What is it about?

Some genes are known to affect the risk of having a child with cleft lip directly (i.e., if the child has a certain variant of the gene, the risk increases or decreases), whereas other genes only affect the risk via more complex interactions. For example, some variants are only relevant if the mother ha a certain lifestyle or diet (gene-environment interaction), and other variants only affect risk if they are inherited from one parent but not the other (parent-of-origin). We have detected genes where the parent-of-origin effect on the risk of cleft lip depends on the mother's consumption of tobacco, alcohol and vitamin supplements during the first months of pregnancy.

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Why is it important?

It is very likely that cleft lip has a strong genetic component. For example, the risk of having a child with cleft lip is about 40 times higher if one parent also has cleft lip, and twin studies have found a heritability of more than 70%. Still, genes discovered this far only account for a small fraction of these numbers, highlighting the need to investigate more complex disease mechanisms. Understanding such mechanism is important for the development of future interventions. For example, it could be possible to give lifestyle recommendations to mothers based on the genetic profiles of them and their partners.


My co-authors and I have written a series of papers on the subject of complex disease mechanism of oral clefts, of which this is the final. I now look forward to moving on towards the effects of interaction between genes and DNA methylation.

Øystein Ariansen Haaland
University of Bergen, Norway

Read the Original

This page is a summary of: A genome-wide scan of cleft lip triads identifies parent-of-origin interaction effects between ANK3 and maternal smoking, and between ARHGEF10 and alcohol consumption, F1000Research, July 2019, Faculty of 1000, Ltd., DOI: 10.12688/f1000research.19571.2.
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