蛋白酶体α6亚单位基因1233A/T位点多态性与脑梗死的关系

doi:10.3969/j.issn.1006-9771.2019.08.014

《中国康复理论与实践》 ›› 2019, Vol. 25 ›› Issue (8): 966-970.doi: 10.3969/j.issn.1006-9771.2019.08.014

蛋白酶体α6亚单位基因1233A/T位点多态性与脑梗死的关系

何芳梅¹, 任春晓¹, 宋春霞², 高惠霞¹, 王晶晶¹

1.陕西能源职业技术学院医学院康复美容教研室，陕西西安市 712000
2.西安医学院第一附属医院神经内科，陕西西安市 710077

收稿日期:2018-10-08 修回日期:2019-01-15 出版日期:2019-08-25 发布日期:2019-08-16
通讯作者: 任春晓，E-mail: rcx198202@163.com
作者简介:何芳梅(1982-)，女，汉族，甘肃天水市人，硕士，讲师，主要研究方向：脑血管病、基因多态性。
基金资助:
陕西省教育厅专项科研计划项目(No. 2010JK803)

Relationship of 1233A/T Polymorphism of Proteasome Subunit α Type 6 Gene with Cerebral Infarction

HE Fang-mei¹, REN Chun-xiao¹, SONG Chun-xia², GAO Hui-xia¹, WANG Jing-jing¹

1.Department of Teaching and Research Section of Rehabilitation and Beauty, Shaanxi Energy Institute, Xi’an, Shaanxi 712000, China
2.The First Affiliated Hospital of Xi’an Medical University, Xi’an, Shaanxi 710077, China

Received:2018-10-08 Revised:2019-01-15 Published:2019-08-25 Online:2019-08-16
Contact: REN Chun-xiao, E-mail: rcx198202@163.com
Supported by:
Supported by Special Scientific Research Project of Shaanxi Education Department (No. 2010JK803)

摘要/Abstract

摘要： 目的探讨中国汉族人群中蛋白酶体α6亚单位(PSMA6)基因1233A/T(-1520C/T)位点的多态性与脑梗死的相关性。方法 2012年1月至2015年4月，选择脑梗死患者211例(病例组)和健康体检者201例(对照组)，应用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)检测PSMA6基因1233A/T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和正常人群中的分布特点。结果两组CC、CT+TT基因型频率及C、T等位基因频率均无显著性差异(χ² < 0.053, P > 0.05)。性别分层后，无论男性、女性，两组CC、CT、TT基因型频率和C等位基因频率均无显著性差异(χ² < 2.735, P > 0.05)。结论 PSMA6基因1233A/T位点可能与脑梗死的发病无关。

关键词: 蛋白酶体α6亚单位基因, 单核苷酸多态性, 脑梗死

Abstract: Objective To evaluate the relationship between 1233A/T polymorphism of proteasome subunit α type 6 (PSMA6) gene and cerebral infarction in Chinese Han population. Methods From January, 2012 to April, 2015, 211 cerebral infarction patients (case group) and 201 healthy controls (control group) were selected in the study. The single nucleotide polymorphism of 1233A/T of PSMA6 gene was identified by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), and genotypes and allele frequency distributions in two groups were analyzed. Results The frequencies of CC, CT+TT genetype and the C allele all revealed no significant difference between two groups (χ² < 0.053, P > 0.05). After stratified by gender, the difference among all genetypes and C allele were still not significant between two groups in either male or female (χ² < 2.735, P > 0.05). Conclusion The 1233A/T of PSMA6 gene might not be associated with cerebral infarction.

Key words: proteasome subunit α type 6, single nucleotide polymorphism, cerebral infarction

中图分类号:

R743.32

何芳梅, 任春晓, 宋春霞, 高惠霞, 王晶晶. 蛋白酶体α6亚单位基因1233A/T位点多态性与脑梗死的关系[J]. 《中国康复理论与实践》, 2019, 25(8): 966-970.

HE Fang-mei, REN Chun-xiao, SONG Chun-xia, GAO Hui-xia, WANG Jing-jing. Relationship of 1233A/T Polymorphism of Proteasome Subunit α Type 6 Gene with Cerebral Infarction[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2019, 25(8): 966-970.

