The SNP rs4252548 (R112H) which is associated with reduced human height compromises the stability of IL-11.

doi:10.1016/j.bbamcr.2017.12.003

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Article

The SNP rs4252548 (R112H) which is associated with reduced human height compromises the stability of IL-11.

Biochimica et biophysica acta. Molecular cell research - 1 Mar 2018

Lokau Juliane, Göttert Sascha, Arnold Philipp, Düsterhöft Stefan, Massa López David, Grötzinger Joachim, Garbers Christoph

Abstract excerpt

Height is a complex human phenotype that is influenced by variations in a high number of genes. Recently, a single nucleotide polymorphism (SNP) within IL11 (rs4252548) has been described to be associated with height in adults of European ancestry. This coding SNP leads to the exchange of Arg-112 to His-112 within the cytokine Interleukin-11 (IL-11), which has a well-established role in osteoclast development and...

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PMID: 29237553
DOI: 10.1016/j.bbamcr.2017.12.003

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