Abstract Background: Osteoarthritis (OA) is a major musculoskeletal disease with high prevalence in the elderly. The study of genetic polymorphisms of inflammatory mediators involved in OA may contribute to the elucidation of the complex pathophysiology of this disease and identification of susceptibility individuals. Aim: This study aimed to evaluate the association between polymorphism at tumor necrosis factor alpha gene (SNP – 308 G/A TNFA) with presence, severity and functional status of osteoarthritis in elderly. Methods: This study was characterized as case-control and encompassed 257 physically independent elderly (Mean Age: 68.55 ± 5.2; Minimum age: 60 and Maximum age: 82) were recruited. After this selection, the groups were divided in: 92 elderly individuals with osteoarthritis (case group) and 165 without the disease (control group). Methods: The individuals were genotyped by the TaqMan real-time PCR system. The subjects were classified based on the degree of radiological impairment according to the criteria of Kellgren-Laurence and regarding functional impairment using the WOMAC and LEQUESNE questionnaires. Results: TNFA gene polymorphic individuals (subjects harboring allele A) are more affected by OA (χ2 = 8.7, p = 0.003), once they have major radiological lesion both in hip (Fisher-Freeman-Halton Test = 3.9, p = 0.04) and knee (Fisher- Freeman-Halton Test = 4.0, p = 0.04) as well as worse functional status assessed by the Lequesne questionnaire (Mann- Whitney, p = 0.04). At the multivariate analysis, after adjustment for age, gender, body mass index, the presence of rare allele for TNFA (allele A) increases the susceptibility to OA development [OR: 1.87 (95% CI: 1.1 —3.2)]. Conclusion: We conclude that the SNP – 308 G/A of TNFA gene may affect osteoarthritis susceptibility, severity and functional status of individuals with osteoarthritis.

RESUMO Objetivo: Avaliar a funcionalidade de indivíduos idosos e jovens com dor lombar crônica. Método: Foram avaliados 83 indivíduos, sendo 42 idosos (Grupo controle: 22 e Grupo dor lombar: 20) e 41 jovens (Grupo controle: 20 e Grupo dor lombar: 21). Para avaliação da capacidade funcional, foram utilizados os testes Timed Up and Go (TUG), sentar e levantar de uma cadeira 5 vezes (Five Times Sit-to-Stand - FTSTS), o teste da caminhada dos seis minutos (TC6min) e sentar e levantar do solo (TSL). Resultados: Não houve diferença na capacidade funcional dos jovens entre os grupos (p > 0,05). Contudo, quando a análise é ajustada para a covariável “IMC”, o Grupo dor lombar apresentou pior desempenho no teste TSL (p = 0,004). No grupo de idosos, foi observado pior desempenho no Grupo dor lombar no teste TSL (p = 0,001). Após o ajuste pela variável “IMC”, observou-se diferença estatística nas condições do teste TSL, assim como no TC6min (p < 0,05) . Conclusão: Idosos com dor lombar crônica apresentaram pior desempenho funcional e o teste TSL foi o mais discriminativo para avaliação funcional de indivíduos com dor lombar crônica. Nível de Evidência III, Estudo Retrospectivo Comparativo.

ABSTRACT Objective: The objective of this study was to analyze the functional status of adult and older adult individuals with lower back pain . Methods: Eighty-three individuals were recruited, 42 older adults (20 with lower back pain and 22 control group) and 41 younger adults (21 with lower back pain and 20 control group). Functional capacity was assessed using the following tests: Timed Up and Go (TUG), Five Times Sit-to-Stand (FTSTS), six-minute walking test (SMWT), and sitting-rising test (SRT) . Results: In the younger adults, there was no difference in functional capacity between the groups (p>0.05). On the other hand, when statistical analysis was adjusted using body mass index (BMI) as a covariate, the lower back pain group performed more poorly on the SRT (p<0.004). Furthermore, poorer physical capacity was seen in the older adults with back pain via the SRT test (p=0.001), and when the BMI was adjusted, a statistical difference was seen in the SRT as well as the SMWT (p<0.05) . Conclusion: Older individuals with lower back pain have poorer physical performance, and the sitting-rising test is the most discerning for assessment of functional status in individuals with lower back pain. Level of Evidence III, Retrospective Comparative Study.

RESUMO Racional: A neoplasia colorretal representa a quarta malignidade mais comum entre homens e a terceira entre as mulheres. No mundo ocidental estima-se que 5% da população a desenvolverá, tornando-a grave problema de saúde pública. Objetivo: Analisar a prevalência de polimorfismo na região -765G/C do gene COX-2 em pacientes com câncer colorretal em relação a um grupo controle, analisando a possível associação entre este polimorfismo e a suscetibilidade a ele. Método: Foram incluídos neste estudo caso-controle 85 participantes. Selecionou-se 25 com neoplasia colorretal (grupo caso) e 60 pacientes sem neoplasia colorretal (grupo controle). Realizou-se análise genético-molecular para identificação do polimorfismo -765G/C do gene COX2 com técnica padrão da literatura. Além disso, foram levantados dados clínicos e anatomopatológicos dos pacientes. Resultado: Constatou-se discreto aumento de prevalência entre os homens no grupo caso, embora esta diferença não fosse estatisticamente significante. Os resultados revelaram alta prevalência do genótipo GC e CC nos indivíduos com câncer colorretal, demonstrando associação entre a presença do polimorfismo no gene COX2 e a suscetibilidade ao câncer colorretal nesta amostra (p=0,02). Similarmente, também se observou diferença nas frequências alélicas em relação aos grupos. Quando os pacientes com a neoplasia foram separados por localização do tumor, verificou-se maior prevalência do polimorfismo em pacientes de cólon esquerdo (p=0,02). Conclusão: O polimorfismo no gene COX2 está associado com a maior suscetibilidade ao câncer colorretal, especialmente em tumores do retossigmoide.

ABSTRACT Background: The colorectal neoplasm is the fourth most common malignancy among males and the third among females. In the Western world is estimated that 5% of the population will develop it, making this disease a major public health problem. Aim: To analyze the prevalence of the polymorphism -765G / C region of the COX-2 gene in colorectal cancer patients compared to a control group, analyzing the possible association between this polymorphism and susceptibility to colorectal cancer. Method: This is a case-control study with 85 participants. Were selected 25 with colorectal cancer (case group) and 60 participants without colorectal neoplasia (control group). The molecular genetic analysis was perform to identify the polymorphism -765G / C COX2 gene with standard literature technique. In addition, patient’s clinical and pathological data were analyzed. Results: There was a light increase in prevalence between men in the case group, although this difference was not statistically significant. The results showed a high prevalence of GC and CC genotype in individuals with colorectal cancer, demonstrating an association between the presence of the polymorphism in the COX2 gene and susceptibility to colorectal cancer in this pattern (p=0.02). Similarly, there was also difference in allele frequencies in the groups. When patients with cancer were separated by tumor location, there was a higher prevalence of polymorphism in the left colon (p=0.02). Conclusion: The polymorphism in the COX2 gene is associated with increased susceptibility to colorectal cancer, specially rectosigmoid tumors.