Why some kids are shorter: a gene clue

Original Title

Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.

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Summary

Scientists looked at families where kids are much shorter than average and found a gene called VDR on chromosome 12 might be why. A tiny change in this gene (called rs10735810) was passed more often to the shorter kids.

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Surprising Findings

The G-allele of rs10735810 — known to be transcriptionally more active — was preferentially transmitted to shorter children, contrary to the assumption that more active vitamin D signaling would promote growth.

You’d expect a more active vitamin D receptor to help growth — but here, the 'stronger' version is linked to being shorter, flipping the script on vitamin D’s role.

Practical Takeaways

Parents of children with unexplained short stature might consider genetic testing for rs10735810 if available in clinical panels.

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Publication

Journal

Human molecular genetics

Year

2006

Authors

A. Dempfle, S. Wudy, K. Saar, S. Hagemann, S. Friedel, A. Scherag, L. Berthold, G. Alzen, L. Gortner, W. Blum, A. Hinney, P. Nürnberg, H. Schäfer, J. Hebebrand

Open Access
46 citations
Analysis v1