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低密度脂蛋白受体单核苷酸多态性与非酒精性脂肪性肝病的相关性
Association between single nucleotide polymorphism of low-density lipoprotein receptor and nonalcoholic fatty liver disease
文章发布日期:2018年08月06日  来源:  作者:岳海燕,刘守胜,王聪,等  点击次数:442次  下载次数:52次

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【摘要】:目的探讨在中国汉族人群中,低密度脂蛋白受体(LDL-R)的基因多态性与非酒精性脂肪性肝病(NAFLD)的相关性,并评估该基因多态性对血脂水平的影响。方法纳入2015年10月-2017年7月于青岛市市立医院就诊的216例NAFLD患者和135例健康对照组,利用PCR及基因质谱测序检测方法对LDL-R rs1433099和rs2738464位点进行基因型检测。同时利用生物化学方法检测上述受试者血脂水平及肝脏酶谱的变化。通过Hardy-Weinberg(H-W)平衡检验样本的群体代表性,用χ2检验分析基因型的分布是否符合H-W平衡。基因型及等位基因频率采用直接计数法;计数资料组间比较采用χ2检验或Fisher精确检验分析;计量资料组间比较采用t检验和Wilcoxon秩和检验;rs1433099和rs2738464多态性与NAFLD发生的相对风险度以比值比(OR)及其95%可信区间(95%CI)表示,采用二元logistic回归分析模型计算。结果LDL-R基因rs1433099和rs2738464位点的等位基因频率及基因型分布频率在NAFLD组和健康对照组中差异均无统计学意义(P值均> 0.05);同时,2组间血脂水平、肝脏酶学、BMI差异均无统计学意义(P值均> 0.05)。在NAFLD组、健康对照组及全部纳入者的各组内,rs1433099 T和rs2738464 G的携带者与非携带者之间的一般临床特征,包括血脂水平、BMI、血压情况及肝脏酶谱之间比较,差异均无统计学意义(P值均>005)。结论LDL-R基因的rs1433099和rs2738464位点多态性不影响血脂水平。同时,首次证明了位于LDL-R基因上的rs1433099和rs2738464位点的基因多态性在中国汉族人群中与NAFLD发病风险不相关。
【Abstract】:ObjectiveTo investigate the association between gene polymorphisms of low-density lipoprotein receptor (LDL-R) and nonalcoholic fatty liver disease (NAFLD) and the effect of LDL-R gene polymorphisms on serum lipid levels in the Chinese Han population. MethodsA total of 216 NAFLD patients who visited Qingdao Municipal Hospital from October 2015 to July 2017 and 135 healthy subjects were enrolled. PCR and mass spectrometry were used to determine the genotypes of the rs1433099 and rs2738464 loci of LDL-R. The biochemical methods were used to measure the changes in blood lipid levels and liver enzymes. The Hardy-Weinberg (H-W) equilibrium was used to test the group representativeness of samples, and the chi-square test was used to test whether the distribution of genotypes was in accordance with the H-W equilibrium. The direct counting method was used to determine genotype and allele frequencies; the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups; the t-test and wilcoxon rank sum test were used for comparison of continuous data between groups; the association of rs1433099 and rs2738464 polymorphisms with the relative risk of NAFLD was expressed as odds ratio (OR) and its 95% confidence interval (CI), and the binary logistic regression model was used for calculation. ResultsThere was no significant difference between the NAFLD group and the healthy control group in allele and genotype frequencies of LDL-R rs1433099 and rs2738464 (all P>0.05). There were also no significant differences between the two groups in blood lipid levels, liver enzymes, and body mass index (BMI) (all P>0.05). In the NAFLD group, the healthy control group, and all subjects, there were no significant differences in general clinical features, including blood lipid levels, BMI, blood pressure, and liver enzymes, between the subjects carrying rs1433099 T and rs2738464 G and those who did not carry such alleles (all P>0.05). ConclusionThe polymorphisms of LDL-R rs1433099 and rs2738464 do not affect blood lipid levels. This study demonstrates for the first time that the polymorphisms of LDL-R rs1433099 and rs2738464 are not associated with the risk of NAFLD in the Chinese Han population.
【关键字】:非酒精性脂肪性肝病; 受体, LDL; 多态性, 单核苷酸
【Key words】:non-alcoholic fatty liver disease; polymorphism, single nucleotide; receptors, LDL
【引证本文】:YUE HY, LIU SS, WANG C, et al. Association between single nucleotide polymorphism of low-density lipoprotein receptor and nonalcoholic fatty liver disease[J]. J Clin Hepatol, 2018, 34(9): 1929-1935. (in Chinese)
岳海燕, 刘守胜, 王聪, 等. 低密度脂蛋白受体单核苷酸多态性与非酒精性脂肪性肝病的相关性[J]. 临床肝胆病杂志, 2018, 34(9): 1929-1935.

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