Functional variant in methionine synthase reductase intron-1 significantly increases the risk of congenital heart disease in the Han Chinese population.

Abstract

We have demonstrated that the MTRR c.56+781 A>C variant is an important genetic marker for increased CHD risk because this variant results in functionally reduced MTRR expression at the transcriptional level.

Our results accentuate the significance of functional single-nucleotide polymorphisms in noncoding regions of the homocysteine/folate metabolism pathway core genes for their potential contributions to the origin of CHD.

Full Text

DOI - Circulation (DOI)
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Subjects

Authors

Publication date

2012-01-24

Journal

Circulation
Circulation (1524-4539)

Journal topics

Language

Eng.

Copyright

Circulation

State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.

Release reference

Circulation. 2012 Jan;125(3):482-90