APOB rs515135位点多态性在北方汉族人群中的分布及与血脂水平相关性研究

The Distribution of rs515135 Polymorphism in the APOB Gene among Han Chinese in Northern and its Correlation with Blood Lipid Levels

为研究APOB rs515135位点多态性在北方汉族人群中的分布情况及其与血脂水平的相关性。采用MALDI-TOF MS方法对540例高脂血症患者和261例正常对照者的APOB基因rs515135位点的单核苷酸多态性进行基因分型检测,采用酶法测定血脂水平。结果显示:APOB基因rs515135位点的GG、GA、AA3种基因型在高脂血症组的频率分别为83.0%、16.5%、0.6%,在正常对照组中的频率分别为76.6%、21.8%、1.5%,在两组人群中的分布无显著性差异(P>0.05),等位基因G、A在病例组和对照组中分布频率分别为91.2%、8.8%和87.5%、12.5%,其中A等位基因频率在两组人群中的分布有统计学意义(P<0.05),OR值为0.678,说明A等位基因为高脂血症的保护性因素。rs515135位点在人群中的分布符合Hardy-Weinberg平衡,具有较好的人群代表性。由此可知,APOB基因rs515135位点的基因型在中国汉族人群中的分布无差异,其中A等位基因的分布有差异,是高脂血症的保护性因素。

Objective to study APOB rs515135 Polymorphism＇s distribution in Han population in northern area and the correlation with blood lipid levels. Methods ： Single nueleotide polymorphism genotype of APOB gene locus rs515135 was analyzed in 540 patients with hyperlipidemia and 261 normal controls by using MALDI-TOF MS,The blood lipid level detected by enzymic method. The genotypes frequency of ApoB gene locus rs515135 in the hyperllpldemla group were 83.0 %, 16. 5% ,0.6% and the frequency of the normal control group were 76.6%,21.8%,1.5 % There was no significantly different for distribution of three genotype of the SNPs between the hyperlipidemia group and normal group（P〉0.05）. The frequency of the allele gene G, A in the two groups were 91.2 %,8.8 % and 87.5 %, 12.5%. There was significantly different for distribution of genotype of A allele gene between the hyperlipidemia group and normal group（P〈0.05） ,the value of OR is 0. 678. So,it is said that the allele gene of A is the risk factor of hyperlipidemia. The frequency of three genotype of the SNPs complied well with the Hardy-Wein- berg equilibrium in normal group. There was no significant difference for distribution of the loci of APOB gene rs515135＇s genotypes. There were significant differences for the distribution of the allele gene of A,and allele gene of A might be the protective factor for hyperlipidemia.