本文選題：缺血性腦卒中 + PCSK9�。� 參考：《新疆醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的：探討新疆維、漢兩民族前蛋白轉(zhuǎn)化酶枯草溶菌素9(PCSK9)基因9號(hào)外顯子I474V (rs652556)位點(diǎn)多態(tài)性與缺血性腦卒中(ischemic stroke,IS)的關(guān)系,以及缺血性腦卒中的危險(xiǎn)因素。方法：選取符合IS的患者407例(漢族219例,維吾爾族188例)及正常對(duì)照組425例(漢族255例,維吾爾族170例),應(yīng)用聚合酶鏈反應(yīng)-限制性片段長(zhǎng)度多態(tài)性測(cè)定rs652556位點(diǎn)基因多態(tài)性,部分標(biāo)本進(jìn)行測(cè)序,并對(duì)IS的危險(xiǎn)因素進(jìn)行統(tǒng)計(jì)學(xué)分析。結(jié)果：(1)體重指數(shù)、吸煙史、飲酒史、高血壓、高脂血癥、糖尿病與IS存在統(tǒng)計(jì)學(xué)差異(P0.05),IS相關(guān)危險(xiǎn)因素—多因素Logistic回歸分析顯示：高血壓(OR=5.605,P0.001)、糖尿病(OR=3.026,P0.001)、吸煙史(OR=2.781,P0.001)、飲酒史(OR=2.770,P0.001)、高脂血癥(OR=2.456,P0.001)、體重指數(shù)(OR=1.703,P=0.006)與IS的發(fā)生存在統(tǒng)計(jì)學(xué)差異。(2)IS組和對(duì)照組Ⅱ及Ⅳ基因型之間TG、HDL-C水平的差異無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)；TC、LDL-C水平的差異有統(tǒng)計(jì)學(xué)意義(P0.05)； IS組和對(duì)照組之間Ⅱ基因型的TC、LDL-C、HDL-C水平差異均有統(tǒng)計(jì)學(xué)意義(P0.05)；IS組IV基因型TC、LDL-C的水平明顯高于對(duì)照組,差異有統(tǒng)計(jì)學(xué)意義(P0.05)。(3)IS組和對(duì)照組在1474V位點(diǎn)的基因型和等位基因頻率分布差異有統(tǒng)計(jì)學(xué)意義(P=0.00)。(4)新疆維吾爾族、漢族間1474V位點(diǎn)的基因型和等位基因頻率的分布分別為(27.7%、11.4%,χ2=17.40,P=0.00；12.9%、6.9%,χ2=5.57,P=0.018),差異有統(tǒng)計(jì)學(xué)意義；1474V位點(diǎn)的等位基因頻率分布分別為(13.8%、5.7%,χ2=15.58,P=0.00；6.5%、3.1%,χ2=5.31,P=0.021),差異有統(tǒng)計(jì)學(xué)意義。(5)新疆維吾爾族I474V位點(diǎn)的基因型和等位基因頻率的分布分別為(27.7%、12.9%,χ2=11.79,P=0.001；13.8%、6.5%,χ2=10.44,P=0.001),差異有統(tǒng)計(jì)學(xué)意義；但漢族中1474V位點(diǎn)的基因型和等位基因頻率的分布差異無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)。結(jié)論：高血壓、糖尿病、高脂血癥、飲酒史、體重指數(shù)是IS的重要危險(xiǎn)因素：rs652556位點(diǎn)主要以Ⅱ和Ⅳ基因型存在,IS患者rs652556位點(diǎn)多態(tài)性與TC、LDL-C水平升高相關(guān)聯(lián),新疆維、漢兩民族rs652556位點(diǎn)多態(tài)性存在差異,新疆維吾爾族PCSK9基因rs652556位點(diǎn)多態(tài)性與IS的發(fā)生有相關(guān)性,Ⅳ可能是缺血性腦卒中的易感基因型,V等位基因可能是新疆維吾爾族遺傳易感標(biāo)
[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.

【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R743.3

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