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Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida.


ABSTRACT:

Background

Moderate hyperhomocysteinemia is a known risk factor for NTDs in a variety of experimental model systems and is believed to be important in humans as well. The enzyme nicotinamide N-methyl transferase (NNMT) was identified in a genome-wide linkage scan as being an important regulator of homocysteine homeostasis in a Spanish population, making it an interesting candidate gene for NTDs.

Methods

We evaluated 11 SNPs (single nucleotide polymorphism) of the NNMT gene in our study population. In this study, 252 cases (infants with spina bifida) and 335 controls (nonmalformed infants), born during the period 1983-1986 in selected counties in California, were genotyped for variants of the NNMT gene. Allelic, genotype, and haplotype associations with spina bifida risk were

SUBMITTER: Lu W 

PROVIDER: S-EPMC2630518 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature