12pl3兩基因多態(tài)性位點與云南漢族腦梗死的關(guān)聯(lián)研究
發(fā)布時間：2019-03-04 17:55
【摘要】：目的：研究染色體12p13基因的兩個單核苷酸多態(tài)性位點rs11833579GA和rs12425791GA與云南漢族人的遺傳特征和與腦梗死及其亞型的相關(guān)性。方法：本次實驗研究采用病例-對照設(shè)計原則,采用DNA提取-片段PCR擴(kuò)增-直接測序方法,對來自云南省昆明醫(yī)科大學(xué)第一附屬醫(yī)院神經(jīng)內(nèi)科的115例云南漢族腦梗死患者和65例云南漢族對照組患者進(jìn)行NINJ2的兩個單核苷酸多態(tài)性位點rs11833579GA和rs12425791GA基因檢測并對數(shù)據(jù)進(jìn)行關(guān)聯(lián)性分析。結(jié)果：腦梗死病例組與對照組的rs11833579GA和rs12425791GA兩單核苷酸多態(tài)性位點的三種基因型AA、GA、GG的頻率均0.05,其分布符合Hardy-Weinberg平衡定律,所以可代表該地區(qū)漢族人群的遺傳特征。云南昆明地區(qū)的漢族人rs 11833579GA及rsl2425791 GA位點的次要等位基因頻率(Minor Allele Frequency, MAF)分別為33.8%和35.2%,與白人、黑人、荷蘭人、日本人及中國其他地區(qū)人群的MAF有顯著差異。腦梗死組及其亞型分組、性別分層與對照組的基因頻率對比均無統(tǒng)計學(xué)差異(rs1 1833579的次要等位基因頻率33.8%比人類心臟和衰老的遺傳流行病學(xué)研究協(xié)會研究及國際卒中遺傳學(xué)協(xié)會研究的結(jié)果高出了10%,但與中國北京漢族人的研究結(jié)果相似(30%)。rs12425791GA的次要等位基因頻率為35.2%,比國際人類基因組單倍體型圖計劃(HapMap)中北京漢族的MAF(24%),臺灣腦卒中遺傳學(xué)協(xié)會研究中的樣本的MAF (23.5%)、GHARGE研究中的歐洲人樣本的MAF(19%)、ISGC的MAF(18-22%)及瑞典人口的MAF(16-19%)高10%-20%)。Logistic回歸分析校正年齡、性別、高血壓、血脂代謝異常、吸煙及飲酒等危險因素后,rsl2425791GA位點AA基因型的腦梗死發(fā)病率升高(OR=4.858; 95CI,2.453-9.618; P=0.035),尤其是對大動脈粥樣硬化性腦卒中(OR=4.958; 95%CI,2.562-9.721; P=0.027)。進(jìn)行年齡分層Logistic回歸分析,男性亞組的腦梗死發(fā)病率進(jìn)一步升高(OR=5.112,95%CI,2.422-8.163; P=0.025),大動脈粥樣硬化腦卒中的風(fēng)險也升高(OR=5.147; 95%CI,1.536-8.731; P=0.043) rs11833579GA位點對腦卒中患病無明顯影響。結(jié)論：1. Rs11833579GA和rs12425791GA兩位點間的基因頻率分布存在種族間差異；2.PCR擴(kuò)增條帶的片段長度結(jié)果與測序結(jié)果符合,本實驗所采用的試驗方法可靠,結(jié)果可信；3.Rs11833579GA多態(tài)性位與與昆明地區(qū)漢族人群腦梗死發(fā)病風(fēng)險無關(guān)；rs12425791GA多態(tài)性位點的AA基因型和A等位基因頻率與昆明地區(qū)漢族人群腦梗死發(fā)病正相關(guān),尤其是增加男性動脈硬化型腦卒中的發(fā)病風(fēng)險。
[Abstract]:Aim: to study the genetic characteristics of two single nucleotide polymorphisms (rs11833579GA and rs12425791GA) of chromosome 12p13 gene and their association with cerebral infarction and its subtypes in Yunnan Han population. Methods: the principle of case-control design was adopted in this experiment. DNA extraction, fragment PCR amplification and direct sequencing were used. Two single nucleotide polymorphism sites (rs11833579GA and rs12425791GA) of NINJ2 were detected in 115 patients with cerebral infarction in Yunnan Han nationality and 65 controls in the Department of Neurology, first affiliated Hospital of Kunming Medical University, Yunnan Province. Data for correlation analysis. Results: the frequencies of the three genotypes of rs11833579GA and rs12425791GA were 0.05 in the patients with cerebral infarction and those in the control group. The distribution of AA,GA,GG was in accordance with the law of Hardy-Weinberg equilibrium, so it could represent the genetic characteristics of Han population in this area. The secondary allele frequencies of rs 11833579GA and rsl2425791 GA in Kunming area of Yunnan were 33.8% and 35.2%, respectively, which were significantly different from those of white, black, Dutch, Japanese and other regions of China. Cerebral infarction group and its subtypes, There was no significant difference in gene frequencies between sex stratification and controls (33.8% of the secondary allele frequency of rs1 1833579 was higher than that of the Association for genetic Epidemiology of Human Heart and Aging and Research by the International Association of Stroke Genetics. The result is 10% higher, The secondary allele frequency of rs12425791GA was 35.2%, which was higher than that of MAF (24%) in Beijing Han nationality in the International Human Genome haplotype Mapping Project (HapMap). MAF of the samples from the Taiwan Association of Stroke Genetics (23.5% of the European sample in the), GHARGE study) (19%), MAF (18? 22%) in ISGC and MAF (16? 19%) in Swedish population were 10%? 20% higher than those in Sweden. Logistic regression analysis showed that age, sex, hypertension, dyslipidemia, smoking and alcohol consumption were adjusted for risk factors, such as age, sex, hypertension, dyslipidemia, smoking and drinking. Increased incidence of cerebral infarction in rsl2425791GA locus AA genotype (OR=4.858;) 95CI, 2.453 / 9.618; P = 0.035), especially in patients with major atherosclerotic stroke (OR=4.958; 95% CI, 2.562 / 9.721; P = 0.027). Age-stratified Logistic regression analysis showed that the incidence of cerebral infarction was further increased in male subgroup (OR=5.112,95%CI,2.422-8.163; P0. 025), and the risk of major atherosclerotic stroke was also increased (OR=5.147;). 95% CI, 1.536, 8.731, and 0.043) rs11833579GA locus had no significant effect on stroke. Conclusion: 1. There was a racial difference in gene frequency distribution between Rs11833579GA and rs12425791GA, and the results of 2.PCR amplification bands were in agreement with those of sequencing, and the experimental methods used in this study were reliable and reliable. The polymorphism of 3.Rs11833579GA was not associated with the risk of cerebral infarction in Kunming Han population. The frequency of AA genotype and A allele of rs12425791GA polymorphism was positively correlated with the incidence of cerebral infarction in Kunming Han population, especially increased the risk of arteriosclerosis stroke in male.
