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李美勇,王倩,齐晓明,尤崇革.APOB、APOC-Ⅰ和LDLR基因多态性与血脂水平的关联性分析[J].陆军军医大学学报(原第三军医大学学报),2016,38(17):1948-1953.
Li Meiyong,Wang Qian,Qi Xiaoming,You Chongge.Association analysis of genetic polymorphisms of APOB, APOC-Ⅰ, LDLR genes with blood lipid levels[J].J Amry Med Univ (J Third Mil Med Univ),2016,38(17):1948-1953.
李美勇,王倩,齐晓明,尤崇革.APOB、APOC-Ⅰ和LDLR基因多态性与血脂水平的关联性分析[J].陆军军医大学学报(原第三军医大学学报),2016,38(17):1948-1953. DOI:
Li Meiyong,Wang Qian,Qi Xiaoming,You Chongge.Association analysis of genetic polymorphisms of APOB, APOC-Ⅰ, LDLR genes with blood lipid levels[J].J Amry Med Univ (J Third Mil Med Univ),2016,38(17):1948-1953. DOI:
目的 探讨LDLR基因rs688 CT、APOB基因rs693 CT、APOC-Ⅰ基因rs4420638 AG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 CT、APOB基因rs693 CT、APOC-Ⅰ基因rs4420638 AG 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rs688 CT、APOB基因rs693 CT、APOC-Ⅰ基因rs4420638 AG基因型频率和等位基因频率分别为CC 64.9%、CT 32.5%、TT 2.6%,C 81.2%、T 18.8%;CC 87.0%、CT 13.0%,C 93.5%、T 6.5%;AA 85.7%、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 CT、rs693 CT、rs4420638 AG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,P0.01;β=0.335,P0.01);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 CT、APOB基因rs693 CT、APOC-Ⅰ基因rs4420638 AG位点与中国兰州地区汉族人群血脂水平相关。
Objective To investigate the distributional characteristics of single nucleotide polymorphisms (SNPs) of apolipoproteins B (APOB) (rs693 CT)
low-density lipid receptor (LDLR) (rs688 CT)
and apolipoproteins C-Ⅰ (APOC-Ⅰ) (rs4420638 AG)
and explore their relationship with the blood lipid levels. Methods The gene polymorphisms of the 3 SNPs (rs693
rs688
rs4420638) were determined by polymerase chain reaction-high resolution melting (PCRHRM) in 462 subjects of Han nationality living in Lanzhou region. The relationship of the 3 SNPs with the blood lipid levels was analyzed. Results The genotype and allele frequencies of rs688
rs693 and rs4420638 were CC 64.9%
CT 32.5%
TT 2.6%
C 81.2% and T 18.8%; CC 87.0%
CT 13.0%
C 93.5% and T 6.5%; AA 85.7%
AG 14.3%
A 92.9%
and G 7.1%. Under dominant model
the multiple linear regression analyses were carried out by putting total cholesterol (TC)
triglyceride (TG)
low-density lipid-cholesterol (LDL-C) and high-density lipid-cholesterol (HDL-C) as the dependent variable
and gender
age
body mass index (BMI)
rs688 CT
rs693 CT
and rs4420638 AG as independent variables. The results showed that serum levels of TC and LDL-C of rs688 T allele carriers were significantly higher than homozygous type (β=0.301
P0.01; β=0.335
P0.01). The serum levels of TC and TG of rs693 T allele carriers were significantly lower than homozygous type (β=-0.250
P=0.027; β=-0.162
P=0.029). The TG levels of rs4420638 T allele carriers were significantly higher than homozygous type (β=0.180
P=0.016). Conclusion SNPs of rs688
rs693 and rs4420638 are significantly associated with blood lipid levels in Chinese Han population.
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