A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifida

✍ Scribed by Liselotte E. Jensen; Amelia M. Wall; Michelle Cook; Katy Hoess; Caroline F. Thorn; Alexander S. Whitehead; Laura E. Mitchell

• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 81 KB
• Volume: 70
• Category: Article
• ISSN: 1542-0752
• DOI: 10.1002/bdra.20023

✦ Synopsis

Abstract

BACKGROUND

There is compelling evidence that the risk of spina bifida, a malformation of the caudal neural tube, is associated with maternal and/or embryonic disturbances in folate/homocysteine metabolism. Hence, functional variants of genes that influence folate/homocysteine metabolism constitute a biologically plausible group of candidate risk factors for spina bifida and other neural tube defects. One such candidate is ABCC2, the gene encoding ABCC2, (a.k.a. canalicular multispecific organic anion transporter [cMOAT], multidrug resistance related protein 2 [MRP2]), a member of the ABC transporter family that effluxes natural folates and anti‐folate drugs such as methotrexate.

METHODS

The association between the risk of spina bifida and both the maternal and embryonic ABCC2 C(–24)T genotype was evaluated by using the transmission disequilibrium test and log‐linear modeling.

RESULTS

These analyses provided no evidence that the risk of spina bifida was significantly related to either the maternal or embryonic ABCC2 C(–24)T genotype.

CONCLUSIONS

The results of the present analyses suggest that the C(–24)T variant of the ABCC2 gene is not a major determinant of spina bifida risk. Birth Defects Research (Part A), 2004. © 2004 Wiley‐Liss, Inc.