Last updated:
ID:
69675
Start date:
17 February 2021
Project status:
Current
Principal investigator:
Dr Zachary H Taxin
Lead institution:
Beth Israel Deaconess Medical Center, United States of America

DNA is the blueprint our body uses to manufacture proteins. Proteins carry out most of the important functions in the cell. Sometimes, small changes in the blueprint DNA can lead to changes in the proteins, which can change how our cell machinery works. We call these changes SNPs, or Single Nucleotide Polymorphisms, which means there is only one molecule of DNA that is different from most other copies of the gene. Some SNPs are more or less prevalent in different populations; other SNPs have strong correlations to specific disease states, such as diabetes and obesity. We have identified one SNP in a gene called APPBP2, whose function may be related to helping our body to burn more fat, use sugar more efficiently, and reduce inflammation. The SNP in APPBP2 is not common, yet it is represented in a substantial number of subjects in the UK Biobank (around 8,000 out of 480,000). We would like to analyze the health and biometric data from UK Biobank participants, to see whether there is a relationship between the SNP in APPBP2 and conditions like obesity or diabetes. If such a relationship exists, this would open up a new area of research in metabolism, and may provide targets to develop drugs to combat obesity and diabetes.