GCKR rs3817588、rs780094位点单核苷酸多态性与非酒精性脂肪肝的相关性研究  

THE CORRELATION BETWEEN THE SNP OF GCKR rs3817588,rs780094 AND SUSCEPTIBILITY OF NONALCOHOLIC FATTY LIVER DISEASE

作　　者：宋晓超[1] 宋春丽[1] 范丽[1] 马庆华 毛建良 李新莉[1] 

机构地区：[1]苏州大学公共卫生学院营养与食品卫生教研室,苏州215123 [2]苏州市相城区第三人民医院,苏州215134

出　　处：《营养学报》2016年第6期550-555,共6页Acta Nutrimenta Sinica

基　　金：国家自然科学基金面上项目(No.81372980)

摘　　要：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（SNP）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GCKRrs3817588、rs780094位点基因型。结果NAFLD组与正常对照组GCKRrs3817588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。GCKRrs780094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GCKRrs3817588C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。[营养学报，2016，38（6）：550—555]Objective To explore the correlation between the single nucleotide polymorphisms （SNP） of glucokinase regulatory protein （GCKR） gene at rs3817588 and rs780094 sites and susceptibility of nonalcoholic fatty liver disease （NAFLD）. Methods One hundred and thirty two NAFLD patients and 252 healthy controls were enrolled in our present study based on the ultrasound diagnosis and physical examination. Venous blood samples were obtained in the morning after an overnight fast, and used to analyze the biochemical indexes, including the activity of hepatic enzymes, uric acid, blood lipids and glucose levels. The DNA was extracted from whole blood, and polymerase chain reaction （PCR） and MassARRAY were used to assess the genotypes of GCKR gene at rs3817588 and rs780094 sites. Results There were no significant differences in the frequencies of GCKR rs3817588 genotype within two groups （P〉0.05）, but the allele frequency （T： 59.8% vs 53.6%, C： 40.2% vs 46.4%） had statistical significance （P〈0.05）. Carriers with C allele mutation had lower uric acid level. Compared with the most common T allele, C allele mutation decreased 29.7% risk of NAFLD, with OR= 0.703 （95% CI 0.50-0.98）. GCKR rs780094 genotypes and allele frequency had no significant difference between the NAFLD cases and the controls （P〉 0.05）.There was no significant interaction between the genotype of those two alleles and clinical or biochemical parameters. The adjusted odds ratios including age, genders and risk of NAFLD had no significant changes. Conclusion GCKRrs780094 polymorphism was not associated with NAFLD susceptibility in Hun Chinese, but GCKR rs3817588 C alleles was associated with low serum uric acid level and decreased risk ofNAFLD. [ACTA NUTRIMENTA SINICA, 2016, 38（6）： 550-555]

关 键 词：非酒精性脂肪肝 危险因素 葡萄糖激酶调节蛋白基因 单核苷酸多态性 

分 类 号：R575.5[医药卫生—消化系统]