Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India.

Abstract

AIM:

To investigate the role of four parental folate pathway single nucleotide polymorphisms (SNPs) i.e., methylene tetrahydrofolate reductase (MTHFR) 677C>T, MTHFR 1298A>C, methionine synthase reductase (MTRR) 66A>G and glutamate carboxypeptidase (GCP) II 1561C>T on susceptibility to neural tube defects (NTDs) in 50 couples with NTD offspring and 80 couples with normal pregnancy outcome.

RESULTS:

Maternal MTHFR 677C-->T (odds ratio (OR): 2.69, 95% confidence interval (CI): 1.35-5.34) and parental GCP II 1561C-->T (maternal: OR: 1.89, 95% CI: 1.12-3.21 and paternal: OR: 3.23, 95% CI: 1.76-5.93) were found to be risk factors for a NTD. Both paternal and maternal GCP II T-variant alleles were found to interact with MTHFR 677T- and MTRR G-variant alleles in increasing the risk for NTD. Segregation of data based on type of defect revealed an association between maternal 677T-allele and meningomyelocele (OR: 9.00, 95% CI: 3.77-21.55, P<0.0001) and an association between parental GCP II 1561T-allele and anencephaly (maternal: OR: 2.25, 95% CI: 1.12-4.50, P<0.05 and paternal: OR: 4.26, 95% CI: 2.01-9.09, P<0.001).

CONCLUSIONS:

Maternal MTHFR C677T and parental GCP II C1561T polymorphisms are associated with increased risk for NTDs. Apart from individual genetic effects, epistatic interactions were also observed.

• Authors: Shaik Mohammad Naushad, Akella Radha Rama Devi
• Journal: Journal of perinatal medicine (J Perinat Med) Vol. 38 Issue 1 Pg. 63-9 ( 2010) ISSN: 1619-3997 [Electronic] Germany
• PMID: 20047525 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Folic Acid
• methionine synthase reductase
• Ferredoxin-NADP Reductase
• Methylenetetrahydrofolate Reductase (NADPH2)
• Carboxypeptidases
• glutamate carboxypeptidase

Topics

• Adult
• Carboxypeptidases (genetics)
• Case-Control Studies
• Female
• Ferredoxin-NADP Reductase (genetics)
• Folic Acid (metabolism)
• Genetic Predisposition to Disease
• Humans
• India
• Male
• Methylenetetrahydrofolate Reductase (NADPH2) (genetics)
• Neural Tube Defects (genetics, metabolism)
• Polymorphism, Single Nucleotide
• Young Adult