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Abstract Background In a recent genome-wide association study, novel genetic variations of WNT9A were reported to be involved in the etiopathogenesis of thumb osteoarthritis (TOA) in Caucasians. Our purposes were to replicate the association of WNT9A with the development of TOA in the Chinese population and to further unveil the functional role of the risk variants. Methods SNP rs11588850 of WNT9A were genotyped in 953 TOA patients and 1124 healthy controls. The differences of genotype and allele distributions between the patients and healthy controls were evaluated using the Chi-square test. Luciferase Reporter Assay was performed to investigate the influence of variant on the gene expression. Results There was significantly lower frequency of genotype AA in TOA patients than in the controls 74.9% vs. 81.9%, p < 0.001). The frequency of allele A was remarkably lower in the patients than in the controls (86.3% vs. 90.5%, p < 0.001), with an odds ratio of 0.66 (95% CI = 0.54-0.80). Luciferase Reporter Assay showed that the construct containing mutant allele G of rs11588850 displayed 29.1% higher enhancer activity than the wild allele A construct (p < 0.05). Conclusions Allele G of rs11588850 was associated with the increased risk of TOA possibly via up-regulation of WNT9A expression. Further functional analysis into the regulatory role of rs11588850 in WNT9A expression can shed new light on the genetic architecture of TOA. Key Points Genetic variants of WNT9A were associated with the incidence and severity of TOA. Allele G of rs11588850 was associated with an increased transcriptional activity of WNT9A promoter. Allele G of rs11588850 may add to the risk of TOA possibly via up-regulation of WNT9A expression. Further functional analysis into the regulatory role of rs11588850 in WNT9A expression can shed new light on the genetic architecture of TOA.
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ABSTRACT Introduction Comparison of different surgical techniques to treat patients with rhizarthrosis or carpometacarpal osteoarthritis of the thumb. Materials and Methods A systematic review was conducted using three electronic databases. Randomized, controlled trials in patients who underwent surgery for the treatment of rhizarthrosis were included. The literature review followed the PRISMA protocol. Results A total of 15 articles involving a total population of 958 patients were selected. Seven different surgical techniques were compared. Conclusions We conclude that no procedure is superior to another in terms of pain, physical function, overall patient assessment, range of motion, or strength. Outcome measurements should be standardized to enable better comparison between surgical techniques. Level of evidence II, Systematic Review.
RESUMO Introdução Comparação de diferentes técnicas cirúrgicas em pacientes com rizartrose ou osteoartrite carpometacárpica do polegar. Materiais e Métodos A revisão sistemática foi conduzida em três bancos de dados eletrônicos. Foram incluídos estudos clínicos randomizados e controlados com pacientes submetidos ao tratamento cirúrgico para tratamento de rizartrose. A revisão da literatura seguiu o protocolo PRISMA. Resultados Foram selecionados 15 artigos, envolvendo uma população total de 958 pacientes. Foram comparadas sete técnicas cirúrgicas distintas. Conclusões Concluímos que nenhum procedimento é superior a outro em termos de dor, função física, avaliação geral do paciente, amplitude de movimento ou força. A mensuração dos desfechos obtidos devem ser padronizadas a fim de possibilitar melhor comparação entre as técnicas cirúrgicas assim como, permitir uma análise estatística fidedigna. Nível de Evidência II; Revisão Sistemática.