ABCG2基因多态性与包头地区人群痛风和高尿酸血症的相关性

Association of ABCG2 gene polymorphism with gout and hyperuricemia in Baotou population

目的探讨包头地区三磷酸腺苷结合转运蛋白G2(ABCG2)基因多态性与痛风及高尿酸血症的相关性,为疾病诊断和治疗提供参考。方法选择2020年9月12日—2021年1月8日包头医学院第一附属医院收治的160例高尿酸血症患者和152例痛风患者作为研究对象,分别纳入高尿酸血症组和痛风组,另外选择120名健康体检者作为对照组。采集各组受检者静脉血标样本,使用全自动生化分析仪,以尿酸酶-过氧化物酶比色法检测尿酸(UA),氧化酶法测定三酰甘油(TG)、总胆固醇(TC)、血尿素氮(BUN)、血肌酐(SCr),化学修饰酶法测定高密度脂蛋白胆固醇(HDL-C);采用聚合酶链反应(PCR)进行基因检测。比较各组上述血液生化指标水平的差异,以及ABCG2基因序列中各等位基因的基因型差异。结果痛风组和高尿酸血症组的TG、TC、UA、SCr水平均明显高于对照组〔TG(mmol/L):1.86±0.72、2.18±1.50比0.98±0.42,TC(mmol/L):5.65±1.42、4.84±1.28比3.58±1.18,UA(mmol/L):529.38±142.22、526.33±94.72比358.23±45.83,SCr(mmol/L):80.21±11.51、91.58±61.70比73.68±7.65,均P<0.05〕。比较各组基因型分布,结果显示对照组ABCG2点位的AA、AC、CC基因型分布频率分别为6.7%、20.0%、73.3%,高尿酸血症组ABCG2点位AA、AC、CC基因型分布频率分别为20.0%、32.5%、47.5%,痛风组AA、AC、CC基因型分布频率分别为34.2%、52.6%、13.2%,差异均有统计学意义(均P<0.05)。结论ABCG2基因与痛风和高尿酸血症的发生有关,且在两种疾病患者中基因分布有差异。

Objective To explore the relationship between gene polymorphism of adenosine triphosphate binding transporter G2(ABCG2)and gout and hyperuricemia in Baotou area,and provide reference for disease diagnosis and treatment.Methods The 160 hyperuricemia patients and 152 gout patients admitted to the First Affiliated Hospital of Baotou Medical College during September 12,2020 to January 8,2021 were included in hyperuricemia group and gout group.Other 120 healthy subjects were selected as control group.The venous blood standard samples were collected,automatic biochemical analyzer was used to detect uric acid(UA)with uricase peroxidase colorimetry,triacylglycerol(TG),total cholesterol(TC),blood urea nitrogen(BUN)and serum creatinine(SCr)with oxidase method,high-density lipoprotein cholesterol(HDL-C)with chemical finishing enzyme method,and polymerase chain reaction(PCR)was used for gene detection.The difference of above indexes and genotype of each allele in ABCG2 gene among each group were compared.Results The levels of TG,TC,UA and SCr in gout group and hyperuricemia group were higher than those in control group[TG(mmol/L):1.86±0.72,2.18±1.50 vs.0.98±0.42,TC(mmol/L):5.65±1.42,4.84±1.28 vs.3.58±1.18,UA(mmol/L):529.38±142.22,526.33±94.72 vs.358.23±45.83,SCr(mmol/L):80.21±11.51,91.58±61.70 vs.73.68±7.65,all P<0.05].The distribution frequencies of AA,AC,CC genotype at ABCG2 site in control group were 6.7%,20.0%,73.0%,the distribution frequencies of AA,AC,CC genotype at ABCG2 site in hyperuricemia group were 20.0%,32.5%,47.5%,the distribution frequencies of AA,AC,CC genotype in gout group were 34.2%,52.6%,13.2%,with statistical significance(all P<0.05).Conclusion ABCG2 gene was associated with gout and hyperuricemia,and the distribution is different in the patients with two diseases.