Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.

Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Research Abstract Details 

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Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Abstract Text:

Abee L Boyles,Ashley V Billups,Kristen L Deak,Deborah G Siegel,Lorraine Mehltretter,Susan H Slifer,Alexander G Bassuk,John A Kessler,Michael C Reed,H Frederik Nijhout,Timothy M George,David S Enterline,John R Gilbert,Marcy C Speer, ,

BACKGROUND: Folate metabolism pathway genes have been examined for association with neural tube defects (NTDs) because folic acid supplementation reduces the risk of this debilitating birth defect. Most studies addressed these genes individually, often with different populations providing conflicting results. OBJECTIVES: Our study evaluates several folate pathway genes for association with human NTDs, incorporating an environmental cofactor: maternal folate supplementation. METHODS: In 304 Caucasian American NTD families with myelomeningocele or anencephaly, we examined 28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyl-transferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homo-cysteine methyltransferase, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, betaine-homocysteine methyltransferase (BHMT), and cystathionine-beta-synthase. RESULTS: Only single nucleotide polymorphisms (SNPs) in BHMT were significantly associated in the overall data set; this significance was strongest when mothers took folate-containing nutritional supplements before conception. The BHMT SNP rs3733890 was more significant when the data were stratified by preferential transmission of the MTHFR rs1801133 thermolabile T allele from parent to offspring. Other SNPs in folate pathway genes were marginally significant in some analyses when stratified by maternal supplementation, MTHFR, or BHMT allele transmission. CONCLUSIONS: BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor. Further investigation of folate and methionine cycle genes will require extensive SNP genotyping and/or resequencing to identify novel variants, inclusion of environmental factors, and investigation of gene-gene interactions in large data sets.

Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Publishing Authors By Initials

AL Boyles,AV Billups,KL Deak,DG Siegel,L Mehltretter,SH Slifer,AG Bassuk,JA Kessler,MC Reed,HF Nijhout,TM George,DS Enterline,JR Gilbert,MC Speer, ,

For similar genetic phenomena: variation (genetics): polymorphism, genetic: polymorphism, single nucleotide research abstracts see: genetic phenomena: variation (genetics): polymorphism, genetic: polymorphism, single nucleotide research

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Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Environmental health perspectives

VOLUME: 114

Page Numbers: 1547-52

Journal Abbreviation: Environ. Health Perspect.

ISSN: 0091-6765

DAY: 3

MONTH: Oct

YEAR: 2006

Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 330411

Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Keywords Mesh Terms:

KEYWORDS: Polymorphism, Single Nucleotide

MESH TERMS: genetics

Chemical & Substance for Abstract: Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Information

Substance Name: Folic Acid

Registry Number: 59-30-3

Grant and Affiliation Information for Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.

AFFILIATION: Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

Country: United States

AGENCY: United States NCRR

GRANT: RR020782

ACRONYM: RR

MEDLINETA: Environ Health Perspect

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