Genetic architecture of routinely acquired blood tests in a British South Asian cohort

Benjamin M. Jacobs, Daniel Stow, Sam Hodgson, Julia Zöllner, Miriam Samuel, Stavroula Kanoni, Saeed Bidi, Klaudia Walter, Claudia Langenberg, Ruth Dobson, Sarah Finer, Caroline Morton, Moneeza K. Siddiqui, Hilary C. Martin, Maik Pietzner, Rohini Mathur and David A. Heel ()
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Benjamin M. Jacobs: Queen Mary University of London
Daniel Stow: Queen Mary University of London
Sam Hodgson: Queen Mary University of London
Julia Zöllner: Queen Mary University of London
Miriam Samuel: Queen Mary University of London
Stavroula Kanoni: Queen Mary University of London
Saeed Bidi: Queen Mary University of London
Klaudia Walter: Wellcome Genome Campus
Claudia Langenberg: Queen Mary University of London
Ruth Dobson: Queen Mary University of London
Sarah Finer: Queen Mary University of London
Caroline Morton: Queen Mary University of London
Moneeza K. Siddiqui: Queen Mary University of London
Hilary C. Martin: Wellcome Genome Campus
Maik Pietzner: Queen Mary University of London
Rohini Mathur: Queen Mary University of London
David A. Heel: Queen Mary University of London

Nature Communications, 2024, vol. 15, issue 1, 1-12

Abstract: Abstract Understanding the genetic basis of routinely-acquired blood tests can provide insights into several aspects of human physiology. We report a genome-wide association study of 42 quantitative blood test traits defined using Electronic Healthcare Records (EHRs) of ~50,000 British Bangladeshi and British Pakistani adults. We demonstrate a causal variant within the PIEZO1 locus which was associated with alterations in red cell traits and glycated haemoglobin. Conditional analysis and within-ancestry fine mapping confirmed that this signal is driven by a missense variant - chr16-88716656-G-TT - which is common in South Asian ancestries (MAF 3.9%) but ultra-rare in other ancestries. Carriers of the T allele had lower mean HbA1c values, lower HbA1c values for a given level of random or fasting glucose, and delayed diagnosis of Type 2 Diabetes Mellitus. Our results shed light on the genetic basis of clinically-relevant traits in an under-represented population, and emphasise the importance of ancestral diversity in genetic studies.

Date: 2024
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DOI: 10.1038/s41467-024-53091-x

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