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COL4A1基因的遗传变异与脑出血结局:一项中国汉族人群队列研究

Genetic Variations of COL4A1 Gene and Intracerebral Hemorrhage Outcome: A Cohort Study in a Chinese Han Population.

作者信息

Xia Chao, Lin Sen, Yang Jie, He Sha, Li Hao, Liu Ming, You Chao

机构信息

Center of Cerebrovascular Diseases, Sichuan University, Chengdu, Sichuan, China; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

Center of Cerebrovascular Diseases, Sichuan University, Chengdu, Sichuan, China; Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China; Stroke Clinical Research Unit, Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

出版信息

World Neurosurg. 2018 May;113:e521-e528. doi: 10.1016/j.wneu.2018.02.074. Epub 2018 Feb 21.

Abstract

OBJECTIVE

To investigate the relationship between single nucleotide polymorphisms or haplotypes of COL4A1 gene and the outcome of intracerebral hemorrhage (ICH).

METHODS

In our study, 181 patients with hypertensive ICH were enrolled and followed up at 3 and 6 months. Outcome data included any cause of death and disability. Genomic DNA was extracted by DNA extraction kit, and the 6 single nucleotide polymorphism genotyping of the COL4A1 gene was detected through MassARRAY Analyzer. Unphased 3.1.4 and SPSS 19.0 were used to analyze the association between alleles, genotypes, and haplotypes of the COL4A1 gene and the outcomes of ICH.

RESULTS

Of the 181 patients with hypertensive ICH, 12 were lost in follow-up, which accounted for 6.6%. Our association analysis showed that the rs532625 AA genotype of the COL4A1 gene may increase risk of disability at 3 months; the rs532625 A allele and AA genotype were association factors of the risk of disability at 6 months; the rs532625 AA genotype was an association factor of the risk of death/disability at 6 months. After adjusting for gender, age, coma, and severe neurologic deficits, only the rs532625 AA genotype was independently associated with the risk of disability at 3 and 6 months and the risk of death/disability at 6 months.

CONCLUSIONS

Our study found that the rs532625 AA genotype in the COL4A1 gene was independently associated with the risk of disability at 3 and 6 months and death/disability at 6 months in a Chinese Han population. These conclusions need to be verified in future studies with larger samples.

摘要

目的

探讨COL4A1基因单核苷酸多态性或单倍型与脑出血(ICH)预后的关系。

方法

本研究纳入181例高血压性脑出血患者,并在3个月和6个月时进行随访。结局数据包括任何死因和残疾情况。采用DNA提取试剂盒提取基因组DNA,通过MassARRAY分析仪检测COL4A1基因的6个单核苷酸多态性基因分型。使用Unphased 3.1.4和SPSS 19.0分析COL4A1基因的等位基因、基因型和单倍型与ICH结局之间的关联。

结果

181例高血压性脑出血患者中,12例失访,失访率为6.6%。我们的关联分析表明,COL4A1基因的rs532625 AA基因型可能增加3个月时的残疾风险;rs532625 A等位基因和AA基因型是6个月时残疾风险的关联因素;rs532625 AA基因型是6个月时死亡/残疾风险的关联因素。在调整性别、年龄、昏迷和严重神经功能缺损后,只有rs532625 AA基因型与3个月和6个月时的残疾风险以及6个月时的死亡/残疾风险独立相关。

结论

我们的研究发现,COL4A1基因中的rs532625 AA基因型与中国汉族人群3个月和6个月时的残疾风险以及6个月时的死亡/残疾风险独立相关。这些结论需要在未来更大样本的研究中得到验证。

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