12pl3两基因多态性位点与云南汉族脑梗死的关联研究
发布时间：2019-03-04 17:55
【摘要】：目的：研究染色体12p13基因的两个单核苷酸多态性位点rs11833579GA和rs12425791GA与云南汉族人的遗传特征和与脑梗死及其亚型的相关性。方法：本次实验研究采用病例-对照设计原则,采用DNA提取-片段PCR扩增-直接测序方法,对来自云南省昆明医科大学第一附属医院神经内科的115例云南汉族脑梗死患者和65例云南汉族对照组患者进行NINJ2的两个单核苷酸多态性位点rs11833579GA和rs12425791GA基因检测并对数据进行关联性分析。结果：脑梗死病例组与对照组的rs11833579GA和rs12425791GA两单核苷酸多态性位点的三种基因型AA、GA、GG的频率均0.05,其分布符合Hardy-Weinberg平衡定律,所以可代表该地区汉族人群的遗传特征。云南昆明地区的汉族人rs 11833579GA及rsl2425791 GA位点的次要等位基因频率(Minor Allele Frequency, MAF)分别为33.8%和35.2%,与白人、黑人、荷兰人、日本人及中国其他地区人群的MAF有显著差异。脑梗死组及其亚型分组、性别分层与对照组的基因频率对比均无统计学差异(rs1 1833579的次要等位基因频率33.8%比人类心脏和衰老的遗传流行病学研究协会研究及国际卒中遗传学协会研究的结果高出了10%,但与中国北京汉族人的研究结果相似(30%)。rs12425791GA的次要等位基因频率为35.2%,比国际人类基因组单倍体型图计划(HapMap)中北京汉族的MAF(24%),台湾脑卒中遗传学协会研究中的样本的MAF (23.5%)、GHARGE研究中的欧洲人样本的MAF(19%)、ISGC的MAF(18-22%)及瑞典人口的MAF(16-19%)高10%-20%)。Logistic回归分析校正年龄、性别、高血压、血脂代谢异常、吸烟及饮酒等危险因素后,rsl2425791GA位点AA基因型的脑梗死发病率升高(OR=4.858; 95CI,2.453-9.618; P=0.035),尤其是对大动脉粥样硬化性脑卒中(OR=4.958; 95%CI,2.562-9.721; P=0.027)。进行年龄分层Logistic回归分析,男性亚组的脑梗死发病率进一步升高(OR=5.112,95%CI,2.422-8.163; P=0.025),大动脉粥样硬化脑卒中的风险也升高(OR=5.147; 95%CI,1.536-8.731; P=0.043) rs11833579GA位点对脑卒中患病无明显影响。结论：1. Rs11833579GA和rs12425791GA两位点间的基因频率分布存在种族间差异；2.PCR扩增条带的片段长度结果与测序结果符合,本实验所采用的试验方法可靠,结果可信；3.Rs11833579GA多态性位与与昆明地区汉族人群脑梗死发病风险无关；rs12425791GA多态性位点的AA基因型和A等位基因频率与昆明地区汉族人群脑梗死发病正相关,尤其是增加男性动脉硬化型脑卒中的发病风险。
[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.
【学位授予单位】：昆明医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R743.3
本文编号：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.
【学位授予单位】：昆明医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R743.3
【参考文献】
相关期刊论文 前1条
1 叶松道;张阳;蔡振寨;;慢性乙型肝炎患者白细胞介素12B+1188(A/C)位点基因多态性分析[J];解放军医学杂志;2010年10期
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