80 Result(s)

Article

Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores

We construct non-linear machine learning (ML) prediction models for systolic and diastolic blood pressure (SBP, DBP) using demographic and clinical variables and polygenic risk scores (PRSs). We developed a tw...

Yana Hrytsenko, Benjamin Shea, Michael Elgart, Nuzulul Kurniansyah… in Scientific Reports (2024)

Article

Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

Hypertension affects more than one billion people worldwide. Here we identify 113 novel loci, reporting a total of 2,103 independent genetic signals (P < 5 × 10⁻⁸) from the largest single-stage blood pressure (BP...

Jacob M. Keaton, Zoha Kamali, Tian **e, Ahmad Vaez, Ariel Williams… in Nature Genetics (2024)

Article

An approach to identify gene-environment interactions and reveal new biological insight in complex traits

There is a long-standing debate about the magnitude of the contribution of gene-environment interactions to phenotypic variations of complex traits owing to the low statistical power and few reported interacti...

**aofeng Zhu, Yihe Yang, Noah Lorincz-Comi, Gen Li, Amy R. Bentley… in Nature Communications (2024)

Article

Multi-tissue epigenetic analysis identifies distinct associations underlying insulin resistance and Alzheimer’s disease at CPT1A locus

Insulin resistance (IR) is a major risk factor for Alzheimer’s disease (AD) dementia. The mechanisms by which IR predisposes to AD are not well-understood. Epigenetic studies may help identify molecular signat...

Chloé Sarnowski, Tianxiao Huan, Yiyi Ma, Roby Joehanes… in Clinical Epigenetics (2023)

Article

Author Correction: Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations

Elena V. Feofanova, Michael R. Brown, Taryn Alkis… in Nature Communications (2023)

Article

Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Nick Shrine, Abril G. Izquierdo, **g Chen, Richard Packer… in Nature Genetics (2023)

Article

Genetic insights into resting heart rate and its role in cardiovascular disease

Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associate...

Yordi J. van de Vegte, Ruben N. Ep**a, M. Yldau van der Ende… in Nature Communications (2023)

Article

Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups

We assess performance and limitations of polygenic risk scores (PRSs) for multiple blood pressure (BP) phenotypes in diverse population groups. We compare “clum**-and-thresholding” (PRSice2) and LD-based (LD...

Nuzulul Kurniansyah, Matthew O. Goodman, Alyna T. Khan… in Nature Communications (2023)

Article

Author Correction: The power of genetic diversity in genome-wide association studies of lipids

Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni… in Nature (2023)

Article

Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations

Circulating metabolite levels may reflect the state of the human organism in health and disease, however, the genetic architecture of metabolites is not fully understood. We have performed a whole-genome seque...

Elena V. Feofanova, Michael R. Brown, Taryn Alkis… in Nature Communications (2023)

Article

Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease

The 3-dimensional spatial and 2-dimensional frontal QRS-T angles are measures derived from the vectorcardiogram. They are independent risk predictors for arrhythmia, but the underlying biology is unknown. Usin...

William J. Young, Jeffrey Haessler, Jan-Walter Benjamins… in Nature Communications (2023)

Article

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising ...

Nick Shrine, Abril G. Izquierdo, **g Chen, Richard Packer… in Nature Genetics (2023)

Article

Proteomic analysis of diabetes genetic risk scores identifies complement C2 and neuropilin-2 as predictors of type 2 diabetes: the Atherosclerosis Risk in Communities (ARIC) Study

Genetic predisposition to type 2 diabetes is well-established, and genetic risk scores (GRS) have been developed that capture heritable liabilities for type 2 diabetes phenotypes. However, the proteins through...

Brian T. Steffen, Weihong Tang, Pamela L. Lutsey, Ryan T. Demmer… in Diabetologia (2023)

Article

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understandi...

Stavroula Kanoni, Sarah E. Graham, Yuxuan Wang, Ida Surakka… in Genome Biology (2022)

Article

Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare bl...

Marsha M. Wheeler, Adrienne M. Stilp, Shuquan Rao… in Nature Communications (2022)

Article

Genetic diversity fuels gene discovery for tobacco and alcohol use

Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury^1–4. These substances are used across the...

Gretchen R. B. Saunders, **ngyan Wang, Fang Chen, Seon-Kyeong Jang, Mengzhen Liu… in Nature (2022)