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钙调蛋白 1 基因多态性与青少年特发性脊柱侧凸易感性的关联。

Association of calmodulin1 gene polymorphisms with susceptibility to adolescent idiopathic scoliosis.

机构信息

Department of Orthopaegdic Surgery, Peking Union Medical College Hospital, Beijing, China.

出版信息

Orthop Surg. 2009 Feb;1(1):58-65. doi: 10.1111/j.1757-7861.2008.00011.x.

DOI:10.1111/j.1757-7861.2008.00011.x
PMID:22009783
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6734643/
Abstract

OBJECTIVE

To investigate whether: (i) rs12885713 (-16C > T) and rs5871 polymorphisms in the Calmodulin1 (CALM1) gene are predisposing factors for adolescent idiopathic scoliosis (AIS); and (ii) different single nucleotide polymorphisms (SNP) correlate with different subtypes of AIS.

METHODS

A total of 100 AIS patients with Cobb angle above 30° were recruited for this study together with 100 healthy controls. Curve pattern, Cobb angle, and Risser sign were recorded. Two polymorphic loci, rs12885713 (-16C > T) and rs5871 loci, of the CALM1 gene were analyzed. All patients were grouped according to the Peking Union Medical College (PUMC) classification, the apical location of the major curve, and the Cobb angle.

RESULTS

There was a statistically significant difference in the distribution of rs12885713 site polymorphism (P = 0.034) between PUMC type II (double curve) patients and controls, in the distribution of rs12885713 site polymorphism (P = 0.009) between lumbar curve cases and controls and in the distribution of rs5871 site polymorphism (P = 0.035) between thoracic curve patients and controls.

CONCLUSION

Different subtypes of AIS might be related to different SNP. The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be related to CALM1 rs12885713 site polymorphism, while rs5871 site polymorphism might be a risk indicator for thoracic curve cases.

摘要

目的

探讨 CALM1 基因中的 rs12885713(-16C>T)和 rs5871 多态性是否:(i) 是青少年特发性脊柱侧凸(AIS)的易感因素;以及 (ii) 不同的单核苷酸多态性(SNP)与 AIS 的不同亚型相关。

方法

共招募了 100 例 Cobb 角大于 30°的 AIS 患者和 100 例健康对照者进行本研究。记录了曲线形态、Cobb 角和 Risser 征。分析了 CALM1 基因的两个多态性位点 rs12885713(-16C>T)和 rs5871 位点。所有患者均根据北京协和医学院(PUMC)分类、主曲线的顶点位置和 Cobb 角进行分组。

结果

PUMC 型 II(双曲线)患者与对照组 rs12885713 位点多态性分布存在统计学差异(P=0.034),腰椎曲线患者与对照组 rs12885713 位点多态性分布存在统计学差异(P=0.009),胸椎曲线患者与对照组 rs5871 位点多态性分布存在统计学差异(P=0.035)。

结论

不同亚型的 AIS 可能与不同的 SNP 有关。PUMC 型 II(双曲线)AIS 和腰椎曲线的易感性可能与 CALM1 rs12885713 位点多态性有关,而 rs5871 位点多态性可能是胸椎曲线的危险因素。

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