The familiarity of idiopathic scoliosis: Statistical analysis and clinical considerations

被引:3
作者
Aulisa A.G. [1 ]
Guzzanti V. [1 ]
Galli M. [2 ]
Bottaro G. [3 ]
Vitelli O. [3 ]
Ferrara P. [4 ]
Logroscino G. [2 ]
机构
[1] Orthopaedics and Traumatology Department, Children's Hospital Bambino Gesù, Institute of Scientific Research, Piazza San Onofrio 4
[2] Department of Orthopaedics, Catholic University of the Sacred Heart, University Hospital Agostino Gemelli, L.go Gemelli, 8
[3] Campus Bio-Medico University, Via Álvaro del Portillo, 21
[4] Department of Pediatric Sciences, A. Gemelli University Hospital, L.go Gemelli, 8
关键词
Genetic; Idiopathic scoliosis; Multifactorial; Risk factors;
D O I
10.1007/s00590-012-1060-6
中图分类号
学科分类号
摘要
Purpose: The etiology of idiopathic scoliosis (IS) has been the subject of extensive research, and the current opinion is in favor of a multifactorial pathogenesis with an important genetic component. The aim of this study is to investigate the pattern of inheritance over generations of IS and its possible risk factors. Methods: A total of 70 patients affected by IS was selected and studied up to the third generation for an overall cohort of 2,055 subjects. The genealogy was investigated and correlated for scoliosis. Results: The outcomes showed that 73 % of the patients had an age between 12 and 15 years. The 60 % of the mothers had an age between 20 and 29 years and 57 % of the patients were "first born". The 5.8 % of the brothers and the 12.7 % of the sisters were affected by scoliosis. From the analysis of the total sample, it is clear that in 53 % of the families, there is at least another scoliotic besides the patient. Conclusion: The statistical analysis revealed three different types of transmission: autosomic dominant, autosomic recessive and multifactorial. When this last mode of inheritance is involved, female sex and firstborn resulted as risk factors of IS. © 2012 Springer-Verlag.
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页码:781 / 784
页数:3
相关论文
共 18 条
[1]
Sales De Gauzy, J., Ballouhey, Q., Arnaud, C., Grandjean, H., Accadbled, F., Concordance for curve type in familial idiopathic scoliosis: A survey of one hundred families (2010) Spine (Phila Pa 1976), 35 (17), pp. 1602-1606. , 10.1097/BRS.0b013e3181c7d28a
[2]
Cheung, K.M., Wang, T., Qiu, G.X., Recent advances in the aetiology of adolescent idiopathic scoliosis (2008) Int Orthop, 32, pp. 729-734. , 17572891 10.1007/s00264-007-0393-y
[3]
Lowe, T.G., Edgar, M., Margulies, J.Y., Etiology of idiopathic scoliosis: Current trends in research (2000) J Bone Joint Surg Am, 82, pp. 1157-1168
[4]
Justice, C.M., Miller, N.H., Marosy, B., Zhang, J., Wilson, A.F., Familial idiopathic scoliosis (2003) Spine, 28, pp. 589-594. , 12642767
[5]
Riseborough, E.J., Wynne-Davies, R., A genetic survey of idiopathic scoliosis in Boston, Massachusetts (1973) J Bone Joint Surg, 55 (5), pp. 974-982. , 4760104 1:STN:280:DyaE2c%2Fkslyluw%3D%3D
[6]
Wajchenberg, M., Lazar, M., Cavaçana, N., Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: A research article (2010) Scoliosis, 5, p. 7. , 20374654 10.1186/1748-7161-5-7
[7]
Takahashi, Y., Kou, I., Takahashi, A., A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis (2011) Nat Genet, 43, pp. 1237-1240. , 22019779 10.1038/ng.974 1:CAS:528:DC%2BC3MXhtlGks7rF
[8]
Yang, T., Jia, Q., Guo, H., Epidemiological survey of idiopathic scoliosis and sequence alignment analysis of multiple candidate genes (2012) Int Orthop, 36, pp. 1307-1314. , 22183150 10.1007/s00264-011-1419-z
[9]
Gorman, K.F., Julien, C., Moreau, A., The genetic epidemiology of idiopathic scoliosis (2012) Eur Spine J, , June 14 [Epub ahead of print]
[10]
Child, A., Aubry, M., Brice, G., Park, E., Putnam, E., Milewicz, D., The role of fibrillin-1 and fibrillin-2 in severe scoliosis (1999) Research into Spinal Deformities 1, pp. 213-215. , I.A.F. Stokes (eds) IOS Press Amsterdam