Aspectos genéticos da escoliose idiopática do adolescente

Abstract

A escoliose idiopática do adolescente é uma doença frequente e sua etiologia permanece obscura. Várias hipóteses foram formuladas, entre elas a possibilidade da transmissão genética. Estudos na literatura procuraram analisar a prevalência da doença em determinadas populações, as possíveis formas de transmissão, a localização dos genes responsáveis e as variações de determinados genes (polimorfismos) que podem influenciar o desenvolvimento da deformidade. O objetivo deste artigo é revisar e atualizar os conceitos sobre a influência genética na etiologia da escoliose idiopática do adolescente.

Association between vitamin d levels and adolescent idiopathic scoliosis

“…Structural alterations of the vertebral and paravertebral tissues, and neuromuscular, proprioceptive, hormonal and biomechanical factors may be involved in the genesis of this disease, and there is also a clear association with age, sex and growth. 1,2 The genetic heritage of scoliosis probably involves multiple genes and genetic polymorphisms. 1 It is known that female patients with idiopathic scoliosis tend to be taller and thinner, and there is evidence of abnormal growth patterns.…”

“…The incidence is higher among first-degree relatives, and the inheritance pattern remains undefined. 2 Skeletal maturity, potential remaining growth and age at menarche are classic risk factors for curve progression. 3 Recent evidence suggests that osteopenia may also be a risk factor for progression.…”

Genetic Aspects of Idiopathic Escoliosis - A Literature Review

“…24 In Brazil, Wajchenberg, analyzed the genealogy of 100 Brazilian families that had at least one member with adolescent IS with a curve greater than or equal to 20° and reported that 33% had some family member with the same disease, 5.21% being first-degree relatives, 4.54% second-degree relatives, and 8.97% third-degree relatives. 25…”

Research Article Lack of differences in the expression of the angiotensin I - converting enzyme gene in the rotator muscles of patients with adolescent idiopathic scoliosis in a cross-sectional study comparing between the concave and convex sides of the scoliosis.

“…AIS more commonly afflicts female Caucasian individuals with a lanky body type. Previous work focused on the physical and radiological features of populations with these characteristics, assessing the behavior of the disease in families (Lonstein, 1994;Wajchenberg et al, 2005;Wajchenberg et al, 2012). Wise et al (2000) made the first attempt to relate AIS to certain chromosomal regions, through genetic linkage studies in these families.…”

“…Single nucleotide polymorphisms (SNPs) usually have no effect on cell function. However, many of them bear a high correlation with disease, drug action in cellular response, and physical performance (Wajchenberg et al, 2012). SNPs may also affect the function of certain tissues.…”