FTO、MC4R基因多態(tài)性與長沙地區(qū)漢族人群腦梗死的相關(guān)性研究
發(fā)布時間：2018-10-19 07:17
【摘要】：目的：探討FTO基因位點(rs8050136、rs9939609)及MC4R基因位點(rs17782313)的單核苷酸多態(tài)性與長沙地區(qū)漢族人群腦梗死的相關(guān)性及三個位點與腦梗死的中間表型間的交互作用對腦梗死發(fā)病的影響。 方法：收集中南大學湘雅三醫(yī)院神經(jīng)內(nèi)科351例腦梗死患者(病例組)及我院健康管理中心417例健康對照人群(對照組)的外周血標本及臨床資料。應(yīng)用聚合酶鏈反應(yīng)(PCR)及飛行時間質(zhì)譜技術(shù)(MALDI-TOF-MS)對FTO基因位點(rs8050136、rs9939609)及MC4R基因位點(rs17782313)進行基因分型檢測。采用Χ2檢驗分析三個位點的基因型及等位基因頻率在病例組與對照組間的差異；t檢驗分析以上三個位點與體重、BMI、血脂、血糖、血壓間的關(guān)系；多因子降維法(MDR)分析三個位點與腦梗死的中間表型間的交互作用對腦梗死發(fā)病的影響。 結(jié)果：1.FTO基因(rs8050136、rs9939609)及MC4R基因(rs17782313)的基因型及等位基因頻率在腦梗死組與對照組間的分布無統(tǒng)計學差異(P0.05)。2.分亞組結(jié)果顯示：①在腦梗死正常體重組中,rs8050136、rs9939609突變等位基因攜帶者與非攜帶者間比較HDL-c的差異有統(tǒng)計學意義(P=0.035,0.037)；rsl7782313突變等位基因攜帶者與非攜帶者間比較LDL-c的差異有統(tǒng)計學意義(P=0.004)。②在對照超重組中,rs8050136突變等位基因攜帶者的體重比非攜帶者的高(P=0.041); rs8050136、rs9939609突變等位基因攜帶者的BMI比相應(yīng)位點非攜帶者的高(P=0.049,0.029)。③在對照正常體重組中,rs8050136、rs9939609突變基因攜帶者的BMI比相應(yīng)位點非攜帶者的高(P=0.030,0.039)；rs9939609突變等位基因攜帶者的FBS與非攜帶者間的差異有統(tǒng)計學意義(P=0.029)。3.MDR分析得到rs8050136、高血壓病、HDL-c水平交互作用組成的模型對腦梗死易感性呈強陽性作用(OR=5.4559,95%CI=3.9805-7.4781, P0.0001)。 結(jié)論：1.FTO基因(rs8050136、rs9939609)、MC4R基因(rs17782313)的單位點多態(tài)性可能與湖南長沙地區(qū)漢族人群腦梗死的發(fā)生無關(guān)。2.FTO基因rs8050136可能與HDL-c、BMI、體重有關(guān),FTO基因rs9939609可能與HDL-c、BMI、血糖有關(guān),MC4R基因rs17782313可能與LDL-c有關(guān)。3.FTO基因rs8050136與高血壓病、HDL-c水平的交互作用可能對湖南長沙地區(qū)漢族人群腦梗死的發(fā)病有顯著作用。
[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.
【學位授予單位】：中南大學
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R743.3
本文編號：2280508
[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.
【學位授予單位】：中南大學
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R743.3
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相關(guān)期刊論文 前2條
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 中國肥胖問題工作組數(shù)據(jù)匯總分析協(xié)作組;我國成人體重指數(shù)和腰圍對相關(guān)疾病危險因素異常的預(yù)測價值:適宜體重指數(shù)和腰圍切點的研究[J];中華流行病學雜志;2002年01期
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