Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals

Qin Qin Huang, Neneh Sallah, Diana Dunca, Bhavi Trivedi, Karen A. Hunt, Sam Hodgson, Samuel A. Lambert, Elena Arciero, John Wright, Chris Griffiths, Richard C. Trembath, Harry Hemingway, Michael Inouye, Sarah Finer, David A. van Heel, R. Thomas Lumbers, Hilary C. Martin, Karoline Kuchenbaecker

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)

Abstract

Individuals with South Asian ancestry have a higher risk of heart disease than other groups but have been largely excluded from genetic research. Using data from 22,000 British Pakistani and Bangladeshi individuals with linked electronic health records from the Genes & Health cohort, we conducted genome-wide association studies of coronary artery disease and its key risk factors. Using power-adjusted transferability ratios, we found evidence for transferability for the majority of cardiometabolic loci powered to replicate. The performance of polygenic scores was high for lipids and blood pressure, but lower for BMI and coronary artery disease. Adding a polygenic score for coronary artery disease to clinical risk factors showed significant improvement in reclassification. In Mendelian randomisation using transferable loci as instruments, our findings were consistent with results in European-ancestry individuals. Taken together, trait-specific transferability of trait loci between populations is an important consideration with implications for risk prediction and causal inference.

Original languageEnglish
Article number4664
Pages (from-to)4664
Number of pages1
JournalNature Communications
Volume13
Issue number1
DOIs
Publication statusPublished - 9 Aug 2022

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