4.8 Article

Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels

Pirro G. Hysi et al.

Summary: This study conducted a genome-wide association study on the levels of circulating metabolites in European subjects, identifying 202 unique genomic regions associated with 478 different metabolites. The replication study confirmed the robustness of these associations and discovered 74 novel genomic regions not previously associated with any metabolites.

METABOLITES (2022)

Article Genetics & Heredity

Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites

Lorenzo Bomba et al.

Summary: Metabolite levels measured in the human population were analyzed to identify associations with rare genetic variants. The study identified 40 novel associations, of which 28 were replicated, between rare coding variants and metabolite levels. Algorithms were developed to prioritize driver variants and statistical analyses were used to test the directionality of associations between metabolite and protein levels. The study found that 66% of reported associations involved gene targets of approved drugs or bioactive drug-like compounds, validating efforts in drug target research.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

Article Endocrinology & Metabolism

Identifying Causes of Fracture Beyond Bone Mineral Density: Evidence From Human Genetics

Tianyuan Lu et al.

Summary: New research identifies genetic loci associated with fracture risk, with only a few of them showing genetic effects independent of bone mineral density (BMD). Non-BMD genetic effects may be correlated with hip bone size, but not closely associated with traditional clinical risk factors. Genetic risk scores based on non-BMD and BMD-related effects are both associated with increased major osteoporotic fracture risk, but the latter has a stronger correlation.

JOURNAL OF BONE AND MINERAL RESEARCH (2022)

Article Medicine, General & Internal

Cohort profile: genomic data for 26 622 individuals from the Canadian Longitudinal Study on Aging (CLSA)

Vincenzo Forgetta et al.

Summary: The Canadian Longitudinal Study on Aging (CLSA) Comprehensive cohort collected genomic data from 26,622 individuals aged 45-85 to study the genetic and environmental contributions to human disease and aging process. The data revealed novel loci associated with glaucoma and validated the use of polygenic risk score in identifying individuals at high fracture risk. Future studies will focus on genetic factors in cognitive decline and cardiovascular diseases.

BMJ OPEN (2022)

Review Biochemistry & Molecular Biology

An emerging potential of metabolomics in multiple sclerosis: a comprehensive overview

Insha Zahoor et al.

Summary: Multiple sclerosis is an inflammatory demyelinating disease of the nervous system that primarily affects young adults, with alterations in the metabolome contributing to the disease progression. Metabolomics studies offer insights into disease pathophysiology, therapeutic strategies, and identification of unique markers indicative of treatment responses. The research suggests that metabolic profiling of MS patient samples may uncover biomarkers that improve early therapeutic interventions and evaluation of treatment responses.

CELLULAR AND MOLECULAR LIFE SCIENCES (2021)

Article Genetics & Heredity

Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction

Perline A. Demange et al.

Summary: Genomic structural equation modeling was used to estimate the genetic component of educational attainment independent of cognitive ability, finding that 57% of genetic variation in educational attainment is attributed to noncognitive skills. The study identified significant loci and a polygenic architecture contributing to educational attainment, with noncognitive genetics showing associations with personality traits, behavior, and psychiatric disorders. Noncognitive and cognitive-performance genetics were found to be similarly associated with socioeconomic success and longevity.

NATURE GENETICS (2021)

Article Genetics & Heredity

A cross-platform approach identifies genetic regulators of human metabolism and health

Luca A. Lotta et al.

Summary: By conducting a cross-platform analysis of metabolites, we identified various genetic regulators associated with metabolite levels, including their impact on diseases such as type 2 diabetes and macular telangiectasia type 2.

NATURE GENETICS (2021)

Review Medicine, General & Internal

Strengthening the Reporting of Observational Studies in Epidemiology Using Mendelian Randomization: The STROBE-MR Statement

Veronika W. Skrivankova et al.

