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目的探讨葡萄糖激酶调节蛋白(GCKR)基因rs3817588和rs780094位点单核苷酸多态性(SN P)与非酒精性脂肪肝(NAFLD)发病易感性的关系。方法根据B超结果,筛选纳入NAFLD组132例和对照组252例,采集其病史,采集血液样本,分析血糖、血脂等血生化指标,全血中提取DNA,采用聚合酶链反应(PCR)、MassARRAY时间飞行质谱技术分析GCKR rs3817588、rs780094位点基因型。结果NAFLD组与正常对照组GCKR rs3817588基因型频率分布无显著差异(P>0.05),但其等位基因频率分布存在统计学意义(P<0.05),等位基因C使发生NAFLD的风险度下降29.7%(OR=0.703,95%CI:0.500~0.981),而且,等位基因C携带者尿酸水平明显降低。GCKR rs780094位点的基因型频率和等位基因频率分布在NAFLD组与正常对照组间无差异(P>0.05),各基因型间生化指标和一般指标的变化无统计差异,经校正年龄、性别后,NAFLD的风险度无明显变化。结论GCKR rs3817588 C等位基因与低血尿酸有关,并且降低NAFLD的发病风险,但GCKRrs780094位点基因多态性与NAFLD的发生无明显相关性。
Objective To investigate the relationship between single nucleotide polymorphisms (SNP) of rs3817588 and rs780094 of glucokinase regulatory (GCKR) gene and susceptibility to nonalcoholic fatty liver disease (NAFLD). Methods Based on the results of B-ultrasound, 132 patients with NAFLD and 252 controls were enrolled in the study. Blood samples were taken for analysis of blood biochemical markers such as blood glucose and blood lipids. DNA was extracted from whole blood and analyzed by polymerase chain reaction (PCR) MassARRAY time-of-flight mass spectrometry was used to analyze GCKR rs3817588 and rs780094 locus genotypes. Results There was no significant difference in genotype frequency of GCKR rs3817588 between NAFLD group and normal control group (P> 0.05), but allele frequency distribution had statistical significance (P <0.05) and allele C decreased the risk of NAFLD 29.7% (OR = 0.703, 95% CI: 0.500-0.981). Moreover, the levels of uric acid in allele C carriers were significantly lower. GCKR rs780094 locus genotype frequency and allele frequency distribution NAFLD group and the normal control group no difference (P> 0.05), the genotypes of biochemical indicators and general indicators of the change was no statistical difference, the corrected age, gender After the risk of NAFLD no significant change. Conclusion GCKR rs3817588 C allele is associated with hypouria and reduces the risk of NAFLD. However, there is no significant correlation between GCKR rs781 0948 polymorphism and NAFLD.