KCNMB1和KCNJ11基因多态性与新疆哈萨克族原发性高血压相关性的研究

发布时间：2018-02-21 09:06

  本文关键词： 高血压 钾通道 单核苷酸多态性 哈萨克族　出处：《石河子大学》2016年硕士论文　论文类型：学位论文

【摘要】：目的:探讨新疆哈萨克族人群原发性高血压与内向整流钾离子通道蛋白J亚单位11号成员(KCNJ11)和大电导钙激活钾通道β1亚基(KCNMB1)基因多态性的关联。方法:(1)用血液基因组DNA提取试剂盒提取新疆哈萨克族267例原发性高血压(essential hypertension,EH组)患者和259例血压正常(normotensive group,NT组)者血液中的基因组DNA。(2)采用限制性片段长度多态性聚合酶链式反应(PCR-RFLP)检测KCNJ11-rs5219、KCNJ11-rs2285676和KCNMB1-rs1739136多态性的基因型。(3)通过PCR产物直接测序法验证基因分型结果。(4)采用Hardy-Weinberg平衡检测研究人群是否具有群体代表性。(5)用Excel建立数据库,所有数据均应用SPSS 17.0软件包进行统计分析,并通过非条件Logistic回归分析评价新疆哈萨克族原发性高血压易感基因。结果:(1)KCNMB1(rs11739136)和KCNJ11(rs2285676、rs5219)多态性位点基因型频率在新疆哈萨克族人群中的分布符合Hardy-Weinberg平衡定律(P0.05),具有一定的群体代表性。(2)EH组KCNJ11-rs2285676 CC、(CT+TT)基因型与C、T等位基因频率分别是4.12%、95.88%、28.65%和71.35%,与NT组比较,两组间无统计学差异(P0.05)。(3)KCNMB1-rs11739136 CC、(CT+TT)基因型与C、T等位基因频率分别是70.04%、29.96%、82.58%和17.42%,与NT组比较,两组间无统计学差异(P0.05)。(4)EH组KCNJ11-rs5219 GG、(GA+AA)基因型和G、A等位基因频率分别为34.83%、65.17%、61.42%和38.58%,与NT组比较,两组间差异有统计学意义(P0.05)。携带rs5219-GG基因型个体患高血压的风险是携带(GA+AA)基因型的2.08倍(95%CI:1.40-3.08);携带rs5219-G等位基因个体患高血压的风险是携带A等位基因的1.68倍(95%CI:1.32-2.15)。(5)非条件Logistic回归分析显示BMI(OR=1.09)和KCNJ11-rs5219-GG基因型(OR=2.15)是影响新疆哈萨克族原发性高血压的危险因素。结论:(1)KCNMB1-rs11739136和KCNJ11-rs2285676多态性可能与新疆哈萨克族原发性高血压无关。(2)KCNJ11-rs5219多态性可能与新疆哈萨克族原发性高血压之间存在一定关联,携带GG基因型可能是原发性高血压发病的危险因素。
[Abstract]:Objective: to investigate the association between essential hypertension (EH) and polymorphism of KCNJ11 and KCNMB1 gene in Xinjiang Kazakh population. Extraction of Genomic DNA from Blood of 267 Kazakh patients with essential Hypertension EH and 259 patients with normal Blood pressure (n = 259, normotic Group NT) from Xinjiang Kazak by DNA extraction Kit) using restriction fragment length Polymorphic Polymorphic Polymerase chain reaction (PCR-RFLP). The genotypes of KCNJ11-rs5219- KCNJ11-rs2285676 and KCNMB1-rs1739136 polymorphism were detected. The genotypes of KCNJ11-rs2285676 and KCNJ11-rs2285676 were detected by direct sequencing of PCR products. All the data were analyzed by SPSS 17.0 software package. Logistic regression analysis was used to evaluate the susceptibility to essential hypertension of Kazak nationality in Xinjiang. Results the genotypes of KCNMB1rs11739136) and KCNJ1155676 (rs5219) in Xinjiang Kazakh population were in accordance with the Hardy-Weinberg equilibrium law (P0.05). The frequency of KCNJ11-rs2285676 CCT TT genotype and CTT allele were 4.12% and 95.88% in EH group and 71.35% in NT group, respectively, compared with NT group. There was no significant difference between the two groups in the frequencies of alleles of KCNJ11-rs5219 GGMB-1-rs11739136 CCT (82.58% and 17.42%, respectively), compared with NT group (P 0.055.4EH group), and the frequencies of KCNJ11-rs5219 GGMB1-rs11739136 CCT alleles were 34.83335.171.42% and 38.58%, respectively, compared with the NT group, there was no statistical difference between the two groups. The risk of hypertension in individuals with rs5219-GG genotype was 2.08 times as high as that of GA A genotype, 95% CI: 1.40-3.08%, and 1.68 times that of A allele was 1.68 times higher than that of A allele, and the risk of hypertension was 1.68 times higher than that of A allele. Logistic regression analysis showed that BMIA ORA 1.09) and KCNJ11-rs5219-GG genotype OR2.15) were the risk factors affecting essential hypertension in Kazak nationality of Xinjiang. Conclusion the polymorphism of KCNMB1-rs11739136 and KCNJ11-rs2285676 may not be related to essential hypertension in Xinjiang Kazak nationality. The polymorphism of KCNJ11-rs5219 may be associated with Xinjiang Kazakh nationality. There is a certain association between essential hypertension in the Sark nationality, Carrying GG genotype may be a risk factor for essential hypertension.
【学位授予单位】：石河子大学
【学位级别】：硕士
【学位授予年份】：2016
【分类号】：R544.11
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本文编号：1521552