【學(xué)位授予單位】：昆明醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2015
【分類號】：R743.3
本文編號：2434493
[Abstract]:Aim: to study the genetic characteristics of two single nucleotide polymorphisms (rs11833579GA and rs12425791GA) of chromosome 12p13 gene and their association with cerebral infarction and its subtypes in Yunnan Han population. Methods: the principle of case-control design was adopted in this experiment. DNA extraction, fragment PCR amplification and direct sequencing were used. Two single nucleotide polymorphism sites (rs11833579GA and rs12425791GA) of NINJ2 were detected in 115 patients with cerebral infarction in Yunnan Han nationality and 65 controls in the Department of Neurology, first affiliated Hospital of Kunming Medical University, Yunnan Province. Data for correlation analysis. Results: the frequencies of the three genotypes of rs11833579GA and rs12425791GA were 0.05 in the patients with cerebral infarction and those in the control group. The distribution of AA,GA,GG was in accordance with the law of Hardy-Weinberg equilibrium, so it could represent the genetic characteristics of Han population in this area. The secondary allele frequencies of rs 11833579GA and rsl2425791 GA in Kunming area of Yunnan were 33.8% and 35.2%, respectively, which were significantly different from those of white, black, Dutch, Japanese and other regions of China. Cerebral infarction group and its subtypes, There was no significant difference in gene frequencies between sex stratification and controls (33.8% of the secondary allele frequency of rs1 1833579 was higher than that of the Association for genetic Epidemiology of Human Heart and Aging and Research by the International Association of Stroke Genetics. The result is 10% higher, The secondary allele frequency of rs12425791GA was 35.2%, which was higher than that of MAF (24%) in Beijing Han nationality in the International Human Genome haplotype Mapping Project (HapMap). MAF of the samples from the Taiwan Association of Stroke Genetics (23.5% of the European sample in the), GHARGE study) (19%), MAF (18? 22%) in ISGC and MAF (16? 19%) in Swedish population were 10%? 20% higher than those in Sweden. Logistic regression analysis showed that age, sex, hypertension, dyslipidemia, smoking and alcohol consumption were adjusted for risk factors, such as age, sex, hypertension, dyslipidemia, smoking and drinking. Increased incidence of cerebral infarction in rsl2425791GA locus AA genotype (OR=4.858;) 95CI, 2.453 / 9.618; P = 0.035), especially in patients with major atherosclerotic stroke (OR=4.958; 95% CI, 2.562 / 9.721; P = 0.027). Age-stratified Logistic regression analysis showed that the incidence of cerebral infarction was further increased in male subgroup (OR=5.112,95%CI,2.422-8.163; P0. 025), and the risk of major atherosclerotic stroke was also increased (OR=5.147;). 95% CI, 1.536, 8.731, and 0.043) rs11833579GA locus had no significant effect on stroke. Conclusion: 1. There was a racial difference in gene frequency distribution between Rs11833579GA and rs12425791GA, and the results of 2.PCR amplification bands were in agreement with those of sequencing, and the experimental methods used in this study were reliable and reliable. The polymorphism of 3.Rs11833579GA was not associated with the risk of cerebral infarction in Kunming Han population. The frequency of AA genotype and A allele of rs12425791GA polymorphism was positively correlated with the incidence of cerebral infarction in Kunming Han population, especially increased the risk of arteriosclerosis stroke in male.
【學(xué)位授予單位】：昆明醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2015
【分類號】：R743.3
【參考文獻(xiàn)】
相關(guān)期刊論文 前1條
1 葉松道;張陽;蔡振寨;;慢性乙型肝炎患者白細(xì)胞介素12B+1188(A/C)位點基因多態(tài)性分析[J];解放軍醫(yī)學(xué)雜志;2010年10期
，本文編號：2434493
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