Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Sciences, Tokyo, Japan.
Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.
Spine (Phila Pa 1976). 2018 May 15;43(10):688-692. doi: 10.1097/BRS.0000000000002413.
Case-only study.
The aim of this study was to confirm the association of rs11190870 with adolescent idiopathic scoliosis (AIS) severity in Japanese patients with AIS.
Although the association of rs11190870 with AIS susceptibility is replicated in multiple ethnics, the association of rs11190870 with curve severity is controversial. Since the previous studies are of small, we performed a replication study using far larger number of patients than previous studies.
A total of 1860 Japanese patients with AIS who had reached skeletal maturity or undergone surgical fusion were included in the study. We evaluated the association between rs11190870 and AIS progression for the entire group, and then for patients grouped according to a severe curve (a Cobb angle of ≥40°) or mild curve (a Cobb angle <30°). Because braces could affect the results of the present study, patients in the mild-curve group were divided according to whether or not they had worn a brace. We then evaluated associations between rs11190870 genotype and curve severity in these groups.
The mean Cobb angles were 54.8° ± 12.1° in the severe-curve group and 24.4° ± 4.0° in the mild-curve group. The difference in rs11190870 risk-allele frequency between the severe- and mild-curve groups was evaluated. No significant differences were observed. We then examined the association of rs11190870 risk-allele frequency between patients in the mild- and severe-curve groups using the χ test for three models, and found a marginal association between rs11190870 and curve severity in the dominant model (P = 0.035, odds ratio = 1.51).
We found no association between rs11190870 and curve severity using the criteria of previous study. However, we found a marginal association between rs11190870 and curve severity. Large-scale replication studies that consider skeletal maturity and brace history, including replication studies in other ethnic groups, would be helpful for clarifying the association.
病例对照研究。
本研究旨在确认 rs11190870 与日本青少年特发性脊柱侧凸（AIS）患者的脊柱侧凸严重程度之间的关联。
尽管 rs11190870 与 AIS 易感性的关联在多个种族中得到了复制，但 rs11190870 与曲线严重程度的关联存在争议。由于之前的研究规模较小，我们进行了一项复制研究，使用比之前研究更大的患者数量。
共纳入 1860 名达到骨骼成熟或接受手术融合的日本 AIS 患者。我们评估了 rs11190870 与整个组、以及根据严重曲线（Cobb 角≥40°）或轻度曲线（Cobb 角<30°）分组的 AIS 进展之间的关联。由于支架可能会影响本研究的结果，因此根据是否佩戴支架将轻度曲线组的患者进行了分组。然后，我们评估了 rs11190870 基因型与这些组中曲线严重程度之间的关联。
严重曲线组的平均 Cobb 角为 54.8°±12.1°，轻度曲线组的平均 Cobb 角为 24.4°±4.0°。评估了严重和轻度曲线组之间 rs11190870 风险等位基因频率的差异。没有观察到显著差异。然后，我们使用 χ2 检验的三种模型检查了 rs11190870 风险等位基因频率在轻度和严重曲线组患者之间的关联，发现显性模型中 rs11190870 与曲线严重程度之间存在边缘关联（P=0.035，优势比=1.51）。
我们使用以前研究的标准没有发现 rs11190870 与曲线严重程度之间的关联。然而，我们发现 rs11190870 与曲线严重程度之间存在边缘关联。考虑骨骼成熟和支架史的大规模复制研究，包括在其他种族群体中的复制研究，将有助于澄清这种关联。
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