Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.
Spine (Phila Pa 1976). 2017 Oct 1;42(19):E1098-E1103. doi: 10.1097/BRS.0000000000002123.
A genetic association study of GPR126 gene with adolescent idiopathic scoliosis (AIS) in the Chinese population.
To investigate whether rs9403380, rs6570507, and rs7774095 of GPR126 gene are susceptible locus of AIS and to further determine the functional variants regulating gene expression in tissues of AIS.
Previous studies have identified several new susceptibility locus for AIS in GPR126 gene. No studies have, however, investigated GPR126 expression in tissues of AIS, and the regulatory role of susceptible variants in the gene expression remains obscure.
Rs9403380, rs6570507, and rs7774095 were genotyped in 1956 patients with AIS and 2094 controls. The differences of genotype and allele distributions between patients and controls were calculated using chi-square test. Paravertebral muscles were collected from 67 patients with AIS, 20 patients with congenital scoliosis, and 20 patients with lumbar disc herniation. Vertebral bones were obtained in eight patients with AIS and five patients with lumbar disc herniation. Patients with AIS were classified into three groups according to the genotypes of each single-nucleotide polymorphism, and one-way analysis of variance test was used to compare GPR126 expression among different groups and genotypes.
All the three single-nucleotide polymorphisms were found significantly associated with AIS. Allele C of rs9403380, allele G of rs6570507, and allele A of rs7774095 can significantly add to the risk of AIS with an odds ratio of 1.17, 1.16, and 1.15, respectively. Patients with AIS were found to have significantly higher GPR126 expression than controls. Moreover, there was significant difference between the expression of the GPR126 in the concave side and convex side of the patients with AIS. Patients with rs9403380 genotype CC have a significantly increased expression of GPR126 than those with TT.
Rs9403380 could be a functional variant regulating the expression of GPR126 in the paraspinal muscles of AIS, which may serve as a potential biomarker for the early diagnosis of AIS.
N/A.
GPR126 基因与中国青少年特发性脊柱侧凸（AIS）的遗传关联研究。
探讨 GPR126 基因的 rs9403380、rs6570507 和 rs7774095 是否为 AIS 的易感基因，并进一步确定调节 AIS 组织中基因表达的功能变异。
先前的研究已经在 GPR126 基因中发现了几个新的 AIS 易感基因座。然而，尚无研究调查 GPR126 在 AIS 组织中的表达情况，易感变异在基因表达中的调节作用仍不清楚。
对 1956 例 AIS 患者和 2094 例对照进行 rs9403380、rs6570507 和 rs7774095 的基因分型。采用卡方检验计算患者与对照组基因型和等位基因分布的差异。从 67 例 AIS 患者、20 例先天性脊柱侧凸患者和 20 例腰椎间盘突出症患者中采集椎旁肌。从 8 例 AIS 患者和 5 例腰椎间盘突出症患者中获取椎骨。根据每个单核苷酸多态性的基因型将 AIS 患者分为三组，采用单因素方差分析比较不同组和基因型之间 GPR126 的表达。
所有三个单核苷酸多态性均与 AIS 显著相关。rs9403380 的等位基因 C、rs6570507 的等位基因 G 和 rs7774095 的等位基因 A 可使 AIS 的风险分别增加 1.17、1.16 和 1.15。AIS 患者的 GPR126 表达明显高于对照组。此外，AIS 患者的 GPR126 在凹侧和凸侧之间的表达存在显著差异。rs9403380 基因型 CC 的患者 GPR126 表达明显高于 TT 基因型。
rs9403380 可能是调节 AIS 椎旁肌 GPR126 表达的功能变异，可作为 AIS 早期诊断的潜在生物标志物。
N/A。
