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Approved Research

Cross sectional study exploring the effect of the Atg16L1 rs2241880 SNP (T300A) on respiratory infection incidence, respiratory and cardiovascular health of the UK Biobank population.

Principal Investigator: Miss Maria Ramos
Approved Research ID: 105295
Approval date: August 31st 2023

Lay summary

We aim to find out if people carrying small mutations, known as single nucleotide polymorphisms or SNPs, have an increased risk of responding badly to respiratory infections and if this has an impact on overall respiratory health. The recent SARS-CoV-2 pandemic has highlighted the high social and economic cost of respiratory viruses, and thus the urgent need to be able to identify people at higher risk so that they can receive priority for treatment

The gene I'm interested is called Atg16L1 and has an important role in fighting off microbial infections. In mice, ATG16L1 has been shown to protect against acute influenza virus infection, by preventing virus from escaping into the lungs where it causes inflammation. It is known that mutations in Atg16L1 increase susceptibility of humans to inflammation of the gut during Crohn's disease We think mutations in Atg16L1 could also affect the ability of humans to control inflammation during respiratory infection. Currently most studies on individuals carrying the Atg16L1 SNP are focused on Crohn's disease and gut microbiome, and there is limited to no data on human studies looking at viral and bacterial respiratory infection incidence, or how this SNP affects the overall respiratory and cardiovascular health in these individuals.

With this project, I want to explore if people with a SNP in Atg16L1 have increased risk of worse outcomes following viral and bacterial pneumonia, and if this leads to worse overall respiratory and cardiovascular health. If this proves to be the case, people that have these SNPs can be identified and offered early access to vaccinations and be given priority and earlier treatment if required. For the NHS, early or preventive treatment will reduce how long a person will have to stay in hospital and can save the NHS both time and money.