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胶原蛋白基因多态性与颅内动脉瘤的关联:一项荟萃分析。

The association between collagen gene polymorphisms and intracranial aneurysms: a meta-analysis.

作者信息

Meng Qingling, Hao Qiang, Zhao Chuanjie

机构信息

Department of Neurology, The Second People's Hospital of Liaocheng, Liaocheng, 252600, China.

Department of Hepatobiliary Surgery, The Second People's Hospital of Liaocheng, Liaocheng, 252600, China.

出版信息

Neurosurg Rev. 2019 Jun;42(2):243-253. doi: 10.1007/s10143-017-0925-x. Epub 2017 Oct 31.

DOI:10.1007/s10143-017-0925-x
PMID:29086084
Abstract

The association between single nucleotide polymorphisms (SNPs) of the collagen gene and intracranial aneurysm (IA) pathogenesis remains controversial. Thus, in this study, a meta-analysis was performed to evaluate the association between collagen gene SNPs and the incidence of IA. A systematic search of major online databases up to March 2017 was performed. Five genetic models (allelic, dominant, recessive, heterozygous, and homozygous models) were used to analyze the associations. A total of 14 trials with 13,709 patients were included. Four collagen genes, COL1A2 (21 SNPs), COL3A1 (7 SNPs), COL4A1 (6 SNPs), and COL4A2 (1 SNP), were analyzed. We observed that rs42524 in the COL1A2 gene was associated with a significant increase in the risk of IA in Japanese patients (allelic model: OR, 1.94; 95% CI, 1.03-3.64; p = 0.04); the rs1800255 polymorphism in the COL3A1 gene was significantly correlated with Chinese IA patients (allelic model: OR, 1.50; 95% CI, 1.30-1.73; p < 0.001); and rs2621215 was significantly correlated with IA for the heterozygous model (OR, 1.58; 95% CI, 1.15-2.17; p = 0.005) and the dominant model (OR, 1.49; 95% CI, 1.09-2.02; p = 0.012). Furthermore, in the COL4A1 gene, there was a significant relationship between the rs3783107 polymorphism and a Dutch IA population (allelic model: OR, 1.23; 95% CI, 1.06-1.42; p = 0.006), and the prevalence ratio of mutation carriers in the Dutch population was significantly higher than that in the Japanese population (ROR, 1.31; 95% CI, 1.07-1.63; p = 0.008). The rs1800255 polymorphism in COL3A1 is robustly correlated with IA in the Chinese population. Three COL1A2 SNPs-rs42524, rs1800238, and rs2621215-should be studied further.

摘要

胶原蛋白基因单核苷酸多态性(SNP)与颅内动脉瘤(IA)发病机制之间的关联仍存在争议。因此,在本研究中,我们进行了一项荟萃分析,以评估胶原蛋白基因SNP与IA发病率之间的关联。我们对截至2017年3月的主要在线数据库进行了系统检索。使用了五种遗传模型(等位基因、显性、隐性、杂合子和纯合子模型)来分析这些关联。总共纳入了14项试验,涉及13709名患者。对四个胶原蛋白基因,即COL1A2(21个SNP)、COL3A1(7个SNP)、COL4A1(6个SNP)和COL4A2(1个SNP)进行了分析。我们观察到,COL1A2基因中的rs42524与日本患者IA风险的显著增加相关(等位基因模型:OR,1.94;95%CI,1.03 - 3.64;p = 0.04);COL3A1基因中的rs1800255多态性与中国IA患者显著相关(等位基因模型:OR,1.50;95%CI,1.30 - 1.73;p < 0.001);rs2621215在杂合子模型(OR,1.58;95%CI,1.15 - 2.17;p = 0.005)和显性模型(OR,1.49;95%CI,1.09 - 2.02;p = 0.012)中与IA显著相关。此外,在COL4A1基因中,rs3783107多态性与荷兰IA人群之间存在显著关系(等位基因模型:OR,1.23;95%CI,1.06 - 1.42;p = 0.006),荷兰人群中突变携带者的患病率显著高于日本人群(ROR,1.31;95%CI,1.07 - 1.63;p = 0.008)。COL3A1基因中的rs1800255多态性与中国人群的IA密切相关。COL1A2基因的三个SNP——rs42524、rs1800238和rs2621215——应进一步研究。

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