Наследственная генетика: текущие исследования

Абстрактный

Genes Associated with Adolescent Idiopathic Scoliosis: A Review

Villa MJCMD

Adolescent idiopathic scoliosis is considered a multifactorial disease. Numerous altering effects such as age, sex and environment may have significant functions in the phenotypic variation among affected individuals although it is believed to be a complex genetic disease. The expressed phenotype may be due to one or more genes. This article aims to offer several studies, which found genes significantly associated with adolescent idiopathic scoliosis, namely, LBX1, GPR126, SOX9 and KCNJ2, melatonin receptor 1B and IL-17RC. Most of the researches were conducted among Asian populations. Though there were many attempts to identify the genetic etiologies of AIS, it has only limited success even there were confirmations obtained for genetic contribution. This calls for a more conclusive study on different ethnic groups. Also to verify these associations, studies that will focus on the underlying mechanisms of the identified genes should be done.