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Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

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  1. The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  2. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

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  3. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

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  4. Human Disease Variation in the Light of Population Genomics

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  5. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

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  1. The Polygenic and Monogenic Basis of Blood Traits and Diseases

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Cardiac Troponin I and Incident Stroke in European Cohorts: Insights From the BiomarCaRE Project

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  3. Evaluation of Serum Insulin-like Factor 3 Quantification by LC-MS/MS as a Biomarker of Leydig Cell Function

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  4. Does Estimated Pulse Wave Velocity Add Prognostic Information? MORGAM Prospective Cohort Project

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Most loci identified by GWASs have been found in populations of European ancestry (EUR). In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including 184,535 non-EUR individuals, we identified 5,552 trait-variant associations at p < 5 × 10-9, including 71 novel associations not found in EUR populations. We also identified 28 additional novel variants in ancestry-specific, non-EUR meta-analyses, including an IL7 missense variant in South Asians associated with lymphocyte count in vivo and IL-7 secretion levels in vitro. Fine-mapping prioritized variants annotated as functional and generated 95% credible sets that were 30% smaller when using the trans-ethnic as opposed to the EUR-only results. We explored the clinical significance and predictive value of trans-ethnic variants in multiple populations and compared genetic architecture and the effect of natural selection on these blood phenotypes between populations. Altogether, our results for hematological traits highlight the value of a more global representation of populations in genetic studies.

Original languageEnglish
JournalCell
Volume182
Issue number5
Pages (from-to)1198-1213.e14
ISSN0092-8674
DOIs
Publication statusPublished - 3 Sep 2020

ID: 60818141