23andMe Announces A New Genetic Study On Pneumonia

23andMe announced that a new genetic study identified five regions in the human genome associated with susceptibility to pneumonia, a leading cause of death worldwide.

Published in the journal Nature Communications, the study also found a surprising link between the risk of pneumonia and psychiatric conditions, such as schizophrenia, bipolar disorder and major depression.

There are several types of pneumonia, but the most common involve bacterial or viral infection in the lungs. The condition can be deadly for those most physically vulnerable, particularly the elderly and young children. Many of those hospitalized for COVID-19 also end up having to be treated for pneumonia.

Five Genetic Regions

This study was led by researchers at the University of Newcastle in Australia. It included data from more than half a million individuals and is believed to be the largest genomic study of pneumonia ever done. The research included data from 23andMe customers who consented to participate in research and data from the FinnGen consortium.

The researchers identified five genetic regions associated with pneumonia. Among those were some previously identified associations within human leukocyte antigen (HLA) genes.

The HLA genes are the hundreds of genes on chromosome 6 that regulate the body’s immune system. The HLA gene also regulates the response to invading pathogens like viruses and bacteria.

Role of Inflammation

The team also found three new associations in genes related to inflammation and immunity. They also found another new association in the gene MUC5AC. The gene is in a cluster of genes that regulate the production of mucin proteins in the body. Mucin proteins make up mucus, the substance that lubricates and protects the linen of the airways, digestive, and reproductive system. The up-regulation of MUC5AC may exacerbate pneumonia by inducing inflammation in the airways.

According to the researchers, the link between the genetic risk for pneumonia and psychiatric conditions may be related to inflammation.

“I think it’s surprising, but in some ways, it’s not, as there are thought to be inflammatory risks for mental illness,” said Murray Cairns, one of the paper’s co-authors and a principal investigation at the University of Newcastle’s HMRI Precision Medicine Research Program. “(Inflammation) is a well-known risk factor for psychiatric illness, so it’s potentially a risk shared between those disorders.”

The researchers acknowledge that much more must be done to understand the link between pneumonia and mental illness. But within the paper, they hypothesize that the connection may be related to HLA genes and either their overresponse, inflammation, or inadequate response to an infection.

Understanding the role of this link with inflammation and the genetic associations for pneumonia could help find new treatments.

The article in the journal Nature Communications is titled: “The genetic architecture of pneumonia susceptibility implicates mucin biology and a relationship with psychiatric illnesses”. The abstract states:

Pneumonia remains one of the leading causes of death worldwide. In this study, we use genome-wide meta-analysis of lifetime pneumonia diagnosis… to identify four association signals outside of the previously implicated major histocompatibility complex region. Integrative analyses and finemapping of these signals support clinically tractable targets, including the MUC5AC and tumor necrosis factor receptor superfamily member TNFRSF1A. 

Moreover, we demonstrate widespread evidence of genetic overlap with pneumonia susceptibility across the human phenome, including particularly significant correlations with psychiatric phenotypes that remain significant after testing differing phenotype definitions for pneumonia or genetically conditioning on smoking behavior.

Finally, we show how polygenic risk could be utilized for precision treatment formulation or drug repurposing through pneumonia risk scores constructed using variants mapped to pathways with known drug targets.

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