RYR3基因多态性与动脉粥样硬化性脑梗死的相关性研究

发布时间：2018-11-07 06:51

【摘要】：研究背景与目的：动脉粥样硬化性脑梗死(atherosclerosis cerebral infarction,ACI)是目前世界上危害最大的疾病之一,它的高发病率、高致残率、高死亡率已经严重影响了人类寿命及生活质量。脑梗死病因多样,动脉粥样硬化(atherosclerosis,AS)是其中重要的病因之一。近年来,有国外研究表明RYR3基因通过对Ca2+通道的调节与脑梗死有关,国内尚未见有文献报道。本研究目的在于分析湖南汉族人群RYR3基因的三个单核苷酸多态性位点与动脉粥样硬化性脑梗死的关系。方法：应用病例-对照研究,收集湖南汉族人群中228例动脉粥样硬化性脑梗死患者和233例与之相匹配的正常对照组,采用聚合酶链式反应及基质辅助激光解吸电离飞行时间质谱技术分析RYR3基因的rs877087、rs2229116和rs2132207多态性位点的基因型、等位基因及纯合基因型在动脉粥样硬化性脑梗死组和正常对照组的分布,探讨这三个多态性位点与动脉粥样硬化性脑梗死的关系。结果： 1. RYR3rs877087位点有TT、CT两种基因型,在两组间分布频率：ACI组：90.3%,9.7%,对照组：89.7%,10.3%；等位基因T、C在两组间分布频率：ACI组：95.2%,4.8%；对照组：94.8%,5.2%。分析得出基因型与等位基因在两组中分布无显著差异(P0.05)。 2. RYR3rs2229116位点有AA、AG、GG三种基因型,在两组中的分布频率：ACI组：71.5%、27.2%、1.3%,对照组：71.2%、25.3%、3.4%；A、G等位基因在两组间的分布频率：ACI组：85.1%、14.9%；对照组：83.9%、16.1%。经卡方检验,基因型与等位基因在两组中分布无显著差异(P0.05)。 3. RYR3rs2132207位点有CC、TT、CT基因型频率在两组间分布如下：ACI组：40.9%、10.7%、48.4%；对照组：44.4%、13.8%、41.8%；等位基因T、C在两组间的分布频率：ACI组：34.9%、65.1%；对照组：34.7%、65.3%。分析得出基因型与等位基因在两组间分布无显著差异(P0.05)。 4.RYR3基因rs2229116位点(AG+AA)与纯合型GG在两组的分布频率：ACI组：98.7%、1.3%；对照组：96.6%、3.4%；纯合型AA与(AG+GG)在两组间分布频率：ACI组：71.5%、28.5%；对照组：71.2%、28.8%。纯合基因型在两组间分布无显著差异(P0.05)。rs2132207位点纯合型CC与(TT+CT)在两组间分布频率：ACI组：40.9%、59.1%；对照组：44.4%、55.6%；纯合型TT与(CC+CT)在两组间分布频率如下：ACI组：10.7%、89.3%；对照组：13.8%、86.2%。统计分析得出纯合基因型在两组间分布无显著差异(P0.05)。结论： 1.RYR3基因rs887087位点、rs2229116位点、rs2132207位点基因型及等位基因频率与湖南省汉族人群的动脉粥样硬化性脑梗死可能无显著关系。 2.RYR3基因rs2229116位点、rs2132207位点纯合基因型与湖南省汉族人群的动脉粥样硬化性脑梗死可能无显著相关。
[Abstract]:Background & objective: atherosclerotic cerebral infarction (atherosclerosis cerebral infarction,ACI) is one of the most harmful diseases in the world. Its high morbidity, high disability rate and high mortality rate have seriously affected human life expectancy and quality of life. Atherosclerosis (atherosclerosis,AS) is one of the most important causes of cerebral infarction. In recent years, foreign studies have shown that the regulation of Ca2 channels by RYR3 gene is related to cerebral infarction. The aim of this study was to analyze the relationship between three single nucleotide polymorphisms (SNP) of RYR3 gene and atherosclerotic cerebral infarction (ACI) in Hunan Han population. Methods: a case-control study was conducted in 228 patients with atherosclerotic cerebral infarction and 233 normal controls. Polymerase chain reaction (PCR) and matrix assisted laser desorption ionization time of flight mass spectrometry (TOF-MS) were used to analyze the genotypes of rs877087,rs2229116 and rs2132207 polymorphisms in RYR3 gene. The distribution of alleles and homozygous genotypes in patients with atherosclerotic cerebral infarction (ACI) and normal controls were studied to explore the relationship between these three polymorphism loci and atherosclerotic cerebral infarction (ACI). Results: 1. There were two genotypes of TT,CT in RYR3rs877087 locus. The frequency of distribution between the two groups was as follows: ACI group: 90.3% and 9.7g; control group: 89.7g / 10.3s; The frequency of allele TOC distribution between the two groups: the ACI group: 95.2and 4.8; the control group: 94.8and 5.2. The results showed that there was no significant difference in the distribution of genotype and allele between the two groups (P0.05). 2. There were three genotypes of AA,AG,GG at RYR3rs2229116 locus. The frequency of AA,AG,GG distribution in the two groups was 71.5%, 27.2and 1.3in the ACI group, and the control group was 71.2and 25.3cm / 3.4in the control group. The frequency of allelic distribution between the two groups: ACI group: 85.1% and 14.9%; control group: 83.9% 16.1%. There was no significant difference in genotype and allele distribution between the two groups by chi-square test (P0.05). 3. The frequencies of CC,TT,CT genotype at RYR3rs2132207 locus were as follows: ACI group: 40.910. 7% and 48.4%; control group: 44.4% 13.8% and 41.8%; The frequency of allele TOC distribution between the two groups: in ACI group: 34.9% and 65.1%; in control group, 34.7% and 65.3%, respectively. The results showed that there was no significant difference in the distribution of genotype and allele between the two groups (P0.05). The distribution frequency of rs2229116 locus (AG AA) and homozygous GG of 4.RYR3 gene in two groups: ACI group: 98.7% 1.3g, control group: 96.6cm 3.4g; The distribution frequency of homozygous AA and (AG GG) between the two groups was: ACI group: 71.5% and 28.5%; control group: 71.2% and 28.828%; There was no significant difference in the distribution of homozygous genotype between the two groups (P0.05). The distribution frequency of homozygous CC and (TT CT) at rs2132207 locus between the two groups was as follows: ACI group: 40.9g / 59.1; The frequencies of homozygous TT and (CC CT) in the two groups were as follows: ACI group: 10.7 and 89.3; control group: 13.8and 86.2. Statistical analysis showed that there was no significant difference in the distribution of homozygous genotype between the two groups (P0.05). Conclusion: the genotypes and allelic frequencies of rs887087, rs2229116, rs2132207 loci of 1.RYR3 gene may not be associated with atherosclerotic cerebral infarction in the Han population of Hunan Province. The homozygous genotype of rs2229116 locus and rs2132207 locus of 2.RYR3 gene may not be associated with atherosclerotic cerebral infarction in Hunan Han population.
【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R743.3

【参考文献】