Linking genetics and age-related diseases

Researchers have used human medical and genetic data from UK Biobank to investigate the genetics of age-related diseases

Genetics of ageing
Genetics of ageing

Researchers at EMBL’s European Bioinformatics Institute (EMBL-EBI) and University College London (UCL) have analysed medical and genetic information openly available from UK Biobank to investigate the genetic associations of different age-related diseases.

Old age is associated with an increased risk of many diseases. As the average human lifespan increases, ageing is fast becoming a global challenge. Researchers are working to understand the genetics underlying ageing and the variations that may lead to age-related diseases.

A study published in the journal Nature Aging uses data from UK Biobank to investigate the genetic associations of 116 diseases, including cardiovascular and gastrointestinal diseases, anaemia, deep vein thrombosis, thyroid problems, and depression. The researchers grouped these diseases based on their age of onset to define the relationship between disease incidence and age. This revealed genetic links between diseases with the same onset profile, suggesting that they may share a common cause.

Access to human data

UK Biobank is a biomedical database that houses data from half a million people in the UK, who regularly provide blood, urine, and saliva samples, as well as detailed information about their lifestyle and the onset of any diseases. The database – the largest of its kind – is openly available to researchers working towards new scientific discoveries that may improve public health.

“Having access to human health and genetic data made this study possible. We couldn’t have done anything like this without UK Biobank,” says Janet Thornton, Director Emeritus of EMBL-EBI. “Many studies have used model organisms to look at ageing and disease, but humans are so much more complicated. If you really want to know about human ageing, you need access to human data.”

“The unique power of the Biobank data has allowed us to uncover some of the mechanisms linking so many diseases to advancing age, opening the way to their prevention,” says Linda Partridge, Professorial Research Fellow at UCL.

The genetics of ageing

This study uses a novel approach developed by Melike Dönertaş, Postdoctoral fellow at EMBL-EBI and first author on the paper, to define a link between genetics and the onset of age-related diseases. The research provides the first data-driven classification of multiple diseases according to their age profile, coupled with genetic analysis of the data on the large cohort of participants in UK Biobank.

“There haven’t been many studies that look at multiple diseases to see whether they have common genetic causes, so this was the motivation behind this study,” says Melike. “We grouped diseases into age-of-onset profiles and found that diseases with similar profiles are also genetically very similar. We could also see that this shared genetics was associated with ageing.”

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