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Article

ECE1 polymorphisms may contribute to the susceptibility of sporadic congenital heart disease in a Chinese population.

DNA and cell biology - 1 Aug 2012

Wang Yu, Liu Yiming, Peng Wei, Wang Meilin, Sun Jian, Zhang Zhengdong, Mo Xuming

Abstract excerpt

Endothelin-converting enzyme-1 (ECE1) plays a key role in the development of a subset of neural crest lineages such as cardiogenesis. Genetic variants of ECE1 C338A (rs213045) and T839G (rs213046) have been shown to alter ECE1 expression. This observation led us to hypothesize that two polymorphisms might influence the susceptibility of sporadic congenital heart disease (CHD). We conducted a case-control study...

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Source

Identifiers

PMID: 22731820
DOI: 10.1089/dna.2012.1626

Genes

ECE1

Variants

rs213045
rs213045

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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