A Replication Study for the Association of rs11190870 With Curve Severity in Adolescent Idiopathic Scoliosis in Japanese-猫眼课题宝

DOI：

10.1097/brs.0000000000002413

发表时间：

2017-09

期刊：

SPINE

影响因子：

通讯作者：

中科院分区：

医学2区

文献类型：

作者：

Yohei Takahashi;I. Kou;Y. Ogura;Atsushi Miyake;Kazuki Takeda;M. Nakajima;S. Minami;N. Kawakami;K. Uno;Manabu Ito;I. Yonezawa;T. Kaito;H. Yanagida;Kei Watanabe;H. Taneichi;K. Harimaya;Y. Taniguchi;T. Kotani;T. Tsuji;Teppei Suzuki;H. Sudo;Nobuyuki Fujita;M. Yagi;K. Chiba;K. Kono;Tsuyoshi Sakuma;Tsutomu Akazawa;K. Nishida;Kenichiro Kakutani;H. Shigematsu;T. Iida;S. Demura;N. Hosogane;Eijiro Okada;M. Nakamura;M. Matsumoto;Kota Watanabe;S. Ikegawa

研究设计.仅病例研究。Objective.本研究的目的是证实rs11190870与日本青少年特发性脊柱侧凸（AIS）患者中AIS严重程度的相关性。背景数据总结。尽管rs11190870与AIS易感性的相关性在多个种族中重复，但rs11190870与弯曲严重程度的相关性存在争议。由于之前的研究规模较小，我们进行了一项重复研究，使用的患者数量远大于之前的研究。方法.本研究共纳入了1860例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AIS进展之间的相关性，然后根据重度弯曲（Cobb角≥40°）或轻度弯曲（Cobb角<30°）对患者进行分组。由于支具可能会影响本研究的结果，因此根据是否佩戴支具将轻度弯曲组的患者进行分组。然后，我们评估了这些组中rs11190870基因型和弯曲严重程度之间的关联。结果重度弯曲组平均Cobb角为54.8° ± 12.1°，轻度弯曲组平均Cobb角为24.4° ± 4.0°。评估重度和轻度弯曲组之间rs11190870风险等位基因频率的差异。未观察到显著差异。然后，我们使用3种模型的2检验检查了轻度和重度曲线组患者之间rs11190870风险等位基因频率的相关性，发现rs11190870与显性模型中曲线严重程度之间存在边缘相关性（P = 0.035，比值比= 1.51）。结论我们发现rs11190870和弯曲严重程度之间没有关联使用以前的研究标准。然而，我们发现rs11190870和弯曲严重程度之间存在边缘相关性。考虑骨骼成熟度和支具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。证据等级：4级

Study Design. Case-only study. Objective. The aim of this study was to confirm the association of rs11190870 with adolescent idiopathic scoliosis (AIS) severity in Japanese patients with AIS. Summary of Background Data. 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. Methods. 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. Results. 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 2 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). Conclusion. 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. Level of Evidence: 4

A Replication Study for the Association of rs11190870 With Curve Severity in Adolescent Idiopathic Scoliosis in Japanese

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