Zhu Yufang, Li Weiju, Ge Mingxu, Xu Shangchen, Zhao Guangyu, Wang Hanbin, Qian Haiyan, Zhu Ningxi, Pang Qi
Department of Neurosurgery, Shandong Provincial Hospital of Shandong University, Jinan, China.
J Neurosurg. 2008 Dec;109(6):1060-4. doi: 10.3171/JNS.2008.109.12.1060.
The COL1A2 gene at 7q22.1 has been shown to be associated with familial intracranial aneurysms (IAs) in the Japanese population. In the present study, the authors investigated the correlation between the presence of the rs42524 polymorphism in COL1A2 and the occurrence of sporadic IAs in Chinese patients.
The polymorphism rs42524 of the COL1A2 gene was identified by polymerase chain reaction-based restriction analysis in genomic DNA from 226 patients with sporadic IAs (mean age 51.49 +/- 11.47 years) and 326 control participants (mean age 52.33 +/- 10.50 years). Neurological assessments were performed using the Hunt and Hess grading system, and differences in allelic and genotypic frequencies between the patient and control groups were evaluated with the chi-square test.
There was a significant difference in either the genotype distribution (chi(2) = 11.99, p = 0.002) or allelic frequencies (chi(2) = 11.96, p = 0.001, odds ratio 2.579, 95% confidence interval 1.486-4.476) between patients with IAs and patients in the control group.
The rs42524 polymorphism of COL1A2 could be a genetic risk factor for sporadic IAs among individuals of Chinese Han ethnicity. This study is the first to confirm the association between COL1A2 and IAs.
位于7q22.1的COL1A2基因已被证明与日本人群中的家族性颅内动脉瘤（IA）相关。在本研究中，作者调查了COL1A2基因中rs42524多态性的存在与中国患者散发性IA发生之间的相关性。
通过基于聚合酶链反应的限制性分析，对226例散发性IA患者（平均年龄51.49±11.47岁）和326例对照参与者（平均年龄52.33±10.50岁）的基因组DNA中COL1A2基因的rs42524多态性进行鉴定。使用Hunt和Hess分级系统进行神经学评估，并通过卡方检验评估患者组和对照组之间等位基因和基因型频率的差异。
IA患者与对照组患者在基因型分布（χ² = 11.99，p = 0.002）或等位基因频率（χ² = 11.96，p = 0.001，优势比2.579，95%置信区间1.486 - 4.476）方面存在显著差异。
COL1A2基因的rs42524多态性可能是中国汉族个体散发性IA的遗传危险因素。本研究首次证实了COL1A2与IA之间的关联。
