2012
DOI: 10.1007/s00586-012-2389-6
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The genetic epidemiology of idiopathic scoliosis

Abstract: PurposeIdiopathic scoliosis is a complex developmental syndrome defined by an abnormal structural curvature of the spine. High treatment costs, chronic pain/discomfort, and the need for monitoring at-risk individuals contribute to the global healthcare burden of this musculoskeletal disease. Although many studies have endeavored to identify underlying genes, little progress has been made in understanding the etiopathogenesis. The objective of this comprehensive review was to summarize genetic associations/link… Show more

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Cited by 101 publications
(79 citation statements)
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“…This spinal deformation occurs mostly among pubescent girls [4]. Many authors emphasize multifactorial pathomechanism of scoliosis [5][6][7][8], and the involvement of genetic and epigenetic predispositions, and the influence of hormonal factors are widely accepted [6,7,[9][10][11][12][13][14][15].…”
Section: Introductionmentioning
confidence: 99%
“…This spinal deformation occurs mostly among pubescent girls [4]. Many authors emphasize multifactorial pathomechanism of scoliosis [5][6][7][8], and the involvement of genetic and epigenetic predispositions, and the influence of hormonal factors are widely accepted [6,7,[9][10][11][12][13][14][15].…”
Section: Introductionmentioning
confidence: 99%
“…The AIS may resolve spontaneously, with growth, or may progress severely and even be associated with risk of mortality (1,15). The progressive deformity may cause several body prominences, asymmetric waistline, uneven shoulders, injured self-image, pain, spinal degenerative changes, limitations in activities of daily living and, in severe cases, disturbed pulmonary function (29)(30)(31)(32).…”
Section: Discussionmentioning
confidence: 99%
“…Idiopathic scoliosis is a complicated three dimensional deformity and the most common spinal deformity (1). Adolescent idiopathic scoliosis (AIS) is the most common form of idiopathic scoliosis (over 80%) with an onset at puberty and female predominance (2)(3)(4)(5).…”
Section: Introductionmentioning
confidence: 99%
“…Se trata de un síndrome complejo del desarrollo (Gorman et al, 2012) que aparece en la infancia y produce una inclinación lateral en el plano frontal junto a una rotación vertebral. A pesar de no tener una causa claramente definida, parece tener una causa multifactorial (Pérez-Caballero Macarrón et al, 2006) donde pueden estar implicados el sexo y la edad, así como factores de tipo genético (Grauers et al, 2012).…”
Section: Introductionunclassified