期刊文献+

COL1A2基因rs42524位点多态性与原发性脑出血的相关性研究 被引量:1

Relationship between the rs42524 polymorphism of COL1A2 gene and primary intracerebral hemorrhage
下载PDF
导出
摘要 目的在高血压动脉粥样硬化过程中,胶原沉积过少导致脑出血,在原发性脑出血患者中检测与分析Ⅰ型胶原蛋白α2链(COL1A2)基因rs42524位点多态性。方法利用聚合酶链式反应-限制性酶切方法,比较山东地区汉族人群中393例原发性脑出血与476例正常对照之间COL1A2基因rs42524位点的基因型及等位基因频率的构成。结果在原发性脑出血组和对照组之间rs42524位点的基因型频率分布有显著差异(χ2=16.33,P<0.001),C等位基因频率分布也有显著差异(χ2=15.99;P<0.001;优势比2.322;95%可信区间1.521~3.547)。用Logistic回归纠正性别、年龄因素结果没有改变。结论在山东汉族人群中原发性脑出血组和对照组之间COL1A2基因的rs42524位点多态性差异有统计学意义,COL1A2基因rs42524位点多态性可能是原发性脑出血的致病因素。 Objective To study and analyze the rsd2524 polymorphism of the type I collagen alpha 2 (COL1A2) gene in primary intraeerebral hemorrhage. Methods The rs42524 polymorphism of COL1A2 was identified by polymerase chain reaction-based restriction analysis in genomie DNA of 379 patients with primary intracerebral and 476 healthy controls among Han nationality in Shandong area. Differences in genotypie and allelie frequencies between the cases and controls were evaluated with the chi-square test. Results There was significant difference in the genotype distribution ( chi-square = 16.33, P 〈 0. 001 ) and allelie frequencies ( chi- square, 15.99; P 〈0. 1301; odds ratio, 2. 322; 95% CI, 1. 521 to 3. 547) between primary intraeerebral hemorrhagic cases and healthy controls in the rs42524 polymorphism of COL1A2 gene. Adjustment for age and sex using Logistic regression did not change the conclusion. Conclusion There is a significant difference in rs42524 polymorphism of COL1A2 between primary intracerebral hemorrhage and healthy controls among Han nationality in Shandong area. The rs42524 polymorphism of the COL1A2 gene can be a genetic risk factor for primary intraeerebral hemorrhage.
出处 《中华神经外科疾病研究杂志》 CAS 2010年第1期54-57,共4页 Chinese Journal of Neurosurgical Disease Research
基金 国家自然科学基金资助项目(30973109) 山东省科技厅科技攻关基金重点资助项目(2004GG2202140)
关键词 卒中 脑出血 Ⅰ型胶原蛋白α2链基因 单核苷酸多态性 遗传学 Stroke Intracerebral hemorrhage COL1A2 Single nueleotide polymorphism Genetics
  • 相关文献

参考文献15

  • 1Zhang XH, Guan T, Man J, et al. Disparity and its time trends in stroke morlality between urban and rural populations in China 1987 to 2001 : changing patterns and their implications for publie health policy [J]. Stroke, 2007, 38(12) : 3139 -3144.
  • 2卢旺盛,田增民,赵全军,刘爽,李志超,陈涛,郭欣茹.立体定向神经干细胞移植治疗脑出血后遗症疗效分析[J].中华神经外科疾病研究杂志,2008,7(6):502-504. 被引量:21
  • 3Auer RN, Sutherland GR. Primary intracerebral hemorrhage palhophysiology [J]. Can J Neurol Sci, 2005, 32 (Suppl 2) : 3 - 12.
  • 4Dalgleish R. The human type Ⅰ collagen mutation database [ J ].Nucleic Acids Res, 1997, 25( 1 ) : 181 - 187.
  • 5朱玉方,庞琦.胶原蛋白基因与颅内动脉瘤形成的关系[J].中国脑血管病杂志,2008,5(5):233-236. 被引量:5
  • 6Zhu Y, Li W, Ge M, et al. Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population [ J ]. J Neurosurg, 2008, 109(6): 1060-1064.
  • 7Zhang B, Fugleholm K, Day LB, et al. Molecular pathogenesis of subarachnoid haemorrhage [ J ]. Int J Biochem Cell Biol, 2003, 35 (9) : 1341 - 1360.
  • 8张宇,诸葛启钏,瞿宣兴,赵继宗,郑伟明,钟鸣,吴近森.脑动脉瘤病理改变与基质金属蛋白酶(MMPs)的表达[J].温州医学院学报,2003,33(2):94-96. 被引量:13
  • 9Ruigrok YM, Rinkel GJ, Wijmenga C. Genetics of intracranial aneurysms [J]. Lancet Neurol, 2005, 4(3): 179- 189.
  • 10Gajko-Galicka A. Mutations in type Ⅰ collagen genes resulting in osteogenesis imperfecta in humans [ J]. Acta Biochim Pol, 2002, 49 (2) : 433 -441.

