甘肃地区ApoE与SLCO1B1基因多态性及基因型与血脂水平的相关性

目的 了解甘肃地区SLCO1B1和ApoE基因的分布特征及基因型对血脂水平的影响。 方法 采用横断面研究，对甘肃省人民医院心内科的386名患者采用聚合酶链反应进行基因多态性分析并检测其入院血脂水平，统计不同基因型的分布特征，探讨基因多态性与血脂水平的相关性。 结果 与血脂正常组相比较，血脂异常组年龄年轻、体质量指数（BMI）显著增大、TC、TG和LDL-C水平显著升高。SLCO1B1基因型*1b/*1b、*1a/*1b分别占比:42.5%、35.8%，其次是*1b/*15（10.9%）、*1a/*1a（5.4%）、*1a/*15（4.2%）、*15/*15（1.3%），但未检测到*1a/*5、*5/*5、*5/*15基因型。SLCO1B1基因等位基因*1a、*1b、*15占比分别为:25.4%、65.8%、8.8%。388A > G与521T > C突变频率分别为74.6%、8.8%，正常与异常血脂水平组SLCO1B1基因型、等位基因分布差异未见统计学差异。ApoE基因型E3/E3、E3/E4分别占比:74.9%、15.5%；其次是E2/E3（6.7%）、E4/E4（1.3%）、E2/E4（1.0%）、E2/E2（0.5%）；等位基因ε2、ε3、ε4分别占比:4.4%、86.0%、9.5%；正常与异常血脂水平组ApoE基因型、等位基因分布差异未见统计学差异。单因素分析、多因素分析及Pearson相关性分析表明SLCO1B1、Apoe基因型与血脂水平无相关性。 结论 SLCO1B1、APOE基因多态性对血脂水平无相关性。

Association of ApoE and SLCO1B1 gene polymorphisms and genotypes with blood lipid levels in Gansu

AIM AIM To study the distribution characteristics of SLCO1B1 and ApoE genes in the Gansu region and the effects of genotypes on blood lipid levels. METHODS A cross-sectional study was conducted in 386 patients in the Department of Cardiology of Gansu Provincial People's Hospital and polymerase chain reaction (PCR) was used to analyze gene polymorphisms. Blood lipid levels at admission were detected and the distribution characteristics of different genotypes were analyzed. The correlation between genetic polymorphisms and blood lipid levels at admission was investigated and the correlation between genotypes and blood lipid levels was analyzed by following blood lipid levels in January and June. RESULTS The distribution of SLCO1B1 1a/1a genotype was statistically significant between males and females and the distribution of *1a and *1b alleles was statistically significant between males and females. Correlation analysis between genotypes and lipid levels found statistical differences in E2/E3, E2/E3, E3/E3, E3/E4 high-density lipoprotein (HDL) levels and in E3/E4 and E2/E2 low-density lipoprotein levels (LDL). High-density lipoprotein (HDL) levels were significantly different between ε2 carrier and E3/E3. Lipid level analysis in normal and abnormal ApoE genotype carriers found that E2/E2+E2/E3 were significantly different in triglyceride (TG) and E3/E3 and E3/E4+E4/E4 were significantly different in cholesterol (TC), triglyceride (TG) and low-density lipoprotein (LDL). Analysis of blood lipid levels in SLCO1B1 genotype carriers with normal and abnormal levels revealed that 1a/1a+1a/1b+1b/1b and 1a/15+1b/15+15/15 were significantly different in cholesterol (TC), triglyceride (TG) and low-density lipoprotein (LDL), respectively. Linear regression analysis in Apoe genotype revealed that E4/E4 was negatively correlated with E3/E3 and E2/E2 was positively correlated with E3/E3 in LDL. E4/E4 was positively correlated with E3/E3 in TG and E4/E4 was positively correlated with E3/E3 in LDL. CONCLUSION The distribution of SLCO1B1 genotype was related to gender, ε4 allele carriers had higher blood lipids and *15 allele had better lipid-lowering effects.