Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects

Anne Parle-McDermott; James L. Mills; Peadar N. Kirke; Valerie B. O'Leary; Deborah A. Swanson; Faith Pangilinan; Mary Conley; Anne M. Molloy; Christopher Cox; John M. Scott; Lawrence C. Brody

doi:10.1007/s10038-003-0008-4

Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects

Anne Parle-McDermott, James L. Mills, Peadar N. Kirke, Valerie B. O'Leary, Deborah A. Swanson, Faith Pangilinan, Mary Conley, Anne M. Molloy, Christopher Cox, John M. Scott, Lawrence C. Brody

Research output: Contribution to journal › Article › peer-review

50 Scopus citations

Abstract

The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A → C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A → C. 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.

Original language	English (US)
Pages (from-to)	190-193
Number of pages	4
Journal	Journal of Human Genetics
Volume	48
Issue number	4
DOIs	https://doi.org/10.1007/s10038-003-0008-4
State	Published - 2003
Externally published	Yes

Keywords

A1298C
C677T
Linkage disequilibrium
MTHFR
Neural tube defects

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/s10038-003-0008-4

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title = "Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects",

abstract = "The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A → C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A → C. 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.",

keywords = "A1298C, C677T, Linkage disequilibrium, MTHFR, Neural tube defects",

author = "Anne Parle-McDermott and Mills, {James L.} and Kirke, {Peadar N.} and O'Leary, {Valerie B.} and Swanson, {Deborah A.} and Faith Pangilinan and Mary Conley and Molloy, {Anne M.} and Christopher Cox and Scott, {John M.} and Brody, {Lawrence C.}",

year = "2003",

doi = "10.1007/s10038-003-0008-4",

language = "English (US)",

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T1 - Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects

AU - Parle-McDermott, Anne

AU - Mills, James L.

AU - Kirke, Peadar N.

AU - O'Leary, Valerie B.

AU - Swanson, Deborah A.

AU - Pangilinan, Faith

AU - Conley, Mary

AU - Molloy, Anne M.

AU - Cox, Christopher

AU - Scott, John M.

AU - Brody, Lawrence C.

PY - 2003

Y1 - 2003

N2 - The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A → C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A → C. 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.

AB - The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A → C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A → C. 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.

KW - A1298C

KW - C677T

KW - Linkage disequilibrium

KW - MTHFR

KW - Neural tube defects

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JF - Journal of Human Genetics

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ER -

Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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