Summary: The STROBE-MR Statement was developed to guide the reporting of MR studies by providing a checklist tailored to MR studies, which could improve the evaluation and interpretation of these studies by editors, peer reviewers, researchers, clinicians, and other readers.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2021)

Article Multidisciplinary Sciences

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Daniel Taliun et al.

Summary: The TOPMed program aims to study the genetic architecture and biology of heart, lung, blood, and sleep disorders to improve diagnosis, treatment, and prevention of these diseases. Resources include a variant browser, genotype imputation server, and genomic and phenotypic data available through dbGaP. The study detected a large number of rare genetic variants, providing insights into mutation processes and recent human evolutionary history.

NATURE (2021)

Article Biochemistry & Molecular Biology

Plasma metabolites to profile pathways in noncommunicable disease multimorbidity

Maik Pietzner et al.

Summary: The study identified shared pathways contributing to the multimorbidity of noncommunicable diseases using untargeted metabolomics profiling and integrated various risk factors and characteristics to identify actionable shared pathways.

NATURE MEDICINE (2021)

Article Medicine, General & Internal

Strengthening the reporting of observational studies in epidemiology using mendelian randomisation (STROBE-MR): explanation and elaboration

Veronika W. Skrivankova et al.

Summary: Mendelian randomisation (MR) studies provide insights into causal effects of modifiable exposures on health outcomes, but are often hindered by inadequate reporting. Reporting guidelines like STROBE-MR help authors communicate critical information clearly and transparently, aiding in evaluating the quality of published studies for readers, reviewers, and journal editors.

BMJ-BRITISH MEDICAL JOURNAL (2021)

Article Multidisciplinary Sciences

Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

Joshua Chiou et al.

Summary: Genome-wide association studies of type 1 diabetes identified risk variants that were enriched in specific cell types, including cells of the exocrine pancreas. The study highlights the role of the exocrine pancreas in the pathogenesis of T1D and underscores the importance of large-scale genetic studies and single-cell epigenomics in understanding complex diseases.

NATURE (2021)

Article Biochemistry & Molecular Biology

PubChem in 2021: new data content and improved web interfaces

Sunghwan Kim et al.

Summary: PubChem, a popular chemical information resource, has made substantial improvements in the past two years by adding data from over 100 new sources, updating its homepage and record pages, introducing new services like the Periodic Table and Pathway pages, and creating a special data collection related to COVID-19 and SARS-CoV-2 in response to the pandemic.

NUCLEIC ACIDS RESEARCH (2021)

Article Endocrinology & Metabolism

BMD-Related Genetic Risk Scores Predict Site-Specific Fractures as Well as Trabecular and Cortical Bone Microstructure

Maria Nethander et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

The Relationship Between Body Mass Index and Bone Mineral Density: A Mendelian Randomization Study

Jidong Song et al.

CALCIFIED TISSUE INTERNATIONAL (2020)

Article Multidisciplinary Sciences

The GTEx Consortium atlas of genetic regulatory effects across human tissues

Francois Aguet et al.

SCIENCE (2020)

Article Multidisciplinary Sciences

A reference map of potential determinants for the human serum metabolome

Noam Bar et al.

NATURE (2020)

Article Biochemistry & Molecular Biology

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

Sara L. Pulit et al.

HUMAN MOLECULAR GENETICS (2019)

Article Biochemistry & Molecular Biology

ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci

David Stacey et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemical Research Methods

PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations

Mihir A. Kamat et al.

BIOINFORMATICS (2019)

Article Public, Environmental & Occupational Health

Cohort Profile: The Canadian Longitudinal Study on Aging (CLSA)

Parminder Raina et al.

INTERNATIONAL JOURNAL OF EPIDEMIOLOGY (2019)

Article Multidisciplinary Sciences

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

Nikolas A. Patsopoulos et al.

SCIENCE (2019)

Article Genetics & Heredity

A resource-efficient tool for mixed model association analysis of large-scale data

Longda Jiang et al.

