genomes and GenesSpecies | J L MillsSummaryAffiliation: National Institutes of Health Country: USA Publications
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Folate and vitamin B12-related genes and risk for omphaloceleJames L Mills
Division of Epidemiology, Statistics and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD 20892, USA
Hum Genet 131:739-46. 2012..Our data, if confirmed, suggest that supplements containing both folic acid and vitamin B12 may be beneficial in preventing omphaloceles...
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...- Maternal obesity and congenital heart defects: a population-based studyJames L Mills
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda MD 20892, USA
Am J Clin Nutr 91:1543-9. 2010..Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased... - Invited commentary: Preventing neural tube defects and more via food fortification?James 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
Am J Epidemiol 169:18-21; discussion 22-3. 2009..Although these issues remain unresolved, Mosley et al. have provided important data to address the primary question: Does fortification prevent folate-related neural tube defects?.. - Neural tube defect rates before and after food fortification with folic acidJames L Mills
Division of Epidemiology, Statistics and Prevention Research, NICHD, NIH, HHS, Bethesda, Maryland 20892, USA
Birth Defects Res A Clin Mol Teratol 70:844-5. 2004..However, accurate determination of NTD rates requires counting antenatally detected cases; the CDC study noted that the number of prenatally diagnosed cases was likely underestimated... - Low vitamin B-12 concentrations in patients without anemia: the effect of folic acid fortification of grainJames L Mills
Division of Epidemiology, Statistics, and Prevention Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Am J Clin Nutr 77:1474-7. 2003..It is unclear, however, what proportion of people with low vitamin B-12 concentrations do not have anemia and whether the proportion is increasing... - Long-term mortality in the United States cohort of pituitary-derived growth hormone recipientsJames L Mills
National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, 6100 Building Room 7B03, Bethesda, MD 20892, USA
J Pediatr 144:430-6. 2004..We investigated whether they were at increased risk of death from other conditions, particularly preventable conditions... - Folate-related genes and omphaloceleJames L Mills
Division of Epidemiology, Statistics and Prevention Research, NICHD, NIH, DHHS, Bethesda, Maryland 20892, USA
Am J Med Genet A 136:8-11. 2005..This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required... - 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... - Do high blood folate concentrations exacerbate metabolic abnormalities in people with low vitamin B-12 status?James 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
Am J Clin Nutr 94:495-500. 2011..This suggests that folate exacerbates vitamin B-12-related metabolic abnormalities... - Elevated levels of growth-related hormones in autism and autism spectrum disorderJames L Mills
Division of Epidemiology, Statistics and Prevention Research, National Institute of Child Health and Human Development, National Institutes of Health DHHS, Bethesda, MD 20892, USA
Clin Endocrinol (Oxf) 67:230-7. 2007..We investigated whether children with autism were taller and heavier, and whether they had higher levels of growth-related hormones than control children did... 
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...- 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... - 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... - 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... - Long term cognitive development in children with prolonged cryingM R Rao
Epidemiology Branch, Division of Epidemiology, Statistics and Prevention Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
Arch Dis Child 89:989-92. 2004..Long term studies of cognitive development and colic have not differentiated between typical colic and prolonged crying... - 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.... - Unmetabolized serum folic acid and its relation to folic acid intake from diet and supplements in a nationally representative sample of adults aged > or =60 y in the United StatesRegan L Bailey
Office of Dietary Supplements, National Institutes of Health, Bethesda, MD, USA
Am J Clin Nutr 92:383-9. 2010..Unmetabolized serum folic acid (UMFA) has been detected in adults. Previous research indicates that high folic acid intakes may be associated with risk of cancer... - 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... - Adverse pregnancy outcomes in snuff usersLucinda J England
Division of Epidemiology, Statistics, and Prevention Research, Department of Health and Human Services, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
Am J Obstet Gynecol 189:939-43. 2003..The purpose of the study was to evaluate the effects of smokeless tobacco use during pregnancy... - Reduced bone cortical thickness in boys with autism or autism spectrum disorderMary L Hediger
Division of Epidemiology, Statistics and Prevention Research, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 7510, USA
J Autism Dev Disord 38:848-56. 2008..001). Our data suggest that the bone development of autistic boys should be monitored as part of routine care, especially if they are on casein-free diets... - Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study populationTonia C Carter
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 7510, USA
Am J Med Genet A 155:14-21. 2011..The association between a variant in COMT and spina bifida implicates methylation and epigenetics in NTDs... - Correction for multiplicity in genetic association studies of triads: the permutational TDTJames F Troendle
Biostatistics and Bioinformatics Branch of the Division of Epidemiology, Statistics, and Prevention Research of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH DHHS, Bethesda, MD 20892, USA
Ann Hum Genet 75:284-91. 2011..We conclude that permutation tests are more powerful for identifying disease-associated SNPs in candidate gene studies and are useful for analysis of triad studies... - Testing for genetic association with constrained models using triadsJ F Troendle
