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目的探讨LDLR基因rs688 C>T、APOB基因rs693 C>T、APOC-Ⅰ基因rs4420638 A>G位点分布特征及其与血脂水平的相关性。方法以462例兰州地区汉族人群为研究对象,采用聚合酶链式反应-高分辨率熔解(PCR-HRM)技术对LDLR基因rs688 C>T、APOB基因rs693 C>T、APOC-Ⅰ基因rs4420638 A>G 3个SNP位点进行基因分型,分析其与血脂水平的关系。结果 LDLR基因rs688C>T、APOB基因rs693 C>T、APOC-Ⅰ基因rs4420638 A>G基因型频率和等位基因频率分别为CC64.9%、CT 32.5%、TT 2.6%,C 81.2%、T 18.8%;CC 87.0%、CT 13.0%,C 93.5%、T 6.5%;AA85.7%、AG 14.3%,A 92.9%、G 7.1%。在显性模型下,分别以TC、TG、LDL-C、HDL-C为因变量,以性别、年龄、BMI、rs688 C>T、rs693 C>T、rs4420638 A>G为自变量进行多元线性回归分析发现,LDLR基因rs688 T等位基因携带者的TC、LDL-C水平显著高于CC纯合型(β=0.301,P<0.01;β=0.335,P<0.01);APOB基因rs693 T等位基因携带者的TC、TG水平显著低于CC纯合型(β=-0.250,P=0.027;β=-0.162,P=0.029);APOC-Ⅰ基因rs4420638 G等位基因携带者的TG水平显著高于AA纯合型(β=0.180,P=0.016)。结论 LDLR基因rs688 C>T、APOB基因rs693 C>T、APOC-Ⅰ基因rs4420638A>G位点与中国兰州地区汉族人群血脂水平相关。
OBJECTIVE: To investigate the distribution of LDHR rs688 C> T, APOB rs693 C> T and APOC-Ⅰ rs4420638 A> G and its relationship with serum lipids. Methods A total of 462 Chinese Han population in Lanzhou were enrolled in this study. The genotypes of rs688 C> T, rs693 C> T, rs4420638 A of APOC-Ⅰ gene and LDHR gene were analyzed by polymerase chain reaction-high resolution melting (PCR-HRM) > G three SNP loci genotypes, analysis of its relationship with blood lipid levels. Results The rs688C> T of LDLR gene, rs693c> T of APOB gene and rs4420638 A> G of APOC-Ⅰ gene were 64.6%, 32.6% CC 87.0%, CT 13.0%, C 93.5%, T 6.5%; AA 85.7%, AG 14.3%, A 92.9%, G 7.1%. Under the dominant model, the factors of gender, age, BMI, rs688 C> T, rs693 C> T, rs4420638 A> G were used as independent variables to make multivariate linear regression analysis with TC, TG, LDL-C and HDL- Regression analysis showed that TC and LDL-C levels of rs688 T allele of LDLR gene were significantly higher than those of CC homozygote (β = 0.301, P <0.01; β = 0.335, P <0.01); APOB gene rs693 T The levels of TC and TG in carriers of the allele were significantly lower than those in the CC homozygote (β = -0.250, P = 0.027; β = -0.162, P = 0.029). The TG level of the rs4420638 G allele in the APOC-Ⅰ gene Significantly higher than AA homozygotes (β = 0.180, P = 0.016). Conclusion The rs688 C> T of LDLR, rs693 C> T of APOB and rs4420638A> G of APOC-Ⅰ are associated with the level of plasma lipids in Lanzhou Han population.