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：

暂无

中图分类号：

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.

引用

页码：190 / 193

页数：3

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