We transfected these contructs into the COS-1 or MCT cells, and the results revealed that the HOA-related matrilin-3 mutation (T298M) leads to a high expression level of growth arrest DNA damage-inducible gene 153 (GADD153, also known as CHOP; an endoplasmic reticulum stress marker), as shown by western blot analysis and does not significantly affect protein secretion, as shown by immunofluorescence staining; however, osteochondroplasia, i.e., MED-related (R116W) and SEMD-related (C299S) mutations lead to both high levels of GADD153 expression and protein trafficking into the cytoplasm and form multiple vacuoles in cells, which in turn leads to insufficient protein secretion.
Patients carrying the T(303)M mutation in the gene for matrilin-3 express a form of HOA that is radiologically indistinguishable from idiopathic HOA in individual patients but they have more severe thumb-base involvement, particularly in the STT joint.
The T303M polymorphism of the MATN3 gene, which was initially described as associated with hand osteoarthritis, may be more closely linked to trapeziometacarpal osteoarthritis than to digital osteoarthritis.
A total of 259 HOA patients with total hip replacement (THR) and 518 healthy blood donors as controls were genotyped for IL1B gene SNP -511(G>A) and the VNTR in the IL1RN gene associated with HOA.
Phase IIa, placebo-controlled, randomised study of lutikizumab, an anti-interleukin-1α and anti-interleukin-1β dual variable domain immunoglobulin, in patients with erosive hand osteoarthritis.
To explore whether ultrasound-detected grey-scale synovitis and power Doppler activity in the interphalangeal and 1<sup>st</sup> carpometacarpal (CMC-1) joints is associated with pain and physical function in patients with hand osteoarthritis (OA).
Correction to: Intramuscular clodronate in erosive osteoarthritis of the hand is effective on pain and reduces serum COMP: a randomized pilot trial-The ER.O.D.E. study (ERosive Osteoarthritis and Disodium-clodronate Evaluation).
Six thousand three hundred forty three photographs (from 3676 females and 2667 males aged 40-96) were scored for hand osteoarthritis by a 0-3 grade (0 = no evidence of OA, 1 = possible OA, 2 = definite OA and 3 = severe OA) for each of the three main sites, distal interphalangeal joints (DIP), proximal interphalangeal joints (PIP) and thumb base (CMC1).
Intramuscular clodronate in erosive osteoarthritis of the hand is effective on pain and reduces serum COMP: a randomized pilot trial-The ER.O.D.E. study (ERosive Osteoarthritis and Disodium-clodronate Evaluation).
Analysis of the probabilistic index further revealed that CPII can distinguish between Bouchard's OA and premenopausal controls whereas COMP can discriminate between Bouchard's and Heberden's OA.
There was also a suggestive interaction between the HFErs179945 and the ESR1 rs9340799, and the carriage of the minor allele of either of these SNPs was associated with an increased risk of symptomatic DIP OA (2.1, 1.3-2.5).
Allelic variation at the C-reactive protein gene associates to both hand osteoarthritis severity and serum high sensitive C-reactive protein levels in the GARP study.
Nevertheless, association studies of affected sibling pairs and nuclear families, using candidate gene and genome wide screening and transmission disequilibrium testing, suggest no association with candidates such as COL2A1 (responsible for some rare monogenic syndromes of premature generalized OA) but possible associations, currently not isolated, on chromosome 2q.
Secondary outcomes were pain and functioning (Australian/Canadian Hand Osteoarthritis Index; AUSCAN), quality of life (Short Form Health Survey; SF36) and inflammatory outcomes: erythrocyte sedimentation rate and C-reactive protein serum levels, effusion, synovial thickening and power Doppler signal on ultrasound (range 0-3).