Division of Epidemiology, Statistics, and Prevention Research, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH DHHS, Bethesda, MD 20892, USA
Ann Hum Genet 73:225-30. 2009..The methods are applied to two SNPs on the methylenetetrahydrofolate reductase (MTHFR) gene with neural tube defect (NTD) triads... - 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... - 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... - Effects of folic acid fortification on twin gestation ratesCaroline Signore
Computer Sciences Section, Division of Epidemiology, Statistics and Prevention Research, The National Institute of Child Health and Human Development, National Institutes of Health, Health and Human Services, Bethesda, Maryland 20892, USA
Obstet Gynecol 105:757-62. 2005..level of evidence: ii-2... - Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal developmentR Moslehi
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
Clin Genet 77:365-73. 2010..Thus, we hypothesize that TTD DNA repair and transcription genes play an important role in normal human placental development... - Circulating soluble endoglin and placental abruptionCaroline Signore
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 20892, USA
Prenat Diagn 28:852-8. 2008..Our objective was to investigate whether serum concentrations of a novel anti-angiogenic factor, soluble endoglin (sEng), could predict placental abruption... - Markers of oxidative stress and systemic vasoconstriction in pregnant women drinking > or =48 g of alcohol per dayCaroline Signore
Epidemiology Branch, Division of Epidemiology, Statistics, and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Alcohol Clin Exp Res 32:1893-8. 2008..Our objective was to compare the levels of urinary markers of oxidative stress and systemic vasoconstriction between women consuming large amounts of alcohol during pregnancy and women who did not drink alcohol during pregnancy... - Eye malformations in children with heavy alcohol exposure in uteroElizabeth Y Flanigan
Division of Epidemiology, Statistics, and Prevention Research, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
J Pediatr 153:391-5. 2008..To determine whether children who do not develop fetal alcohol syndrome (FAS) despite heavy alcohol exposure are at risk for eye abnormalities... - Circulating angiogenic factors and placental abruptionCaroline Signore
Epidemiology Branch and the Biometry and Mathematical Statistics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA
Obstet Gynecol 108:338-44. 2006..3, P=.001). CONCLUSION: Serum levels of the proangiogenic factor PlGF were decreased, and those of the antiangiogenic ratio sFlt-1/PlGF were increased in nulliparous women who subsequently developed hypertension and placental abruption... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - Folic acid and the prevention of neural-tube defectsJames L Mills
N Engl J Med 350:2209-11; author reply 2209-11. 2004 - 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 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... - Plasma folate levels and risk of spontaneous abortionLena George
Department of Medical Epidemiology, Huddinge University Hospital, Karolinska Institutet, PO Box 281, SE-171 77 Stockholm, Sweden
JAMA 288:1867-73. 2002..09-3.48) but not when the fetal karyotype was normal (OR, 1.11; 95% CI, 0.55-2.24) or unknown (OR, 1.45; 95% CI, 0.90-2.33). CONCLUSION: Low plasma folate levels were associated with an increased risk of early spontaneous abortion... - Prospective identification of pregnant women drinking four or more standard drinks (> or = 48 g) of alcohol per daySofia Aros
Department of Pediatrics, School of Medicine, University of Chile, , Santiago, Chile
Subst Use Misuse 41:183-97. 2006..We identified specific interview questions that may help screen for alcohol use of 48 g/day or more in pregnant women... - 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... - Impact of CNS treatment on mood in adult survivors of childhood leukemia: a report from the Children's Cancer GroupDorie A Glover
Division of Child and Adolescent Psychiatry, Department of Psychiatry and Biobehavioral Sciences, Neuropsychiatric Institute, University of California at Los Angeles Medical Center, Los Angeles, CA 90024 175919, USA
J Clin Oncol 21:4395-401. 2003.... - Elevated pregnancy losses at high and low extremes of maternal glucose in early normal and diabetic pregnancy: evidence for a protective adaptation in diabetesLois Jovanovic
University of Washington, 325 Ninth Ave, Box 359720, Seattle, WA 98104, USA
Diabetes Care 28:1113-7. 2005..CONCLUSIONS: Pregnancy losses are increased at the extremes of glycemia in both normal and diabetic pregnancy but at higher levels in diabetic pregnancy. The data suggest defensive adaptations against hyperglycemia in diabetic pregnancy... - Cigarette smoking and the male-female sex ratioJames L Mills
Fertil Steril 79:1243-5. 2003 - Self-concept in adult survivors of childhood acute lymphoblastic leukemia: a cooperative Children's Cancer Group and National Institutes of Health studyRobin L Seitzman
Department of Pediatrics, University of California at Los Angeles, California, USA
Pediatr Blood Cancer 42:230-40. 2004..Self-concept was compared between adult survivors of childhood acute lymphoblastic leukemia (ALL) and sibling controls. Adult survivor subgroups at greatest risk for negative self-concept were identified... - Fertility of long-term male survivors of acute lymphoblastic leukemia diagnosed during childhoodJulianne Byrne
The Children s National Medical Center, Washington, DC 20010, USA
Pediatr Blood Cancer 42:364-72. 2004..However, men treated at a young age with high dose cranial RT may have impaired fertility. These results suggest that further investigation of men with these treatments is needed to confirm and extend these findings... - 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... - 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 - Fertility in women treated with cranial radiotherapy for childhood acute lymphoblastic leukemiaJulianne Byrne
Department of Hematology Oncology, Children s National Medical Center, Washington, DC 20010, USA
Pediatr Blood Cancer 42:589-97. 2004..Although leukemia is the most common cancer of childhood, until now fertility in survivors has not been comprehensively assessed...