参考文献

1 GomesA V. Genetics of proteasome diseases [J]. Scientifica (Cairo), 2013, 2013: 637629.
2 SamaniN J. Molecular genetics of coronary artery disease: measuring the phenotype [J]. Clin Sci (Lond), 1998, 95(6): 645-646.
3 SjaksteT, ParamonovaN, Rumba-RozenfeldeI, et al. Juvenile idiopathic arthritis subtype- and sex-specific associations with genetic variants in the PSMA6/PSMC6/PSMA3 gene cluster [J]. Pediatr Neonatol, 2014, 55(5): 393-403.
4 WangH, JiangM, ZhuH, 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 DurrantD, LiuJ, YangH S, et al. The bortezomib-induced mitochondrial damage is mediated by accumulation of active protein kinase C-delta [J]. Biochem Biophys Res Commun, 2004, 321(4): 905-908.
6 GurusamyN, GoswamiS, MalikG, et al. Oxidative injury induces selective rather than global inhibition of proteasomal activity [J]. J Mol Cell Cardiol, 2008, 44(2): 419-428.
7 SalcedoA, MayorF Jr, PenelaP. Mdm2 is involved in the ubiquitination and degradation of G-protein-coupled receptor kinase 2 [J]. EMBO J, 2006, 25(20): 4752-4762.
8 DivaldA, KivityS, WangP, 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.
9 TannousP, ZhuH, NemchenkoA, et al. Intracellular protein aggregation is a proximal trigger of cardiomyocyte autophagy [J]. Circulation, 2008, 117(24): 3070-3078.
10 ZhangH P, YuanL B, ZhaoR N, et al. Isoflurane preconditioning induces neuroprotection by attenuating ubiquitin-conjugated protein aggregation in a mouse model of transient global cerebral ischemia [J]. Anesth Analg, 2010, 111(2): 506-514.
11 ChurchillE N, FerreiraJ C, BrumP C, et al. Ischaemic preconditioning improves proteasomal activity and increases the degradation of deltaPKC during reperfusion [J]. Cardiovasc Res, 2010, 85(2): 385-394.
12 CaiZ P, ShenZ, Van KaerL, et al. Ischemic preconditioning-induced cardioprotection is lost in mice with immunoproteasome subunit low molecular mass polypeptide-2 deficiency [J]. FASEB J, 2008, 22(12): 4248-4257.
13 GurusamyN, GoswamiS, MalikG, et al. Oxidative injury induces selective rather than global inhibition of proteasomal activity [J]. J Mol Cell Cardiol, 2008, 44(2): 419-428.
14 FreilingerG, HappakW, BurggasserG, et al. Histochemical mapping and fiber size analysis of mimic muscles [J]. Plast Reconstr Surg, 1990, 86(3): 422-428.
15 SavchukO I, Mel'nykV S, GoncharovS V, et al. [Frequency of allele polymorphism of immune proteasome catalytic subunits in patients with ischemic stroke] [J]. [in Ukrainian]. Fiziol Zh, 2014, 60(1): 49-55.
16 AlsmadiO, MuiyaP, KhalakH, et al. Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease [J]. Ann Hum Genet, 2009, 73(Pt 5): 475-483.
17 赵西耀,何芳梅. PSMA6基因rs17458312位点多态性与脑梗死的相关性研究[J]. 中国康复理论与实践, 2015, 21(9): 1091-1094.
18 赵西耀,何芳梅. 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[J]. 温州医科大学学报, 2016, 46(2): 97-101.
19 ZemeckieneZ, SitkauskieneB, GasiunieneE, et al. Evaluation of proteasomal gene polymorphisms in Lithuanian patients with asthma [J]. J Asthma, 2015, 52(5): 447-452.
20 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(14): 301-301.
21 HeckmanM G, Soto-OrtolazaA I, DiehlN N, et al. Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke [J]. Eur J Neurol, 2013, 20(2): 300-308.
22 KakumuT, SatoM, GotoD, et al. Identification of proteasomal catalytic subunit PSMA6 as a therapeutic target for lung cancer [J]. Cancer Sci, 2017, 108(4): 732-743.
23 BuraczynskaM, StecA, FilipczakA, et al. Association between functional variant of inflammatory system gene (PSMA6) and end-stage kidney disease [J]. Int Urol Nephrol, 2016, 48(12): 2083-2087.
24 TamasauskieneL, ZemeckieneZ, SakalauskasR, et al. Expectancy of asthma phenotype having different polymorphism of PSMA6, PSMC6, PSMA3 proteasomal genes: Lithuanian study [J]. World Allergy Organization Journal, 2015, 8(S1): A154.
25 SjaksteT, TrapinaI, Rumba-RozenfeldeI, et al. Identification of a novel candidate locus for juvenile idiopathic arthritis at 14q13.2 in the Latvian population by association analysis with microsatellite markers [J]. DNA Cell Biol, 2010, 29(9): 543-551.
26 崔少楠,陈欣. 内皮型一氧化氮合酶基因第4内含子基因多态性与冠状动脉扩张症的关系[J]. 中国动脉硬化杂志, 2017, 25(12): 1253-1256.

