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  1. No Access

    Article

    Adaptive selection at G6PD and disparities in diabetes complications

    Diabetes complications occur at higher rates in individuals of African ancestry. Glucose-6-phosphate dehydrogenase deficiency (G6PDdef), common in some African populations, confers malaria resistance, and redu...

    Joseph H. Breeyear, Jacklyn N. Hellwege, Philip H. Schroeder in Nature Medicine (2024)

  2. Article

    Open Access

    Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study

    The clinical utility of genetic information for type 2 diabetes (T2D) prediction with polygenic scores (PGS) in ancestrally diverse, real-world US healthcare systems is unclear, especially for those at low cli...

    Ravi Mandla, Philip Schroeder, Bianca Porneala, Jose C. Florez in Genome Medicine (2024)

  3. Article

    Open Access

    Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

    Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes1,2 and molecular mechanisms that are often specific to cell type3,4. Here, to characterize the genetic c...

    Ken Suzuki, Konstantinos Hatzikotoulas, Lorraine Southam, Henry J. Taylor in Nature (2024)

  4. Article

    Open Access

    Precision subclassification of type 2 diabetes: a systematic review

    Heterogeneity in type 2 diabetes presentation and progression suggests that precision medicine interventions could improve clinical outcomes. We undertook a systematic review to determine whether strategies to...

    Shivani Misra, Robert Wagner, Bige Ozkan, Martin Schön in Communications Medicine (2023)

  5. Article

    Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine

    Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical decisions and health recommendations. Diabetes ...

    Deirdre K. Tobias, Jordi Merino, Abrar Ahmad, Catherine Aiken in Nature Medicine (2023)

  6. Article

    Open Access

    The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes

    The Latino population has been systematically underrepresented in large-scale genetic analyses, and previous studies have relied on the imputation of ungenotyped variants based on the 1000 Genomes (1000G) impu...

    Alicia Huerta-Chagoya, Philip Schroeder, Ravi Mandla, Aaron J. Deutsch in Diabetologia (2023)

  7. Article

    Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH

    Characterisation of genetic variation that influences the response to glucose-lowering medications is instrumental to precision medicine for treatment of type 2 diabetes. The Study to Understand the Genetics o...

    Josephine H. Li, Laura N. Brenner, Varinderpal Kaur, Katherine Figueroa in Diabetologia (2023)

  8. No Access

    Article

    A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels

    Polygenic scores (PGSs) combine the effects of common genetic variants1,2 to predict risk or treatment strategies for complex diseases37. Adding rare variation to PGSs has largely unknown benefits and is methodi...

    Peter Dornbos, Ryan Koesterer, Andrew Ruttenburg, Trang Nguyen in Nature Genetics (2022)

  9. Article

    Open Access

    Proteomic analysis of cardiometabolic biomarkers and predictive modeling of severe outcomes in patients hospitalized with COVID-19

    The high heterogeneity in the symptoms and severity of COVID-19 makes it challenging to identify high-risk patients early in the disease. Cardiometabolic comorbidities have shown strong associations with COVID...

    Philip H. Schroeder, Laura N. Brenner, Varinderpal Kaur in Cardiovascular Diabetology (2022)

  10. Article

    Open Access

    Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations

    Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic and environmental risk factors that disproportionately afflicts communities of color. Leveraging existing large-scale genome-wide association...

    Tian Ge, Marguerite R. Irvin, Amit Patki, Vinodh Srinivasasainagendra in Genome Medicine (2022)

  11. Article

    Open Access

    Association between muscle mass and diabetes prevalence independent of body fat distribution in adults under 50 years old

    Although relatively less muscle mass has been associated with greater diabetes prevalence, whether there is an association between muscle mass and diabetes prevalence independent of body fat distribution is un...

    Melanie S. Haines, Aaron Leong, Bianca C. Porneala, James B. Meigs in Nutrition & Diabetes (2022)

  12. No Access

    Article

    Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

    We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the...

    Anubha Mahajan, Cassandra N. Spracklen, Weihua Zhang, Maggie C. Y. Ng in Nature Genetics (2022)

  13. No Access

    Article

    The trans-ancestral genomic architecture of glycemic traits

    Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregate...

    Ji Chen, Cassandra N. Spracklen, Gaëlle Marenne, Arushi Varshney in Nature Genetics (2021)

  14. Article

    Open Access

    The impact of non-additive genetic associations on age-related complex diseases

    Genome-wide association studies (GWAS) are not fully comprehensive, as current strategies typically test only the additive model, exclude the X chromosome, and use only one reference panel for genotype imputat...

    Marta Guindo-Martínez, Ramon Amela, Silvia Bonàs-Guarch in Nature Communications (2021)

  15. No Access

    Article

    Statin-induced LDL cholesterol response and type 2 diabetes: a bidirectional two-sample Mendelian randomization study

    It remains unclear whether the increased risk of new-onset type 2 diabetes (T2D) seen in statin users is due to low LDL-C concentrations, or due to the statin-induced proportional change in LDL-C. In addition,...

    Roelof A. J. Smit, Stella Trompet, Aaron Leong in The Pharmacogenomics Journal (2020)

  16. Article

    Metabolomics insights into early type 2 diabetes pathogenesis and detection in individuals with normal fasting glucose

    Identifying the metabolite profile of individuals with normal fasting glucose (NFG [<5.55 mmol/l]) who progressed to type 2 diabetes may give novel insights into early type 2 diabetes disease interception and ...

    Jordi Merino, Aaron Leong, Ching-Ti Liu, Bianca Porneala in Diabetologia (2018)

  17. Article

    Open Access

    Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

    In the originally published version of this Article, the affiliation details for Santi González, Jian’an Luan and Claudia Langenberg were inadvertently omitted. Santi González should have been affiliated with ...

    Sílvia Bonàs-Guarch, Marta Guindo-Martínez, Irene Miguel-Escalada in Nature Communications (2018)

  18. Article

    Open Access

    Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

    The reanalysis of existing GWAS data represents a powerful and cost-effective opportunity to gain insights into the genetics of complex diseases. By reanalyzing publicly available type 2 diabetes (T2D) genome-...

    Sílvia Bonàs-Guarch, Marta Guindo-Martínez, Irene Miguel-Escalada in Nature Communications (2018)

  19. No Access

    Article

    A Decade of Genetic and Metabolomic Contributions to Type 2 Diabetes Risk Prediction

    The purpose of this review was to summarize and reflect on advances over the past decade in human genetic and metabolomic discovery with particular focus on their contributions to type 2 diabetes (T2D) risk pr...

    Jordi Merino, Miriam S. Udler, Aaron Leong, James B. Meigs in Current Diabetes Reports (2017)

  20. Article

    Open Access

    A Mendelian randomization study of the effect of type-2 diabetes on coronary heart disease

    In observational studies, type-2 diabetes (T2D) is associated with an increased risk of coronary heart disease (CHD), yet interventional trials have shown no clear effect of glucose-lowering on CHD. Confoundin...

    Omar S. Ahmad, John A. Morris, Muhammad Mujammami in Nature Communications (2015)

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