Metabolomic epidemiology offers insights into disease aetiology

H Fuller, Y Zhu, J Nicholas, HA Chatelaine… - Nature …, 2023 - nature.com
Metabolomic epidemiology is the high-throughput study of the relationship between
metabolites and health-related traits. This emerging and rapidly growing field has improved …

Atlas of plasma NMR biomarkers for health and disease in 118,461 individuals from the UK Biobank

H Julkunen, A Cichońska, M Tiainen, H Koskela… - Nature …, 2023 - nature.com
Blood lipids and metabolites are markers of current health and future disease risk. Here, we
describe plasma nuclear magnetic resonance (NMR) biomarker data for 118,461 …

Understanding genetic variants in context

N Sinnott-Armstrong, S Fields, F Roth, LM Starita… - eLife, 2024 - elifesciences.org
Over the last three decades, human genetics has gone from dissecting high-penetrance
Mendelian diseases to discovering the vast and complex genetic etiology of common human …

Genome-wide characterization of circulating metabolic biomarkers

MK Karjalainen, S Karthikeyan, C Oliver-Williams… - Nature, 2024 - nature.com
Genome-wide association analyses using high-throughput metabolomics platforms have led
to novel insights into the biology of human metabolism,,,,,–. This detailed knowledge of the …

Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank

A Nag, RS Dhindsa, L Middleton, X Jiang… - The American Journal of …, 2023 - cell.com
Genome-wide association studies (GWASs) have established the contribution of common
and low-frequency variants to metabolic blood measurements in the UK Biobank (UKB). To …

Simple scaling laws control the genetic architectures of human complex traits

YB Simons, H Mostafavi, CJ Smith, JK Pritchard… - bioRxiv, 2022 - biorxiv.org
Genome-wide association studies have revealed that the genetic architectures of complex
traits vary widely, including in terms of the numbers, effect sizes, and allele frequencies of …

Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations

C Auwerx, MC Sadler, T Woh, A Reymond, Z Kutalik… - Elife, 2023 - elifesciences.org
Despite the success of genome-wide association studies (GWASs) in identifying genetic
variants associated with complex traits, understanding the mechanisms behind these …

Adults prenatally exposed to the Dutch Famine exhibit a metabolic signature associated with a broad spectrum of common diseases

MJ Taeubert, TB Kuipers, J Zhou, C Li, S Wang… - BMC medicine, 2024 - Springer
Background Exposure to famine in the prenatal period is associated with an increased risk
of metabolic disease, including obesity and type 2 diabetes. We employed nuclear magnetic …

Interplay between plasma glycine and branched-chain amino acids contributes to the development of hypertension and coronary heart disease

M Dziedzic, E Józefczuk, TJ Guzik, M Siedlinski - Hypertension, 2024 - Am Heart Assoc
BACKGROUND: Higher levels of plasma glycine are linked to a reduced risk, while
increased levels of total branched-chain amino acids (tBCAAs) are associated with a higher …

Metabolomic associations of impaired awareness of hypoglycaemia in type 1 diabetes

RDM Varkevisser, A Cecil, C Prehn, D Mul… - Scientific Reports, 2024 - nature.com
This study investigates impaired awareness of hypoglycaemia (IAH), a complication of
insulin therapy affecting 20–40% of individuals with type 1 diabetes. The exact …