[1]	罗盛飞,胡志波,王宁华,闵红巍,张德俭,刘克敏. 原发性膝骨关节炎易感基因多态性位点的系统综述[J]. 《中国康复理论与实践》, 2022, 28(7): 803-808.
[2]	韩凯月,刘光亮,苏文龙,唐芷晴,张皓. 智能有氧踏车训练对不同病程脑梗死患者的效果[J]. 《中国康复理论与实践》, 2022, 28(7): 822-827.
[3]	戴燕红, 黄嘉英, 罗海龙, 汪睿清, 黄颖安, 陈卓铭, 王红. 脑皮质梗死慢性期非流利性失语症灰质体积的改变[J]. 《中国康复理论与实践》, 2021, 27(7): 785-790.
[4]	王琼芬,王风波,王科,钟永强,王娇娇. 电针风池对急性脑梗死大鼠脑星形胶质细胞和神经元的保护效果[J]. 《中国康复理论与实践》, 2021, 27(3): 302-309.
[5]	张馨予,杜小正,王金海,何文洁,王娜娜,王若州,井维尧,杨尚伟. Netrin-1对脑梗死损伤的保护和修复作用研究进展[J]. 《中国康复理论与实践》, 2021, 27(3): 316-319.
[6]	杨福霞,侯冬梅,高进云,古媚,赵波沣,曾旭梅,詹敏敏,谢敏娇,谢耀钦. 针灸治疗对脑梗死后运动功能和皮质脊髓束损伤效果的神经影像学观察[J]. 《中国康复理论与实践》, 2021, 27(11): 1312-1317.
[7]	郭琳佳,陈靖,高凤莲,张运,刘文宏. 以急性多发性脑梗死为首发表现的Trousseau综合征临床特征分析[J]. 《中国康复理论与实践》, 2020, 26(6): 730-737.
[8]	杜宇鹏,李晓东,刘文兵,刘雪云. 不同强度的经颅直流电刺激对脑梗死后吞咽障碍患者的疗效比较[J]. 《中国康复理论与实践》, 2020, 26(5): 583-587.
[9]	王雪,张淑燕. 脑梗死患者住院费用结构分析：基于结构变动度和灰色关联法[J]. 《中国康复理论与实践》, 2020, 26(1): 115-119.
[10]	赵江莉, 毛玉瑢, 徐智勤, 陈少贞, 黄东锋. 中文版上肢动作研究量表在早期脑梗死患者中的效度[J]. 《中国康复理论与实践》, 2019, 25(8): 946-955.
[11]	张玉峰, 陈兵, 井峰. 血栓弹力图在脑梗死预后中的价值[J]. 《中国康复理论与实践》, 2019, 25(4): 460-464.
[12]	李秀明, 刘罡. 脑梗死后囊腔微环境分析[J]. 《中国康复理论与实践》, 2019, 25(11): 1293-1302.
[13]	杨智权, 刘爱贤, 聂忆秋. 脑梗死患者基于跑台步行的步态分析[J]. 《中国康复理论与实践》, 2019, 25(11): 1332-1335.
[14]	王楠, 张立新. 延髓梗死后吞咽障碍的研究进展[J]. 《中国康复理论与实践》, 2018, 24(7): 807-811.
[15]	张涛军, 刘向哲, 冯晓东, 丁浩然. 磁共振灌注加权成像观察健脾补肾活血方结合运动疗法对脑梗死患者缺血区血液循环的影响[J]. 《中国康复理论与实践》, 2018, 24(5): 513-516.

蛋白酶体α6亚单位基因1233A/T位点多态性与脑梗死的关系

Relationship of 1233A/T Polymorphism of Proteasome Subunit α Type 6 Gene with Cerebral Infarction

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 15

Metrics

本文评价

推荐阅读 0