移居高原(4520m)汉族青年男性高尿酸血症发病特点及遗传易感性研究

Hyperuricemia prevalence and genetic susceptibility of young Han males at an altitude of 4520m

目的探讨移居高原汉族青年男性高尿酸血症（HUA）的发病特点及其与黄嘌呤氧化酶（XO）基因单核苷酸多态性的相关性。方法选取移居海拔4520m高原的汉族青年男性240名,年龄16~36岁（平均22.1岁）,高原居住时间0.25~10.8年（平均2.3年）。通过问卷及常规检查收集受试者的一般资料及生理指标;采集清晨空腹静脉血,测定血尿酸及XO浓度,并对XO基因的rs17038412多态性位点进行基因型及基因频率分析。结果 240名受试者中存在HUA者（HUA组）186人,占77.5%,血尿酸正常者（正常组）54人,占22.5%。与正常组比较,HUA组XO浓度明显升高,血氧饱和度明显降低,血红蛋白浓度明显增高（P〈0.01）,且血尿酸浓度与血红蛋白水平及XO浓度均呈正相关（P〈0.01,P〈0.001）。HUA组rs17038412位点AT基因型频率明显高于正常组（P〈0.01）。Logistic回归分析显示,AT基因型是移居高原汉族青年男性发生HUA的危险因素（OR=3.96,95%CI 1.42~11.08）。结论移居高原汉族青年男性HUA的发病率高,其血尿酸浓度与血红蛋白水平及XO浓度呈正相关。XO基因rs17038412多态性位点可能与移居高原汉族青年男性HUA的发病风险有关。

Objective To investigate the pathogenic characteristics of hy per uricemia and the correlation between hyperuricemia and the polymorphism of xanthine oxidase（XO） in young Han males at an altitude of 4520 m. Methods Two hundred and forty Han Chinese young men, aged 16-36 years（mean 22.1 years）, moved to an altitude of 4520 m for 0.25-10.8 years（mean 2.3 years）, were selected. The general information and physiological index were collected by using questionnaires and routine examination; Fasting venous blood was collected in the morning, serum uric acid and XO concentration were measured, and the rs17038412 polymorphism of XO gene was analyzed. Results There were 186 hyperuricemia patients（hyperuricemia group） in 240 subjects, accounting for 77.5%, and 54 people with normal serum uric acid（normal group, accounting for 22.5%）. Compared with normal group, the concentrations of XO and hemoglobin were significantly higher, the blood oxygen saturation significantly lower（P〈0.01）, and blood uric acid concentration was positively correlated to both hemoglobin level and XO concentration in hyperuricemia group（P〈0.01, P〈0.001）. The frequency of AT genotype was significantly higher in hyperuricemia group than in normal group（P〈0.01）. Logistic regression analysis showed that the AT genotype was a risk factor for hyperuricemia in the young Han men（OR=3.96, 95%CI 1.42-11.08）. Conclusions Incidence rate of hyperuricemia is high in young Han men. Serum uric acid concentration is positively correlated with the concentrations of XO and hemoglobin. AT genotype at a polymorphic site rs17038412 in XO may be related to the risk of hyperuricemia in the young Han men.