Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci
Autor: | Rice, Sarah J., Tselepi, Maria, Sorial, Antony K., Aubourg, Guillaume, Shepherd, Colin, Almarza, David, Skelton, Andrew J., Pangou, Ioanna, Deehan, David, Reynard, Louise N., Loughlin, John |
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Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
Adult
Cartilage Articular Male Genotype Quantitative Trait Loci Membrane Proteins DNA Methylation Middle Aged Polymorphism Single Nucleotide Receptors N-Methyl-D-Aspartate Biomechanical Phenomena Risk Factors Osteoarthritis Humans Plectin Original Article CpG Islands Female Genetic Predisposition to Disease Alleles Aged Genome-Wide Association Study |
Zdroj: | Arthritis & Rheumatology (Hoboken, N.j.) |
ISSN: | 2326-5205 2326-5191 |
Popis: | Objective To identify methylation quantitative trait loci (mQTLs) correlating with osteoarthritis (OA) risk alleles and to undertake mechanistic characterization as a means of target gene prioritization. Methods We used genome‐wide genotyping and cartilage DNA methylation array data in a discovery screen of novel OA risk loci. This was followed by methylation, gene expression analysis, and genotyping studies in additional cartilage samples, accompanied by in silico analyses. Results We identified 4 novel OA mQTLs. The most significant mQTL contained 9 CpG sites where methylation correlated with OA risk genotype, with 5 of the CpG sites having P values |
Databáze: | OpenAIRE |
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