Genetic impacts on DNA methylation: research findings and future perspectives
S Villicaña, JT Bell - Genome biology, 2021 - Springer
Multiple recent studies highlight that genetic variants can have strong impacts on a
significant proportion of the human DNA methylome. Methylation quantitative trait loci, or …
significant proportion of the human DNA methylome. Methylation quantitative trait loci, or …
Where are the disease-associated eQTLs?
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 …
have detectable effects on gene expression. One explanation could be that we have not …
A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …
dysfunction is poorly understood. In the present study, we define the genetic association with …
DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits
M Oliva, K Demanelis, Y Lu, M Chernoff, F Jasmine… - Nature …, 2023 - nature.com
Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-
specific characterization of DNAm is needed to understand its role in gene regulation and its …
specific characterization of DNAm is needed to understand its role in gene regulation and its …
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
MA Nalls, C Blauwendraat, CL Vallerga… - The Lancet …, 2019 - thelancet.com
Background Genome-wide association studies (GWAS) in Parkinson's disease have
increased the scope of biological knowledge about the disease over the past decade. We …
increased the scope of biological knowledge about the disease over the past decade. We …
Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer's disease pathogenesis
Genome-wide association studies (GWAS) have identified many risk loci for Alzheimer's
disease (AD),, but how these loci confer AD risk is unclear. Here, we aimed to identify loci …
disease (AD),, but how these loci confer AD risk is unclear. Here, we aimed to identify loci …
A more accurate method for colocalisation analysis allowing for multiple causal variants
C Wallace - PLoS genetics, 2021 - journals.plos.org
In genome-wide association studies (GWAS) it is now common to search for, and find,
multiple causal variants located in close proximity. It has also become standard to ask …
multiple causal variants located in close proximity. It has also become standard to ask …
Brain proteome-wide association study implicates novel proteins in depression pathogenesis
Depression is a common condition, but current treatments are only effective in a subset of
individuals. To identify new treatment targets, we integrated depression genome-wide …
individuals. To identify new treatment targets, we integrated depression genome-wide …