二级参考文献58

  • 1LIANG Peng,JIN Lian-hong,LIANG Tao,LIU En-zhong,Shi-guang.Human neural stem cells promote corticospinal axons regeneration and synapse reformation in injured spinal cord of rats[J].Chinese Medical Journal,2006(16):1331-1338. 被引量:30
  • 2杨东波,李永利,杨立庄,蒋传路,叶伟.神经干细胞移植治疗大鼠脑缺血再灌注损伤实验研究[J].中华神经外科疾病研究杂志,2006,5(5):434-437. 被引量:15
  • 3[1]Cohen JR, Mandell C, Margolis I, et al. Altered aortic protease and antiprotease activity in patients with ruptured abdominal aortic aneurysms[J]. Surg Gynecol Obstet, 1987,164(4) :355 - 358.
  • 4[2]Stehbens WE. Pathology and pathogenesis of intracranial berry aneurysms[J]. Neurol Res, 1990,12(1) :29- 34.
  • 5[3]Kosierkiewicz TA, Factor SM, Dickson DW. Immunocytochemical studies of atherosclerotic leisions of cerebral berry aneurysms[J]. J Neuropathol Exp Neurol, 1994,53(4) :399 - 406.
  • 6[4]Brown PD, Levy AT, Margulies IM, et al. Independent expression and cellular processing of Mr 72000 type Ⅳ collagenase and interstitial collagenase in human tumorigenic cell lines[J]. Cancer Res, 1990,50(19) :6184 - 6191.
  • 7[5]Davies MJ, Richardson PD, Woolf N, et al. Risk of thrombosis in human atherosclerotic plaques: role of extracellular lipid , macrophage , and smooth muscle cell content[J]. Br Heart J, 1993,69(5):377-381.
  • 8[6]Galis ZS, Sukhova GK, Lark MW, et al. Increased expression of matrix metalloproteinases and matrix degrading activity in vulnerable regions of human atherosclerotic plaques[J]. J Clin Invest, 1994,94(6):2394-2503.
  • 9[7]Schievink WI, Prakash UB, Piepgras DG, et al. Alpha 1-antitrypsin deficiency in intracranial aneurysms and cervical artery dissection[J].Lancet, 1994,343 (8895) :452 - 453.
  • 10[8]Schievink WI, Katzmann JA, Piepgras DG, et al. Alpha 1-antitrypsin phenotypes among patients with intracranial aneurysms[J]. J Neurosurg, 1996,84(5) :781 - 784.

共引文献33

同被引文献5

  • 1葛明旭,朱玉方,庞琦,王汉斌,滕宏涛.Ⅲ型胶原蛋白COL3A1基因多态性与颅内动脉瘤的关系[J].中国脑血管病杂志,2008,5(12):560-562. 被引量:3
  • 2王荣春,徐德昌,秦兰霞.胶原蛋白与Ⅵ型胶原蛋白的结构概述[J].生物信息学,2004,2(4):30-33. 被引量:7
  • 3Paiicer MJ, Deshpande C,Rankin J,et al. 2011. Type 1 col-lagenopathy presenting with a ussell - Silver phenotype. AmericanJournal of Medical Genetics Part A, 155A(6) :1414 - 1418.
  • 4Malfait F, Symoens S, De Backer J, et al. 2007. Three aiinine tocysteine substitutions in the pro - alpha (D - collagen chain causeEhlere - Danlos syndrome with a propensity to arterial rupture in earlyadulthood. Humam Mutation,28(4) :387 -395.
  • 5王培林,傅松滨主编.2011.医学遗传学(第三版).北京:科学出版社.

引证文献1

二级引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部