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 …

Insights from multi-omics integration in complex disease primary tissues

P Kreitmaier, G Katsoula, E Zeggini - Trends in Genetics, 2023 - cell.com
Genome-wide association studies (GWAS) have provided insights into the genetic basis of
complex diseases. In the next step, integrative multi-omics approaches can characterize …

[HTML][HTML] Genetics of osteoarthritis

G Aubourg, SJ Rice, P Bruce-Wootton… - Osteoarthritis and …, 2022 - Elsevier
Osteoarthritis genetics has been transformed in the past decade through the application of
large-scale genome-wide association scans. So far, over 100 polymorphic DNA variants …

Interplay between genetics and epigenetics in osteoarthritis

SJ Rice, F Beier, DA Young, J Loughlin - Nature Reviews …, 2020 - nature.com
Research into the molecular genetics of osteoarthritis (OA) has been substantially bolstered
in the past few years by the implementation of powerful genome-wide scans that have …

[HTML][HTML] Osteoarthritis year in review 2019: genetics, genomics and epigenetics

LN Reynard, MJ Barter - Osteoarthritis and cartilage, 2020 - Elsevier
Although osteoarthritis (OA) aetiology is complex, genetic, genomic and epigenetic studies
published within the last decade have advanced our understanding of the molecular …

[HTML][HTML] Osteoarthritis year in review: genetics, genomics, epigenetics

A Ratneswaran, M Kapoor - Osteoarthritis and cartilage, 2021 - Elsevier
Objective In this review, we have highlighted advances in genetics, genomics and
epigenetics in the field of osteoarthritis (OA) over the past year. Methods A literature search …

Genetic and Epigenetic Fine‐Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint

SJ Rice, JB Roberts, M Tselepi… - Arthritis & …, 2021 - Wiley Online Library
Objective Osteoarthritis (OA) is an age‐related disease characterized by articular cartilage
degeneration. It is largely heritable, and genetic screening has identified single‐nucleotide …

Plectin-mediated intermediate filament functions: Why isoforms matter

G Wiche - Cells, 2021 - mdpi.com
This essay focuses on the role of plectin and its various isoforms in mediating intermediate
filament (IF) network functions. It is based on previous studies that provided comprehensive …

Genetic risk of osteoarthritis operates during human skeletogenesis

SJ Rice, A Brumwell, J Falk… - Human Molecular …, 2023 - academic.oup.com
Osteoarthritis (OA) is a polygenic disease of older people resulting in the breakdown of
cartilage within articular joints. Although it is a leading cause of disability, there are no …

[HTML][HTML] Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signals

SJ Rice, K Cheung, LN Reynard, J Loughlin - Osteoarthritis and Cartilage, 2019 - Elsevier
Objective Osteoarthritis (OA) is polygenic with over 90 independent genome-wide
association loci so far reported. A key next step is the identification of target genes and the …