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

被引：55

作者：

Parle-McDermott, A ^{[1
]}

Mills, JL

Kirke, PN

O'Leary, VB

Swanson, DA

Pangilinan, F

Conley, M

Molloy, AM

Cox, C

Scott, JM

Bródy, LC

机构：

[1] Univ Dublin Trinity Coll, Dept Biochem, Dublin 2, Ireland

[2] NICHHD, Div Epidemiol Stat & Prevent Res, NIH, Bethesda, MD 20892 USA

[3] Hlth Res Board, Child Hlth Epidemiol Div, Dublin, Ireland

[4] NHGRI, Genome Technol Branch, NIH, Bethesda, MD 20892 USA

[5] Univ Dublin Trinity Coll, Dept Clin Med, Dublin 2, Ireland

来源：

JOURNAL OF HUMAN GENETICS | 2003年 / 48卷 / 04期

关键词：

MTHFR; A1298C; neural tube defects; C677T; linkage disequilibrium;

D O I：

10.1007/s10038-003-0008-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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：4

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