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CDKN2BAS基因多态性与中国人群颅内动脉瘤风险

CDKN2BAS gene polymorphisms and the risk of intracranial aneurysm in the Chinese population.

作者信息

Chen Yunchang, Li Gancheng, Fan Haiyan, Guo Shenquan, Li Ran, Yin Jian, Zhang Xin, Li Xifeng, He Xuying, Duan Chuanzhi

机构信息

Department of Neurosurgery, The National Key Clinic Specialty, The Neurosurgery Institute of Guangdong Province, Guangdong Provincial Key Laboratory on Brain Function Repair and Regeneration, Zhujiang Hospital, Southern Medical University, Guangzhou, 510282, China.

Department of Neurosurgery, Southern Medical University, Zhujiang Hospital, 253# industry road, Guangzhou, Guangdong, 510282, China.

出版信息

BMC Neurol. 2017 Dec 11;17(1):214. doi: 10.1186/s12883-017-0986-z.

Abstract

BACKGROUND

CDKN2BAS gene polymorphisms has been shown to correlation with intracranial aneurysm(IA) in the study of foreign people. The study, the author selected the Chinese people as the research object to explore whether CDKN2BAS gene polymorphisms associated with Chinese patients with IA.

METHODS

We selected 200 patients(52.69 ± 11.50) with sporadic IA as experimental group, 200 participants(49.99 ± 13.00) over the same period to the hospital without cerebrovascular diseases as control group. Extraction of peripheral blood DNA, applying polymerase chain reaction(PCR)-ligase detection reaction (LDR) identified CDKN2BAS Single nucleotide polymorphism(SNP) locus genotype: rs6475606, rs1333040, rs10757272, rs3217992, rs974336, rs3217986, rs1063192. The differences in allelic and genotype frequencies between the patient and control groups were evaluated by the chi-square test or Fisher's exact tests.

RESULTS

The genotype of rs1333040 and rs6475606 shown association with sporadic IA(X = 8.545, P = 0.014; X = 10.961, P = 0.004; respectively);the C allele of rs6475606 showed reduction the occurrence of IA; the rs1333040 and rs6475606 associated with hemorrhage, the C allele of rs1333040 could lower the risk of hemorrhage, and rs6475606 will not, rs1333040 also associated with aneurysm size.

CONCLUSION

Our research shows that variant rs1333040 and rs6475606 of CDKN2BAS related to the Chinese han population of sporadic IAs occurs. This study confirms the association between CDKN2BAS and IAs.

摘要

背景

在对外籍人群的研究中,已表明CDKN2BAS基因多态性与颅内动脉瘤(IA)相关。在本研究中,作者选取中国人群作为研究对象,以探究CDKN2BAS基因多态性是否与中国IA患者相关。

方法

我们选取200例散发性IA患者(年龄52.69±11.50岁)作为实验组,选取同期到医院就诊的200例无脑血管疾病的参与者(年龄49.99±13.00岁)作为对照组。提取外周血DNA,应用聚合酶链反应(PCR)-连接酶检测反应(LDR)鉴定CDKN2BAS单核苷酸多态性(SNP)位点基因型:rs6475606、rs1333040、rs10757272、rs3217992、rs974336、rs3217986、rs1063192。采用卡方检验或Fisher精确检验评估患者组和对照组之间等位基因频率和基因型频率的差异。

结果

rs1333040和rs6475606的基因型与散发性IA相关(X=8.545,P=0.014;X=10.961,P=0.004);rs6475606的C等位基因显示可降低IA的发生;rs1333040和rs6475606与出血相关,rs1333040的C等位基因可降低出血风险,而rs6475606则不然;rs1333040还与动脉瘤大小相关。

结论

我们的研究表明,CDKN2BAS基因的rs1333040和rs6475606变异与中国汉族人群散发性IA的发生有关。本研究证实了CDKN2BAS与IA之间的关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995a/5725912/62136c0ee615/12883_2017_986_Fig1_HTML.jpg

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