Health AI Central
Peer-Reviewed Publication
Cell2023;186(21):4514-4527.e14.October 12, 2023Journal Article

Influence of autozygosity on common disease risk across the phenotypic spectrum.

Daniel S Malawsky1, Eva van Walree2, Benjamin M Jacobs3, Teng Hiang Heng4, Qin Qin Huang4, Ataf H Sabir5, Saadia Rahman6, Saghira Malik Sharif7, Ahsan Khan8, Maša Umićević Mirkov9, , , Hiroyuki Kuwahara10, Xin Gao10, Fowzan S Alkuraya11, Danielle Posthuma12, William G Newman13, Christopher J Griffiths14, Rohini Mathur15, David A van Heel16, Sarah Finer3, Jared O'Connell17, Hilary C Martin18
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. Electronic address: dm22@sanger.ac.uk.
2Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Amsterdam, Amsterdam, the Netherlands.
3Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK; Wolfson Institute of Population Health, Queen Mary University of London, London, UK.
4Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
5West Midlands Regional Clinical Genetics Unit, Birmingham Women's and Children's NHS FT, Birmingham, UK; Institute of Cancer and Genomics, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
6Queen Square Institute of Neurology, University College London, London, UK.
7Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
8Waltham Forest Council, Waltham Forest Town Hall, Forest Road, Walthamstow E17 4JF, UK.
9Congenica Limited, BioData Innovation Centre, Wellcome Genome Campus, Hinxton, UK.
10King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal 23955, Saudi Arabia.
11Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
12Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Amsterdam, Amsterdam, the Netherlands.
13Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Human Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
14Wolfson Institute of Population Health, Queen Mary University of London, London, UK; MRC and Asthma UK Centre in Allergic Mechanisms of Asthma, King's College London, London, UK.
15Wolfson Institute of Population Health, Queen Mary University of London, London, UK.
16Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
1723andMe, Inc., Sunnyvale, CA, USA.
18Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. Electronic address: hcm@sanger.ac.uk.
PubMed PMC DOI PDF

Abstract

Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative traits. We investigated associations between the fraction of the genome in runs of homozygosity (FROH) and common diseases in Genes & Health (n = 23,978 British South Asians), UK Biobank (n = 397,184), and 23andMe. We show that restricting analysis to offspring of first cousins is an effective way of redu…

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