NATURE GENETICS (2019)

Article Multidisciplinary Sciences

A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context

Apolline Gallois et al.

NATURE COMMUNICATIONS (2019)

Article Genetics & Heredity

An atlas of genetic influences on osteoporosis in humans and mice

John A. Morris et al.

NATURE GENETICS (2019)

Article Biochemistry & Molecular Biology

OMIM.org: leveraging knowledge across phenotype-gene relationships

Joanna S. Amberger et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

DrugBank 5.0: a major update to the DrugBank database for 2018

David S. Wishart et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Biochemistry & Molecular Biology

HMDB 4.0: the human metabolome database for 2018

David S. Wishart et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Multidisciplinary Sciences

Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population

Noha A. Yousri et al.

NATURE COMMUNICATIONS (2018)

Article Cardiac & Cardiovascular Systems

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease

Pim van der Harst et al.

CIRCULATION RESEARCH (2018)

Review Immunology

HLA variation and disease

Calliope A. Dendrou et al.

NATURE REVIEWS IMMUNOLOGY (2018)

Article Public, Environmental & Occupational Health

Interpreting findings from Mendelian randomization using the MR-Egger method

Stephen Burgess et al.

EUROPEAN JOURNAL OF EPIDEMIOLOGY (2017)

Editorial Material Medicine, General & Internal

Mendelian Randomization

Connor A. Emdin et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2017)

Article Biochemistry & Molecular Biology

Reanalysis of mGWAS results and in vitro validation show that lactate dehydrogenase interacts with branched-chain amino acid metabolism

Mattijs M. Heemskerk et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Multidisciplinary Sciences

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson et al.

NATURE (2016)

Review Biotechnology & Applied Microbiology

Emerging applications of metabolomics in drug discovery and precision medicine

David S. Wishart

NATURE REVIEWS DRUG DISCOVERY (2016)

Article Multidisciplinary Sciences

Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA

Johannes Kettunen et al.

NATURE COMMUNICATIONS (2016)

Article Multidisciplinary Sciences

Loss-of-function variants influence the human serum metabolome

Bing Yu et al.

SCIENCE ADVANCES (2016)

Review Biochemistry & Molecular Biology

Genetics of human metabolism: an update

Gabi Kastenmueller et al.

HUMAN MOLECULAR GENETICS (2015)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Review Biochemistry & Molecular Biology

Gut microbiota-generated metabolites in animal health and disease

Won-Jae Lee et al.

NATURE CHEMICAL BIOLOGY (2014)

Article Genetics & Heredity

An atlas of genetic influences on human blood metabolites

So-Youn Shin et al.

NATURE GENETICS (2014)

Article Endocrinology & Metabolism

Human metabolic correlates of body mass index

Steven C. Moore et al.

METABOLOMICS (2014)

Article Genetics & Heredity

GCTA: A Tool for Genome-wide Complex Trait Analysis

Jian Yang et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Multidisciplinary Sciences

Human metabolic individuality in biomedical and pharmaceutical research

Karsten Suhre et al.

NATURE (2011)

Article Genetics & Heredity

Genome partitioning of genetic variation for complex traits using common SNPs

Jian Yang et al.

NATURE GENETICS (2011)

Article Biochemical Research Methods

Robust relationship inference in genome-wide association studies

Ani Manichaikul et al.

BIOINFORMATICS (2010)

Article Biochemical Research Methods

BEDTools: a flexible suite of utilities for comparing genomic features

Aaron R. Quinlan et al.

BIOINFORMATICS (2010)

Article Genetics & Heredity

A genome-wide perspective of genetic variation in human metabolism

Thomas Illig et al.

NATURE GENETICS (2010)

Article Biochemistry & Molecular Biology

KEGG: Kyoto Encyclopedia of Genes and Genomes

M Kanehisa et al.

NUCLEIC ACIDS RESEARCH (2000)