Article
Functional variant in methionine synthase reductase intron-1 significantly increases the risk of congenital heart disease in the Han Chinese population.
Circulation - 24 Jan 2012
Zhao Jian-Yuan, Yang Xue-Yan, Gong Xiao-Hong, Gu Zhuo-Ya, Duan Wen-Yuan, Wang Jue, Ye Zhi-Zhou, Shen Hong-Bing, Shi Kai-Hu, Hou Jia, Huang Guo-Ying, Jin Li, Qiao Bin, Wang Hong-Yan
Abstract excerpt
BACKGROUND: Homocysteine is known to be an independent risk factor for congenital heart disease (CHD). Methionine synthase reductase (MTRR) is essential for the adequate remethylation of homocysteine, which is the dominant pathway for homocysteine removal during early embryonic development. METHODS AND RESULTS: Here, we report that the c.56+781 A>C (rs326119) variant of intron-1 of MTRR significantly increases...
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