新疆维吾尔族、汉族缺血性脑卒中与PCSK9基因多态性的关系

发布时间：2018-05-14 17:15

本文选题：缺血性脑卒中 + PCSK9　；参考：《新疆医科大学》2014年硕士论文

【摘要】：目的：探讨新疆维、汉两民族前蛋白转化酶枯草溶菌素9(PCSK9)基因9号外显子I474V (rs652556)位点多态性与缺血性脑卒中(ischemic stroke,IS)的关系,以及缺血性脑卒中的危险因素。方法：选取符合IS的患者407例(汉族219例,维吾尔族188例)及正常对照组425例(汉族255例,维吾尔族170例),应用聚合酶链反应-限制性片段长度多态性测定rs652556位点基因多态性,部分标本进行测序,并对IS的危险因素进行统计学分析。结果：(1)体重指数、吸烟史、饮酒史、高血压、高脂血症、糖尿病与IS存在统计学差异(P0.05),IS相关危险因素—多因素Logistic回归分析显示：高血压(OR=5.605,P0.001)、糖尿病(OR=3.026,P0.001)、吸烟史(OR=2.781,P0.001)、饮酒史(OR=2.770,P0.001)、高脂血症(OR=2.456,P0.001)、体重指数(OR=1.703,P=0.006)与IS的发生存在统计学差异。(2)IS组和对照组Ⅱ及Ⅳ基因型之间TG、HDL-C水平的差异无统计学意义(P0.05)；TC、LDL-C水平的差异有统计学意义(P0.05)； IS组和对照组之间Ⅱ基因型的TC、LDL-C、HDL-C水平差异均有统计学意义(P0.05)；IS组IV基因型TC、LDL-C的水平明显高于对照组,差异有统计学意义(P0.05)。(3)IS组和对照组在1474V位点的基因型和等位基因频率分布差异有统计学意义(P=0.00)。(4)新疆维吾尔族、汉族间1474V位点的基因型和等位基因频率的分布分别为(27.7%、11.4%,χ2=17.40,P=0.00；12.9%、6.9%,χ2=5.57,P=0.018),差异有统计学意义；1474V位点的等位基因频率分布分别为(13.8%、5.7%,χ2=15.58,P=0.00；6.5%、3.1%,χ2=5.31,P=0.021),差异有统计学意义。(5)新疆维吾尔族I474V位点的基因型和等位基因频率的分布分别为(27.7%、12.9%,χ2=11.79,P=0.001；13.8%、6.5%,χ2=10.44,P=0.001),差异有统计学意义；但汉族中1474V位点的基因型和等位基因频率的分布差异无统计学意义(P0.05)。结论：高血压、糖尿病、高脂血症、饮酒史、体重指数是IS的重要危险因素：rs652556位点主要以Ⅱ和Ⅳ基因型存在,IS患者rs652556位点多态性与TC、LDL-C水平升高相关联,新疆维、汉两民族rs652556位点多态性存在差异,新疆维吾尔族PCSK9基因rs652556位点多态性与IS的发生有相关性,Ⅳ可能是缺血性脑卒中的易感基因型,V等位基因可能是新疆维吾尔族遗传易感标
[Abstract]:Objective: To investigate the relationship between the polymorphism of the I474V (rs652556) loci of the former protein invertase (PCSK9) 9 (PCSK9) gene and the ischemic stroke (ischemic stroke, IS) and the risk factors of ischemic stroke in Xinjiang. Methods: 407 patients (219 Han, 188 Uygur) and normal patients with IS were selected. In the control group, 425 cases (255 Han, 170 Uygur) were used to determine the polymorphism of rs652556 locus by polymerase chain reaction restriction fragment length polymorphism, some specimens were sequenced and the risk factors of IS were statistically analyzed. Results: (1) body mass index, smoking history, drinking history, hypertension, hyperlipidemia, diabetes and IS Statistical difference (P0.05), IS related risk factors - multiple factor Logistic regression analysis showed: hypertension (OR=5.605, P0.001), diabetes (OR=3.026, P0.001), smoking history (OR=2.781, P0.001), drinking history (OR=2.770, P0.001), hyperlipidemia, body mass index and the occurrence of statistical difference. (2) group and There was no significant difference in the level of TG between the control group II and the IV genotypes (P0.05), and the difference in the level of TC, LDL-C was statistically significant (P0.05). The level of TC, LDL-C, HDL-C between the IS group and the control group was statistically significant (P0.05), and the level of the IS group was significantly higher than that of the control group. Study significance (P0.05). (3) there was significant difference in genotype and allele frequency distribution between IS group and control group at 1474V locus (P=0.00). (4) the distribution of genotype and allele frequencies of 1474V loci between Xinjiang Uygur and Han nationality were (27.7%, 11.4%, X 2=17.40, P=0.00; 12.9%, 6.9%, X 2=5.57, P=0.018), and the difference was statistically significant Significance; the distribution of allele frequencies of 1474V loci were (13.8%, 5.7%, X 2=15.58, P=0.00; 6.5%, 3.1%, X 2=5.31, P=0.021), the difference was statistically significant. (5) the distribution of genotype and allele frequencies of I474V loci in Xinjiang Uygur were respectively (27.7%, 12.9%, X 2=11.79, P=0.001; 13.8%, 6.5%, Chi 2=10.44, P=0.001), and there were differences There is no significant difference in the distribution of genotype and allele frequencies of 1474V loci in the Han nationality (P0.05). Conclusion: hypertension, diabetes, hyperlipidemia, drinking history, and body mass index are important risk factors for IS: the rs652556 locus is mainly in the presence of type II and IV genotypes, rs652556 polymorphism in IS patients and TC, LDL-C water The polymorphism of rs652556 loci in Xinjiang Uygur and Han two is different. The polymorphism of the PCSK9 gene rs652556 loci in the Xinjiang Uygur nationality is related to the occurrence of IS. The IV may be the susceptible genotype of the ischemic stroke, and the V allele may be the genetic susceptibility mark of the Uygur in Xinjiang.

【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R743.3

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