Concordance for curve type in idiopathic scoliosis among family members

Abstract

Objective: To evaluate the concordance for the curve pattern, side and levels of the superior apical vertebrae, apex and inferior apical vertebrae of curves in patients and their relatives with idiopathic scoliosis. Methods: Concordance according to the Lenke classification for curve pattern, side and levels of the superior apical vertebrae, apex and inferior apical vertebrae were evaluated comparative and prospectively in 243 pairs of patients and respective relatives with idiopathic scoliosis. Results: The family concordance for the curve pattern and side was 51.4% (125 pairs). Among these pairs, the concordance of the levels of the vertebrae was 91.2% (114 pairs). The concordance rate for the curve pattern and side between parents/ children was 51.6% and between siblings was 50.0% (p-value= 0.411). The concordance rates of the levels of vertebrae were 86.8% and 95.1%, respectively (p-value = 0.219). Conclusion: Curve shape in idiopathic scoliosis is related to family and degree of kinship, since the data showed a high concordance for the curve pattern, side and levels of the apical vertebrae and apex between patients and relatives with this deformity. The concordance was higher in those with a closer degree of kinship. Level of Evidence II, Lesser Quality Prospective Study.Keywords: Scoliosis. Genetics. Spine. 86,8% e 95,1% (p-valor = 0,219 RESUMO Objetivo: Avaliar a concordância para o padrão de curva, lado e níveis das vértebras apical superior, ápex e apical inferior das curvas de pacientes e respectivos familiares com escoliose idiopática. Métodos: A concordância, pela classificação de Lenke, para o padrão de curva, lado e níveis das vértebras apical superior, ápex e apical inferior foi avaliada em 243 pares de pacientes e respectivos familiares com escoliose idiopática. Resultados: A concordância familiar para o padrão de curva e lado foi de 51,4% (125 pares). Entre esses pares, a concordância dos níveis das vértebras foi de 91,2% (114 pares). A taxa de concordância para o padrão de curva e lado entre pais/filhos foi de 51,6% e entre irmãos foi de 50,0% (p= 0,411). As taxas de concordância dos níveis das vértebras foram respectivamente de

Genetic Aspects of Idiopathic Escoliosis - A Literature Review

“…10,11 Studies about the familial aggregation of IS and concordance in monozygotic twins provided the first evidence of a possible primary genetic cause of the disease. 12,13 Family-based genetic linkage studies have identified multiple loci of susceptibility. 14,15 Loci have been identified that implicate possible biological processes related to the pathogenesis of IS, such as axial modeling, cartilage formation, and growth asymmetries.…”