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

被引：0
作者：
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
机构：
[1] Trinity College Dublin,Department of Biochemistry
[2] National Institute of Child Health and Human Development,Division of Epidemiology, Statistics and Prevention Research
[3] National Institutes of Health,Child Health Epidemiology Division
[4] Health Research Board,Genome Technology Branch
[5] National Human Genome Research Institute,Department of Clinical Medicine
[6] National Institutes of Health,undefined
[7] Trinity College Dublin,undefined
来源：
Journal of Human Genetics | 2003年 / 48卷
关键词：
MTHFR; A1298C; Neural tube defects; C677T; Linkage disequilibrium;
D O I：
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学科分类号：
摘要：
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.
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页码：190 / 193
页数：3
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