BACKGROUND 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. METHODS The 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). RESULTS In 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. CONCLUSIONS The 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.

中文翻译：

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女性特发性脊柱侧弯患者的CHD7基因多态性。

背景技术CHD7（染色体域解旋酶DNA结合蛋白7）基因已与欧洲人后裔家族性特发性脊柱侧凸（IS）相关。波兰白种人IS患者从未研究过CHD7单核苷酸多态性。方法本研究的目的是调查波兰白人女性中CHD7基因多态性与IS易感性或发展的关系。该研究组包括211名接受过临床，放射学和基因检查的女性。根据以下三个亚组对研究组进行了分析：（1）Cobb角（Cobb角≤30°与Cobb角≥35°），（2）诊断年龄（青少年IS与早期发作IS）和（3 ）的进展速度（非进行性vs.缓慢进行性vs.快速进行性IS）。对照组包括83例无脊柱侧弯，家族史为阴性的女性，他们接受了临床和基因检查。总共检查了6个CHD7基因多态性。通过RFLP（限制性片段长度多态性）分析检查了三个多态性（rs1017861，rs13248429和rs4738813），并通过Sanger测序（rs78874766，rs4738824和rs74797613）对了三个多态性进行了定量。结果在rs13248429，rs78874766和rs74797613多态性中，仅存在野生等位基因。rs1017861多态性证明与IS易感性相关（p <0.01）。rs1017861和rs4738813这两个多态性与曲线严重程度和进展率相关（p <0.05）。在CHD7基因中评估的多态性均未显示与IS发病年龄有关。结论CHD7基因的rs1017861多态性与IS易感性有关。两种多态性（rs1017861和rs4738813）与曲线严重程度和进展速度相关。在CHD7基因中评估的多态性均未显示与IS发病年龄有关。应将CHD7基因的进一步评估视为IS修饰因子。