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基质金属蛋白酶-1基因（MATN1）多态性与青少年特发性脊柱侧凸易感性的关联

[Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis].

作者信息

Chen Zhi-jun, Qiu Yong, Yu Yang, Wang Bin, Zhu Ze-zhang

机构信息

Department of Spine Surgery, Affiliated Drum Tower Hospital of Medical School, Nanjing University, Nanjing 210008, China.

出版信息

Zhonghua Wai Ke Za Zhi. 2009 Sep 1;47(17):1332-5.

PMID:20092731

Abstract

OBJECTIVE

To investigate the association of matrilin-1 gene polymorphisms with adolescent idiopathic scoliosis (AIS) risk.

METHODS

This study population consisted of 419 patients with AIS and 460 healthy controls. The maximum Cobb angle of AIS patients was recorded. For initial screening, the 7 tagSNPs were genotyped in 197 cases and 172 controls. Next, we validated any significant associations in additional sample of 222 cases and 288 controls. Single-marker and haplotype analysis were employed. Genotyping was performed by PCR-RFLP method.

RESULTS

We found that allele G of rs1149048 was a significant predisposition allele of AIS (P = 0.0027, OR = 1.34 within 95% CI = 1.11 approximately 1.62), and individuals with genotype GG had a higher risk for AIS compared to AA + AG (P = 0.0008, OR = 1.61 within 95% CI = 1.22 approximately 2.12). Polymorphism of rs1149048 was also associated with curve severity in AIS patients. And a significantly higher in maximum Cobb angle was found in patients with GG genotype (P = 0.002).

CONCLUSIONS

It is concluded that the tagSNP rs1149048 polymorphism in the MATN1 promoter region is associated with both susceptibility and disease severity in AIS.

摘要

目的

探讨基质金属蛋白酶-1基因多态性与青少年特发性脊柱侧凸（AIS）风险的相关性。

方法

本研究人群包括419例AIS患者和460例健康对照。记录AIS患者的最大Cobb角。初始筛查时，对197例患者和172例对照进行7个标签单核苷酸多态性（tagSNP）基因分型。接下来，我们在另外222例患者和288例对照样本中验证任何显著相关性。采用单标记和单倍型分析。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法进行基因分型。

结果

我们发现rs1149048的G等位基因是AIS的显著易感等位基因（P = 0.0027，比值比[OR] = 1.34，95%置信区间[CI] = 1.11至1.62），与AA + AG基因型相比，GG基因型个体患AIS的风险更高（P = 0.0008，OR = 1.61，95%CI = 1.22至2.12）。rs1149048的多态性也与AIS患者的曲线严重程度相关。GG基因型患者的最大Cobb角显著更高（P = 0.002）。