John A. Loughlin

Specific isoforms of the ubiquitin ligase gene WWP2 are targets of osteoarthritis genetic risk via a differentially methylated DNA sequence

Jack B. Roberts, Olivia Lucy Georgina Boldvig, Guillaume Aubourg, Sai Tanishq Kanchenapally et autres

BACKGROUND: Transitioning from a genetic association signal to an effector gene and a targetable molecular mechanism requires the application of functional fine-mapping tools such as reporter assays and genome editing. In this report, we undertook such studies on the osteoarthritis (OA) risk …

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MOLECULAR ANALYSES AND EPIGENETIC EDITING REVEAL SPECIFIC WWP2 ISOFORMS AS EFFECTORS OF OSTEOARTHRITIS GENETIC RISK

Jack B. Roberts, Olivia Lucy Georgina Boldvig, Guillaume Aubourg, Sai Tanishq Kanchenapally et autres

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Specific isoforms of the ubiquitin ligase gene WWP2 are targets of osteoarthritis genetic risk via a differentially methylated DNA sequence

Jack B. Roberts, Olivia Lucy Georgina Boldvig, Guillaume Aubourg, Sai Tanishq Kanchenapally et autres

Abstract Background Transitioning from a genetic association signal to an effector gene and a targetable molecular mechanism requires the application of functional fine-mapping tools such as reporter assays and genome editing. In this report, we undertook such studies on the osteoarthritis (OA) …

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Three decades of osteoarthritis molecular genetics research: From early discussions to impressive breakthroughs

John A. Loughlin

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Development and validation of a machine learning-supported strategy of patient selection for osteoarthritis clinical trials: the IMI-APPROACH study

Paweł Widera, Paco M J Welsing, Samuel Ankomah Danso, Sjaak Peelen et autres

Objectives To efficiently assess the disease-modifying potential of new osteoarthritis treatments, clinical trials need progression-enriched patient populations. To assess whether the application of machine learning results in patient selection enrichment, we developed a machine learning recruitment strategy targeting progressive patients and validated …

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Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues

Yulia S. Kehayova, Jeremy Mark Wilkinson, Sarah J. Rice, John A. Loughlin

BACKGROUND: Investigation of cartilage and chondrocytes has revealed that the osteoarthritis risk marked by the independent DNA variants rs11583641 and rs1046934 mediate their effects by decreasing the methylation status of CpG dinucleotides in enhancers and increasing the expression of shared target gene …

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Additional file 2 of Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues

Yulia S. Kehayova, Jeremy Mark Wilkinson, Sarah J. Rice, John A. Loughlin

Additional file 2. Methylation data (β-values and M-values) used for rs11583641 mQTL analysis. CpG exclusion rate (text in red) is the percent of genotyped samples that failed QC (replicate values differed by >5%).

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Additional file 9 of Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues

Yulia S. Kehayova, Jeremy Mark Wilkinson, Sarah J. Rice, John A. Loughlin

Additional file 9. RT-qPCR data following dCas9 epigenetic modulation.

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Additional file 5 of Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues

Yulia S. Kehayova, Jeremy Mark Wilkinson, Sarah J. Rice, John A. Loughlin

Additional file 5. Age versus DNA methylation at the rs11583641 locus.

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Additional file 6 of Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues

Yulia S. Kehayova, Jeremy Mark Wilkinson, Sarah J. Rice, John A. Loughlin

Additional file 6. Allelic expression imbalance (AEI) data.

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Additional file 1 of Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues

Yulia S. Kehayova, Jeremy Mark Wilkinson, Sarah J. Rice, John A. Loughlin

Additional file 1. Details of the knee OA patients who donated synovium samples for this study, and of the knee OA patients who donated cartilage samples in our previous analysis of the rs11583641 and rs1046934 loci [8, 9].

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Additional file 7 of Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues

Yulia S. Kehayova, Jeremy Mark Wilkinson, Sarah J. Rice, John A. Loughlin

Additional file 7. Lucia reporter gene data.

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