MRC Human Genetics Unit
Medical Research Council Human Genetics Unit


Mum or dad? Parent-of-origin effects on metabolic traits

Methylation differences linked to parent of origin effects on multiple traits

Individual differences in human characteristics and diseases are influenced by genetic differences, or 'variants'. For a few important genes, their influence also depends on the sex of the parent from which they were inherited, a so-called “parent-of-origin” effect. Only about 1% of genes were known to work in this way.

One way in which a parent of origin effect operates is through a chemical modification of DNA termed methylation. This modification affects specific regions of the genetic material differently depending on whether they were inherited from the mother or the father and can change the way that a gene is controlled and hence the impact it has on the individual that inherits it.

Professor Chris Haley and colleagues studied DNA methylation in people who were part of a study called Generation Scotland: The Scottish Family Health Study (GS:SFHS). They found over 300 previously unknown regions of DNA showing  a parent-of-origin effect, as well as confirming other known regions.

DNA changes in some of these regions were associated with individual differences for a range of characteristics relevant to health, including obesity related traits, particularly waist size. Their approach is a new way to identify pathways of potential importance for understanding causes of obesity. This approach could be used in other populations and for other characteristics related to disease that would help understand parent-of-origin effects and identify new disease-associated genes that may not be detected by other approaches.



Haley research group

Generation Scotland

Original research paper: