FTO、MC4R基因多态性与长沙地区汉族人群脑梗死的相关性研究
发布时间：2018-10-19 07:17
【摘要】：目的：探讨FTO基因位点(rs8050136、rs9939609)及MC4R基因位点(rs17782313)的单核苷酸多态性与长沙地区汉族人群脑梗死的相关性及三个位点与脑梗死的中间表型间的交互作用对脑梗死发病的影响。 方法：收集中南大学湘雅三医院神经内科351例脑梗死患者(病例组)及我院健康管理中心417例健康对照人群(对照组)的外周血标本及临床资料。应用聚合酶链反应(PCR)及飞行时间质谱技术(MALDI-TOF-MS)对FTO基因位点(rs8050136、rs9939609)及MC4R基因位点(rs17782313)进行基因分型检测。采用Χ2检验分析三个位点的基因型及等位基因频率在病例组与对照组间的差异；t检验分析以上三个位点与体重、BMI、血脂、血糖、血压间的关系；多因子降维法(MDR)分析三个位点与脑梗死的中间表型间的交互作用对脑梗死发病的影响。 结果：1.FTO基因(rs8050136、rs9939609)及MC4R基因(rs17782313)的基因型及等位基因频率在脑梗死组与对照组间的分布无统计学差异(P0.05)。2.分亚组结果显示：①在脑梗死正常体重组中,rs8050136、rs9939609突变等位基因携带者与非携带者间比较HDL-c的差异有统计学意义(P=0.035,0.037)；rsl7782313突变等位基因携带者与非携带者间比较LDL-c的差异有统计学意义(P=0.004)。②在对照超重组中,rs8050136突变等位基因携带者的体重比非携带者的高(P=0.041); rs8050136、rs9939609突变等位基因携带者的BMI比相应位点非携带者的高(P=0.049,0.029)。③在对照正常体重组中,rs8050136、rs9939609突变基因携带者的BMI比相应位点非携带者的高(P=0.030,0.039)；rs9939609突变等位基因携带者的FBS与非携带者间的差异有统计学意义(P=0.029)。3.MDR分析得到rs8050136、高血压病、HDL-c水平交互作用组成的模型对脑梗死易感性呈强阳性作用(OR=5.4559,95%CI=3.9805-7.4781, P0.0001)。 结论：1.FTO基因(rs8050136、rs9939609)、MC4R基因(rs17782313)的单位点多态性可能与湖南长沙地区汉族人群脑梗死的发生无关。2.FTO基因rs8050136可能与HDL-c、BMI、体重有关,FTO基因rs9939609可能与HDL-c、BMI、血糖有关,MC4R基因rs17782313可能与LDL-c有关。3.FTO基因rs8050136与高血压病、HDL-c水平的交互作用可能对湖南长沙地区汉族人群脑梗死的发病有显著作用。
[Abstract]:Objective: to investigate the relationship between single nucleotide polymorphisms (SNP) of FTO gene locus (rs8050136,rs9939609) and MC4R locus (rs17782313) and cerebral infarction in Changsha Han population, and the effect of interaction between the three loci and the intermediate phenotypes of cerebral infarction on the pathogenesis of cerebral infarction. Methods: the peripheral blood samples and clinical data of 351 patients with cerebral infarction (case group) and 417 healthy controls (control group) were collected from Department of Neurology, Xiangya third Hospital, Central South University. Polymerase chain reaction (PCR) and time of flight mass spectrometry (MALDI-TOF-MS) were used to detect the genotyping of FTO loci (rs8050136,rs9939609) and MC4R loci (rs17782313). The difference of genotype and allele frequency between the three loci was analyzed by X 2 test and t test was used to analyze the relationship between the above three loci and body weight, BMI, blood lipid, blood glucose and blood pressure. The effect of interaction between the three loci and the intermediate phenotypes of cerebral infarction on the pathogenesis of cerebral infarction was analyzed by multivariate dimensionality reduction method (MDR). Results: the genotype and allele frequency of 1.FTO gene (rs8050136,rs9939609) and MC4R gene (rs17782313) were not significantly different between cerebral infarction group and control group (P0.05). The results of subgroup showed that: 1 in the normal body weight group of cerebral infarction, the difference of HDL-c between the carriers of rs8050136,rs9939609 mutation allele and non-carriers was statistically significant (P0. 035 / 0. 037); The difference of LDL-c between carriers of rsl7782313 mutation and non-carriers was statistically significant (P0. 004). 2 in the control superrecombination, the weight of carriers with rs8050136 mutation alleles was higher than that of non carriers (P0. 041), and the BMI of carriers with rs8050136,rs9939609 mutation alleles was higher than that of non carriers (P0. 041). The BMI of the carriers with rs8050136,rs9939609 mutation gene was higher than that of the non-carriers at the corresponding loci (P0. 049 and 0. 029). 3 in the normal body weight control group, the BMI of the carriers with rs8050136,rs9939609 mutation gene was higher than that of the non carriers at the corresponding loci (P0. 030 and 0. 039). The difference between FBS and non-carriers of rs9939609 mutation alleles was statistically significant (P0.029). 3.MDR analysis showed that the model composed of rs8050136, hypertension and HDL-c level interaction had a strong positive effect on the susceptibility to cerebral infarction (OR=5.4559,95%CI=3.9805-7.4781, P0.0001). Conclusion: the unit point polymorphism of 1.FTO gene (rs8050136,rs9939609) and MC4R gene (rs17782313) may not be associated with the occurrence of cerebral infarction in Han population in Changsha, Hunan province. 2.FTO gene rs8050136 may be related to HDL-c,BMI, body weight, FTO gene rs9939609 may be related to HDL-c,BMI, blood sugar, MC4R gene rs17782313 may be associated with LDL-c. The interaction between rs8050136 of 3.FTO gene and hypertension and HDL-c may play a significant role in the pathogenesis of cerebral infarction in Han nationality population in Changsha, Hunan Province.
【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
本文编号：2280507
[Abstract]:Objective: to investigate the relationship between single nucleotide polymorphisms (SNP) of FTO gene locus (rs8050136,rs9939609) and MC4R locus (rs17782313) and cerebral infarction in Changsha Han population, and the effect of interaction between the three loci and the intermediate phenotypes of cerebral infarction on the pathogenesis of cerebral infarction. Methods: the peripheral blood samples and clinical data of 351 patients with cerebral infarction (case group) and 417 healthy controls (control group) were collected from Department of Neurology, Xiangya third Hospital, Central South University. Polymerase chain reaction (PCR) and time of flight mass spectrometry (MALDI-TOF-MS) were used to detect the genotyping of FTO loci (rs8050136,rs9939609) and MC4R loci (rs17782313). The difference of genotype and allele frequency between the three loci was analyzed by X 2 test and t test was used to analyze the relationship between the above three loci and body weight, BMI, blood lipid, blood glucose and blood pressure. The effect of interaction between the three loci and the intermediate phenotypes of cerebral infarction on the pathogenesis of cerebral infarction was analyzed by multivariate dimensionality reduction method (MDR). Results: the genotype and allele frequency of 1.FTO gene (rs8050136,rs9939609) and MC4R gene (rs17782313) were not significantly different between cerebral infarction group and control group (P0.05). The results of subgroup showed that: 1 in the normal body weight group of cerebral infarction, the difference of HDL-c between the carriers of rs8050136,rs9939609 mutation allele and non-carriers was statistically significant (P0. 035 / 0. 037); The difference of LDL-c between carriers of rsl7782313 mutation and non-carriers was statistically significant (P0. 004). 2 in the control superrecombination, the weight of carriers with rs8050136 mutation alleles was higher than that of non carriers (P0. 041), and the BMI of carriers with rs8050136,rs9939609 mutation alleles was higher than that of non carriers (P0. 041). The BMI of the carriers with rs8050136,rs9939609 mutation gene was higher than that of the non-carriers at the corresponding loci (P0. 049 and 0. 029). 3 in the normal body weight control group, the BMI of the carriers with rs8050136,rs9939609 mutation gene was higher than that of the non carriers at the corresponding loci (P0. 030 and 0. 039). The difference between FBS and non-carriers of rs9939609 mutation alleles was statistically significant (P0.029). 3.MDR analysis showed that the model composed of rs8050136, hypertension and HDL-c level interaction had a strong positive effect on the susceptibility to cerebral infarction (OR=5.4559,95%CI=3.9805-7.4781, P0.0001). Conclusion: the unit point polymorphism of 1.FTO gene (rs8050136,rs9939609) and MC4R gene (rs17782313) may not be associated with the occurrence of cerebral infarction in Han population in Changsha, Hunan province. 2.FTO gene rs8050136 may be related to HDL-c,BMI, body weight, FTO gene rs9939609 may be related to HDL-c,BMI, blood sugar, MC4R gene rs17782313 may be associated with LDL-c. The interaction between rs8050136 of 3.FTO gene and hypertension and HDL-c may play a significant role in the pathogenesis of cerebral infarction in Han nationality population in Changsha, Hunan Province.
【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
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相关期刊论文 前2条
1 ;FTO Polymorphisms Are Associated with Obesity But Not with Diabetes in East Asian Populations:A Meta-analysis[J];Biomedical and Environmental Sciences;2009年06期
2 中国肥胖问题工作组数据汇总分析协作组;我国成人体重指数和腰围对相关疾病危险因素异常的预测价值:适宜体重指数和腰围切点的研究[J];中华流行病学杂志;2002年01期
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