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Approved Research

The impact of Ribosomal DNA (rDNA) copy number on birth weight and adult obesity

Principal Investigator: Professor Vardhman Rakyan
Approved Research ID: 83271
Approval date: April 21st 2022

Lay summary

There is a part of the human genome, called the ribosomal DNA (rDNA), that is important for making all proteins in the cell. It is present as hundreds of copies in the human genome and it is known that the number of copies of rDNA varies significantly amongst individuals. However, this variation in the rDNA is overlooked in all ongoing large-scale human genetic studies. Based on our preliminary human and mouse work, we think that rDNA copy number variation influences birth weight. Separately, we have evidence to suggest that rDNA copy number also has an influence on adult BMI, and we think that this is related to the birth weight effect. We would like to replicate and confirm our findings in a much bigger dataset i.e. the UK Biobank. The initial analyses will be complete well before the 36 months deadline. If we can replicate our initial findings using the UK Biobank data, it will represent a novel example of human genetic variation that influences important phenotypes, but has never been considered previously in powerful large-scale analyses.