对Tangier病病因的研究,发现ATP结合盒转运蛋白A1(ATP binding cassette transport protein A1,ABCA1)在胆固醇逆向转运(reverse cholesterol transport,RCT)中起重要作用。ABCA1主要通过核受体PPARs途径发挥作用。ABCA1基因变异影响其...对Tangier病病因的研究,发现ATP结合盒转运蛋白A1(ATP binding cassette transport protein A1,ABCA1)在胆固醇逆向转运(reverse cholesterol transport,RCT)中起重要作用。ABCA1主要通过核受体PPARs途径发挥作用。ABCA1基因变异影响其功能。展开更多
BACKGROUND： Studies have shown that adenosine triphosphate-binding cassette transporter 1 （ABCA1） gene influences atherosclerosis. Studies have also demonstrated that cerebral infarction does not occur often in pre...BACKGROUND： Studies have shown that adenosine triphosphate-binding cassette transporter 1 （ABCA1） gene influences atherosclerosis. Studies have also demonstrated that cerebral infarction does not occur often in pre-menopausal women. It has been, therefore, assumed that sex plays a role in R219K polymorphism of ABCA1 gene and cerebral infarction. OBJECTIVE： To explore the relationship between lipid metabolism-correlated R219K polymorphism of ABCA1 gene, risk factors of cerebral infarction and lipid level, and to determine whether there were significant differences in gender between R219K polymorphism of ABCA1 gene and cerebral infarction. DESIGN, TIME AND SETTING： A multicentral and non-randomized, controlled study based on gene polymorphism was performed at the Chinese National Human Genome Center, and lipid concentrations were measured at Beijing Xuanwu Hospital. Patients with cerebral infarction and healthy subjects were enrolled from eight hospitals of six provinces of China between October 2002 and December 2004. PARTICIPANTS： There were 177 patients in the cerebral infarction group, including 119 males and 58 females, with a mean age of （60 -＋ 13） years, and 234 healthy subjects in the normal control group, including 79 males and 155 females, with a mean age of （58 ± 12） years. METHODS： R219K polymorphism of the ABCA1 gene was detected using polymerase chain reaction-restriction fragment length polymorphism, and blood lipid concentrations were simultaneously measured. MAIN OUTCOME MEASURES： Genotype and allele frequency of R219K polymorphic site, and blood lipid concentrations. RESULTS： RR genotype and R allele frequency of males in the cerebral infarction were significantly greater than males in the normal control group [RR genotype： x2 = 5.305, OR （95% CO, 2.326 （1.120 4.828）, P〈 0.05; R allele： x2= 4.219, OR （95% CO, 1.528 （1.019 2.292）, P〈 0.05]. In addition, RR genotype and R allele frequency of males were significantly greater than females in the cerebra展开更多
文摘对Tangier病病因的研究,发现ATP结合盒转运蛋白A1(ATP binding cassette transport protein A1,ABCA1)在胆固醇逆向转运(reverse cholesterol transport,RCT)中起重要作用。ABCA1主要通过核受体PPARs途径发挥作用。ABCA1基因变异影响其功能。
文摘BACKGROUND： Studies have shown that adenosine triphosphate-binding cassette transporter 1 （ABCA1） gene influences atherosclerosis. Studies have also demonstrated that cerebral infarction does not occur often in pre-menopausal women. It has been, therefore, assumed that sex plays a role in R219K polymorphism of ABCA1 gene and cerebral infarction. OBJECTIVE： To explore the relationship between lipid metabolism-correlated R219K polymorphism of ABCA1 gene, risk factors of cerebral infarction and lipid level, and to determine whether there were significant differences in gender between R219K polymorphism of ABCA1 gene and cerebral infarction. DESIGN, TIME AND SETTING： A multicentral and non-randomized, controlled study based on gene polymorphism was performed at the Chinese National Human Genome Center, and lipid concentrations were measured at Beijing Xuanwu Hospital. Patients with cerebral infarction and healthy subjects were enrolled from eight hospitals of six provinces of China between October 2002 and December 2004. PARTICIPANTS： There were 177 patients in the cerebral infarction group, including 119 males and 58 females, with a mean age of （60 -＋ 13） years, and 234 healthy subjects in the normal control group, including 79 males and 155 females, with a mean age of （58 ± 12） years. METHODS： R219K polymorphism of the ABCA1 gene was detected using polymerase chain reaction-restriction fragment length polymorphism, and blood lipid concentrations were simultaneously measured. MAIN OUTCOME MEASURES： Genotype and allele frequency of R219K polymorphic site, and blood lipid concentrations. RESULTS： RR genotype and R allele frequency of males in the cerebral infarction were significantly greater than males in the normal control group [RR genotype： x2 = 5.305, OR （95% CO, 2.326 （1.120 4.828）, P〈 0.05; R allele： x2= 4.219, OR （95% CO, 1.528 （1.019 2.292）, P〈 0.05]. In addition, RR genotype and R allele frequency of males were significantly greater than females in the cerebra
