PSMA6基因rs1048990位点多态性与动脉粥样硬化性脑梗死的相关性分析

摘要
图/表
参考文献
相关文章 (0)

全文: PDF (1361 KB) HTML (1 KB)
输出: BibTeX | EndNote (RIS)

摘要目的：研究陕西汉族人群中蛋白酶体α6亚单位（PSMA6）基因rs1048990（-8C/G）位点的多态性与动脉粥样硬化性脑梗死的关系。方法：采用病例对照研究，选择2012年1月至2013年12月在西安医学院第一附属医院神经内科住院的162例动脉粥样硬化性脑梗死患者（病例组）和同期159例健康体检者（对照组）。应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测PSMA6基因rs1048990位点单核苷酸多态性，并分析其基因型及等位基因频率在脑梗死患者及正常人群中的分布特点。结果：与对照组比，病例组GG基因型频率差异无统计学意义（P=0.054），G等位基因频率差异亦无统计学意义（P=0.05）。分别依据有无高血压和糖尿病病史进行分层分析，病例组各基因型及等位基因频率间差异均无统计学意义（均P＞0.05），对照组亦如此。logistics回归分析发现，PSMA6基因rs1048990位点GG基因型在病例组和对照组间差异无统计学意义（P=0.059）。结论：PSMA6基因rs1048990位点可能与动脉粥样硬化性脑梗死发病不相关，但P值接近有统计学意义，值得进一步研究。

	服务
	把本文推荐给朋友
	加入我的书架
	加入引用管理器
	E-mail Alert
	RSS
	作者相关文章
	赵西耀
	何芳梅

关键词 ：蛋白酶体&alpha, 6亚单位；单核苷酸多态性；动脉粥样硬化性脑梗死

Abstract：Objective: To investigate the correlation between rs1048990(-8C/G) polymorphism of proteasome subunit alpha type 6(PSMA6) gene and artery atherosclerosis cerebral infarction in Han population of the Shanxi province in China. Methods: By using a case-control method, 162 patients with artery atherosclerosis cerebral infarction (the case group) and 159 healthy controls over the same period (the control group) were selected in the study. The patients were in hospital of the department of neurology in the Affiliated Hospital of Xi’an Medical College from January 2012 to December 2013. The single nucleotide polymorphism of rs1048990 of PSMA6 gene was identified by the polymerase chain reaction (PCR) and restriction fragment length polymorphism(RFLP), and genotype and allele frequency distributions in cerebral infarction patients and healthy controls were analyzed. Results: Compared with the control group, the difference of the frequency of GG genetype in the the case group wasn’t significant (P=0.054), the difference of the frequency of G allele wasn’t significant, either (P=0.05). After stratified by suffering from high blood pressure and diabetes, respectively, we didn’t find significant differences among all genotypes and alleles in the case group (all P>0.05); the same result had been found in the control group, too. After adjustment for known cerebral vascular risk factors by logistic regression analysis, the GG genotype of rs1048990 revealed no statistical significance between the case group and the control group (P=0.059). Conclusion: The rs1048990 of PSMA6 gene mayn’t be associated with the artery atherosclerosis cerebral infarction. But the P value approximate statistical significance, the single nucleotide polymorphism is worth further researches.

Key words： proteasome subunit alpha type 6 single nucleotide polymorphism artery atherosclerosis cerebral infarction

收稿日期: 2015-06-03

基金资助:陕西省教育厅专项科研计划项目（2010JK803）。

作者简介: 赵西耀（1980-），男，河南开封人，主治医师，硕士。

链接本文:

https://xb.wmu.edu.cn/CN/ 或 https://xb.wmu.edu.cn/CN/Y2016/V46/I2/97

[1] HECKMAN M G, SOTO-ORTOLAZA A I, DIEHL N N, et al. Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischemic Stroke[J]. Eur J Neurol, 2013, 20(2): 300-308.
[2] BENNETT D A, XU P, CLARKE R, et al. The exon 1 -8C/G SNP in the PSMA6 gene contributes only a small amount to the burden of myocardial infarction in 6946 cases and 2720 controls from a United Kingdom population[J]. Eur J Hum Genet, 2008, 16(4): 480-486.
[3] TAKASHIMA N, SHIOJI K, KOKUBO Y, et al. Validation of the association between the gene encoding proteasome subunit alpha type 6 and myocardial infarction in a Japanese population[J]. Circ J, 2007, 71(4): 495-498.
[4] WANG H, JIANG M, ZHU H, et al. Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronary artery disease risk[J]. Mol Biol Rep, 2013, 40(2): 1035-1041.
[5] LIU X, WANG X, SHEN Y, et al. The functional variantrs1048990 in PSMA6 is associated with susceptibility to myocardial infarction in a Chinese population[J]. Atherosclerosis, 2009, 206(1): 199-203.
[6] 贾立昕, 李俊男, 边云飞, 等. 山西汉族高血压人群与蛋白酶体α6亚单位基因多态性的相关性研究[J]. 中国药物与临床, 2010, 10(1): 49-51.
[7] GOMES A V. Genetics of proteasome diseases[J]. Scientifica(Cairo), 2013, 2013(1): 637629.
[8] 中国高血压防治指南修订委员会. 2004年中国高血压防治指南[J]. 中华心血管病杂志, 2004, 32(12): 1060-1064.
[9] DIVALD A, KIVITY S, WANG P, et al. Myocardial ischemic preconditioning preserves postischemic function of the 26S proteasome through diminished oxidative damage to 19S regulatory particle subunits[J]. Circ Res, 2010, 106(12):1829-1838.
[10] FREILINGER T, BEVAN S, RIPKE S, et al. Genetic variation in the lymphotoxin-alpha pathway and the risk of ischemic stroke in European populations[J]. Stroke, 2009, 40(3):970-972.
[11] SAVCHUK O I, MEL’NYK V S, GONCHAROV S V, et al.Frequency of allele polymorphism of immune proteasome catalytic subunits in patients with ischemic stroke[J]. Fiziol Zh, 2014, 60(1): 49-55.
[12] MELNYK V, SAVCHUK O, DOSENKO V, et al. Allelic polymorphism of the LMP2 and PSMA6 gene in acute ischemic stroke patients in Ukrainian population[J]. J Neurol Sci, 2013, 333 (suppl 1): e184.
[13] BANERJEE I, GUPTA V, AHMED T, et al. Inflammatory system gene polymorphism and the risk of stroke: a case-control study in an Indian population[J]. Brain Res Bull, 2008, 75(1): 158-165.
[14] 罗冬. 湖南汉族人群PSMA6-8C/G多态性与脑卒中的相关性研究[J]. 医学信息, 2013, 26(7): 301.