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基质金属蛋白酶-1(MATN1)基因rs1149048多态性与青少年特发性脊柱侧凸易感性的关联:一项荟萃分析。

The association of rs1149048 polymorphism in matrilin-1(MATN1) gene with adolescent idiopathic scoliosis susceptibility: a meta-analysis.

作者信息

Zhang Hongqi, Zhao Shushan, Zhao Zijin, Tang Lanhua, Guo Qiang, Liu Shaohua, Chen Lizhang

机构信息

Department of Spine Surgery, Xiangya Hosptial, Central South University, Changsha, Hunan, China,

出版信息

Mol Biol Rep. 2014;41(4):2543-9. doi: 10.1007/s11033-014-3112-y. Epub 2014 Jan 28.

Abstract

Several previous studies have evaluated the association between rs1149048 polymorphism in the matrilin-1 gene (MATN1) and the risk of adolescent idiopathic scoliosis (AIS). However the results of those studies were inconsistent. We conducted this meta-analysis to assess whether rs1149048 polymorphism was involved in the risk of AIS and evaluated the associations in different ethnicities. Electronic databases, such as: PubMed, EMBASE, WANFANG databases in any languages up to Dec 2012 were searched to assess the association between rs1149048 polymorphism and AIS. Meta-analysis was performed by STATA 12.0 software to estimate the pooled odds ratio (OR) and the 95 % confidence interval (CI). Finally four papers including five studies which involved 1436 AIS patients and 1,879 controls were identified for this meta-analysis. The results showed that G allele of the rs1149048 was significantly associated with increased AIS risk [OR = 1.13, 95 % CI (1.02-1.25), P = 0.023]. As for genotype (GG vs. GA + AA), homozygous GG genotype was also found to be a risk factor of developing AIS. The subgroup meta-analysis results showed G allele and GG genotype were significantly associated with AIS in Asian group but not in Caucasian group. Neither Egger's test nor Begg's test found evidence of publication bias in current study (P > 0.05). In summary, this meta-analysis found an overall significant association of rs1149048 polymorphism with risk of AIS, especially in Asian population. The relationship between rs1149048 polymorphism and AIS in other ethnic population is needed to be investigated.

摘要

此前已有多项研究评估了基质金属蛋白酶-1基因(MATN1)中的rs1149048多态性与青少年特发性脊柱侧凸(AIS)风险之间的关联。然而,这些研究的结果并不一致。我们进行了这项荟萃分析,以评估rs1149048多态性是否与AIS风险相关,并评估不同种族中的关联情况。检索了诸如PubMed、EMBASE、万方数据库等电子数据库,检索截至2012年12月的任何语言的文献,以评估rs1149048多态性与AIS之间的关联。使用STATA 12.0软件进行荟萃分析,以估计合并比值比(OR)和95%置信区间(CI)。最终,确定了四篇包含五项研究的论文,这些研究涉及1436例AIS患者和1879例对照,用于本次荟萃分析。结果显示,rs1149048的G等位基因与AIS风险增加显著相关[OR = 1.13,95%CI(1.02 - 1.25),P = 0.023]。至于基因型(GG与GA + AA),纯合GG基因型也被发现是发生AIS的一个危险因素。亚组荟萃分析结果显示,G等位基因和GG基因型在亚洲组中与AIS显著相关,但在白种人组中并非如此。Egger检验和Begg检验均未发现本研究存在发表偏倚的证据(P > 0.05)。总之,这项荟萃分析发现rs1149048多态性与AIS风险总体上存在显著关联,尤其是在亚洲人群中。rs1149048多态性与其他种族人群中AIS的关系仍有待研究。

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