21 research outputs found
Two prophylactic medication approaches in addition to a pain control regimen for early medical abortion < 63 days’ gestation with mifepristone and misoprostol: study protocol for a randomized, controlled trial
Formation of bifunctional coatings with superdispersed structure by the method of electron-beam surfacing in free air
Significant association between body composition phenotypes and the osteocalcin genomic region in normative human population
SMAD3 Is Associated with the Total Burden of Radiographic Osteoarthritis: The Chingford Study
Background: A newly-described syndrome called Aneurysm-Osteoarthritis Syndrome (AOS) was recently reported. AOS
presents with early onset osteoarthritis (OA) in multiple joints, together with aneurysms in major arteries, and is caused by rare mutations in SMAD3. Because of the similarity of AOS to idiopathic generalized OA (GOA), we hypothesized that SMAD3 is also associated with GOA and tested the hypothesis in a population-based cohort.
Methods: Study participants were derived from the Chingford study. Kellgren-Lawrence (KL) grades and the individual
features of osteophytes and joint space narrowing (JSN) were scored from radiographs of hands, knees, hips, and lumbar
spines. The total KL score, osteophyte score, and JSN score were calculated and used as indicators of the total burden of radiographic OA. Forty-one common SNPs within SMAD3 were genotyped using the Illumina HumanHap610Q array. Linear
regression modelling was used to test the association between the total KL score, osteophyte score, and JSN score and each of the 41 SNPs, with adjustment for patient age and BMI. Permutation testing was used to control the false positive rate.
Results: A total of 609 individuals were included in the analysis. All were Caucasian females with a mean age of 60.965.8. We found that rs3825977, with a minor allele (T) frequency of 20%, in the last intron of SMAD3, was significantly associated with total KL score (b = 0.14, Ppermutation = 0.002). This association was stronger for the total JSN score (b = 0.19, Ppermutation = 0.002) than for total osteophyte score (b = 0.11, Ppermutation = 0.02). The T allele is associated with a 1.47-fold increased odds for people with 5 or more joints to be affected by radiographic OA (Ppermutation = 0.046).
Conclusion: We found that SMAD3 is significantly associated with the total burden of radiographic OA. Further studies are required to reveal the mechanism of the association