当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects.

Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects.

Abstract：

:Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B(12) (B(12)) dependent enzymes in humans. A lower level of B(12) has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B(12) dependent enzymes. To investigate the role of methylmalonyl-CoA mutase variants we studied 279 complete NTD triads (NTD affected case and both parents) and 256 controls. Based on case-control and family based (transmission disequilibrium test) analyses we did not find an association between the mutase single nucleotide polymorphisms (SNPs) K212K (636A-->G), H532R (1595A-->G) and V671I (2011G-->A) and NTDs. However, there was a significant difference in the frequencies of these polymorphisms between a group of African Americans and American Caucasians (K212K, P=0.002; H532R, P

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Parle-McDermott A,McManus EJ,Mills JL,O'Leary VB,Pangilinan F,Cox C,Weiler A,Molloy AM,Conley M,Watson D,Scott JM,Brody LC,Kirke PN,Birth Defects Research Group.

doi

10.1016/j.ymgme.2003.09.009

subject

Has Abstract

pub_date

2003-12-01 00:00:00

pages

463-8

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096719203002075

journal_volume

80

pub_type

杂志文章

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