Abstract
BackgroundThe CHD7 (chromosome domain helicase DNA binding protein 7) gene has been associated with familial idiopathic scoliosis (IS) in families of European descent. The CHD7 single-nucleotide polymorphisms have never been studied in Polish Caucasian IS patients.MethodsThe aim of this study was to investigate the relationship of CHD7 gene polymorphisms with susceptibility to or progression of IS in Polish Caucasian females. The study group comprised 211 females who underwent clinical, radiological and genetic examination. The study group was analyzed in three subgroups according to: (1) Cobb angle (Cobb angle ≤30° vs. Cobb angle ≥35°), (2) age of diagnosis (adolescent IS vs. early-onset IS) and (3) rate of progression (non-progressive vs. slowly progressive vs. rapidly progressive IS). The control group comprised 83 females with no scoliosis and with a negative family history who underwent clinical and genetic examination. In total six CHD7 gene polymorphisms were examined. Three polymorphisms (rs1017861, rs13248429, and rs4738813) were examined by RFLP (restriction fragment length polymorphism) analysis, and three were quantified by Sanger sequencing (rs78874766, rs4738824, and rs74797613).ResultsIn rs13248429, rs78874766, and rs74797613 polymorphisms only the wild allele was present. The rs1017861 polymorphism demonstrated an association with IS susceptibility (p < 0.01). Two polymorphisms, rs1017861 and rs4738813, were associated with curve severity and progression rate (p < 0.05). None of the evaluated polymorphisms in CHD7 gene showed any association with the age of IS onset.ConclusionsThe polymorphism rs1017861 in CHD7 gene showed an association with IS susceptibility. Two polymorphisms (rs1017861 and rs4738813) were associated with curve severity and progression rate. None of the evaluated polymorphisms in CHD7 gene showed any association with the age of IS onset. Further evaluation of CHD7 gene should be considered as IS modifying factor.
Highlights
The chromodomain helicase DNA binding protein 7 (CHD7) gene has been associated with familial idiopathic scoliosis (IS) in families of European descent
Taking into consideration insufficient data concerning the association of IS and CHD7, this study aimed to evaluate CHD7 polymorphisms in Caucasian females with IS in term of IS susceptibility, age of IS onset, curve severity and progression rate
For the case-to-case study, among the subgroups divided by the Cobb’s angle curvature, progression rate and age of scoliosis appearance, there was no deviation from the Hardy-Weinberg equilibrium in genotypes frequencies
Summary
The CHD7 (chromosome domain helicase DNA binding protein 7) gene has been associated with familial idiopathic scoliosis (IS) in families of European descent. The CHD7 single-nucleotide polymorphisms have never been studied in Polish Caucasian IS patients. The prevalence of IS is estimated from 1 to 3% in the adolescent population [1]. The etiology of IS remains unknown and is described as a multifactorial disease with strong genetic influence [2]. It is indicated that the incidence of scoliosis in first-degree relatives is significantly higher than in the general population. SI concordance (meaning that both twins have this pathology) in monozygotic twins is higher in comparison to dizygotic twins [3], which further indicates the influence of genetic factors [3,4,5,6]. It justifies studies undertaken to estimate the relationship of genetic factors with scoliosis susceptibility.
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