Gene–environment interactions and their impact on human health

SJ Virolainen, A VonHandorf, KCMF Viel… - Genes & …, 2023 - nature.com
The molecular processes underlying human health and disease are highly complex. Often,
genetic and environmental factors contribute to a given disease or phenotype in a non …

Where are the disease-associated eQTLs?

BD Umans, A Battle, Y Gilad - Trends in Genetics, 2021 - cell.com
Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

Unique roles of rare variants in the genetics of complex diseases in humans

Y Momozawa, K Mizukami - Journal of human genetics, 2021 - nature.com
Genome-wide association studies have identified> 10,000 genetic variants associated with
various phenotypes and diseases. Although the majority are common variants, rare variants …

Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits

AA Brown, JJ Fernandez-Tajes, M Hong… - Nature …, 2023 - nature.com
We evaluate the shared genetic regulation of mRNA molecules, proteins and metabolites
derived from whole blood from 3029 human donors. We find abundant allelic heterogeneity …

PCA outperforms popular hidden variable inference methods for molecular QTL mapping

HJ Zhou, L Li, Y Li, W Li, JJ Li - Genome biology, 2022 - Springer
Background Estimating and accounting for hidden variables is widely practiced as an
important step in molecular quantitative trait locus (molecular QTL, henceforth “QTL”) …

mGWAS-Explorer 2.0: Causal Analysis and Interpretation of Metabolite–Phenotype Associations

L Chang, G Zhou, J Xia - Metabolites, 2023 - mdpi.com
Metabolomics-based genome-wide association studies (mGWAS) are key to understanding
the genetic regulations of metabolites in complex phenotypes. We previously developed …

QTLbase2: an enhanced catalog of human quantitative trait loci on extensive molecular phenotypes

D Huang, X Feng, H Yang, J Wang… - Nucleic Acids …, 2023 - academic.oup.com
Deciphering the fine-scale molecular mechanisms that shape the genetic effects at disease-
associated loci from genome-wide association studies (GWAS) remains challenging. The …

An autoimmune pleiotropic SNP modulates IRF5 alternative promoter usage through ZBTB3-mediated chromatin looping

Z Wang, Q Liang, X Qian, B Hu, Z Zheng… - Nature …, 2023 - nature.com
Genetic sharing is extensively observed for autoimmune diseases, but the causal variants
and their underlying molecular mechanisms remain largely unknown. Through systematic …

Genetic approaches for increasing fitness in endangered species

TA Kosch, AW Waddle, CA Cooper, KR Zenger… - Trends in Ecology & …, 2022 - cell.com
The global rate of wildlife extinctions is accelerating, and the persistence of many species
requires conservation breeding programs. A central paradigm of these programs is to …

Beyond association: successes and challenges in linking non-coding genetic variation to functional consequences that modulate Alzheimer's disease risk

G Novikova, SJ Andrews, AE Renton… - Molecular …, 2021 - Springer
Alzheimer's disease (AD) is the most common type of dementia, affecting millions of people
worldwide; however, no disease-modifying treatments are currently available. Genome-wide …